Incidental Mutation 'R7173:Rpgrip1'
ID |
558450 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1
|
Ensembl Gene |
ENSMUSG00000057132 |
Gene Name |
retinitis pigmentosa GTPase regulator interacting protein 1 |
Synonyms |
A930002K18Rik, 4930505G06Rik, nmf247, 4930401L23Rik |
MMRRC Submission |
045265-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R7173 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
52348161-52401003 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 52349633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 7
(Y7C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111600]
[ENSMUST00000111603]
[ENSMUST00000180646]
[ENSMUST00000181401]
|
AlphaFold |
Q9EPQ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111600
AA Change: Y7C
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000107227 Gene: ENSMUSG00000057132 AA Change: Y7C
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
coiled coil region
|
499 |
542 |
N/A |
INTRINSIC |
C2
|
602 |
707 |
1.08e-2 |
SMART |
coiled coil region
|
746 |
795 |
N/A |
INTRINSIC |
Blast:C2
|
958 |
1086 |
1e-37 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111603
AA Change: Y7C
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107230 Gene: ENSMUSG00000057132 AA Change: Y7C
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
coiled coil region
|
499 |
543 |
N/A |
INTRINSIC |
Pfam:C2-C2_1
|
582 |
721 |
1.9e-49 |
PFAM |
C2
|
764 |
869 |
7.3e-5 |
SMART |
coiled coil region
|
910 |
999 |
N/A |
INTRINSIC |
Blast:C2
|
1162 |
1290 |
2e-37 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180646
AA Change: Y7C
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000137751 Gene: ENSMUSG00000057132 AA Change: Y7C
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
276 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181401
AA Change: Y7C
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000138027 Gene: ENSMUSG00000057132 AA Change: Y7C
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
coiled coil region
|
499 |
547 |
N/A |
INTRINSIC |
Pfam:DUF3250
|
605 |
710 |
2.8e-46 |
PFAM |
C2
|
753 |
858 |
1.08e-2 |
SMART |
coiled coil region
|
899 |
988 |
N/A |
INTRINSIC |
Blast:C2
|
1151 |
1279 |
1e-37 |
BLAST |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (79/79) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008] PHENOTYPE: Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
C |
T |
15: 84,833,848 (GRCm39) |
V403I |
possibly damaging |
Het |
Actn1 |
G |
A |
12: 80,224,033 (GRCm39) |
R475C |
possibly damaging |
Het |
Adam11 |
T |
C |
11: 102,662,757 (GRCm39) |
L191P |
possibly damaging |
Het |
Adam21 |
G |
T |
12: 81,606,008 (GRCm39) |
Q585K |
probably benign |
Het |
Akap3 |
T |
C |
6: 126,841,729 (GRCm39) |
V116A |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,478,024 (GRCm39) |
Y74* |
probably null |
Het |
Alx4 |
G |
T |
2: 93,473,202 (GRCm39) |
G67C |
possibly damaging |
Het |
Ankrd17 |
A |
T |
5: 90,407,976 (GRCm39) |
C1414S |
possibly damaging |
Het |
Ankrd44 |
T |
C |
1: 54,805,550 (GRCm39) |
D170G |
probably damaging |
Het |
Arpc2 |
T |
A |
1: 74,303,531 (GRCm39) |
M266K |
probably damaging |
Het |
Atp12a |
A |
T |
14: 56,621,837 (GRCm39) |
N794I |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,582,396 (GRCm39) |
L340P |
probably benign |
Het |
Ccer1 |
A |
T |
10: 97,529,217 (GRCm39) |
|
probably benign |
Het |
Cfap73 |
A |
T |
5: 120,772,279 (GRCm39) |
Y8N |
probably damaging |
Het |
Cfhr4 |
C |
A |
1: 139,659,415 (GRCm39) |
E705* |
probably null |
Het |
Cln3 |
T |
C |
7: 126,178,589 (GRCm39) |
T173A |
probably damaging |
Het |
Cxcl3 |
A |
T |
5: 90,934,008 (GRCm39) |
|
probably benign |
Het |
Cyp2c66 |
G |
C |
19: 39,159,401 (GRCm39) |
C284S |
probably benign |
Het |
Dnajc22 |
T |
C |
15: 98,999,187 (GRCm39) |
V124A |
probably benign |
Het |
Dync1h1 |
C |
G |
12: 110,568,173 (GRCm39) |
D45E |
probably benign |
Het |
Elmod3 |
A |
T |
6: 72,554,235 (GRCm39) |
|
probably null |
Het |
Enpp3 |
A |
C |
10: 24,649,945 (GRCm39) |
V827G |
probably damaging |
Het |
Esyt2 |
T |
C |
12: 116,327,154 (GRCm39) |
I574T |
probably benign |
Het |
Ext2 |
A |
T |
2: 93,643,957 (GRCm39) |
I108N |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,843,531 (GRCm39) |
I904M |
unknown |
Het |
Fmnl2 |
T |
C |
2: 53,004,202 (GRCm39) |
I638T |
unknown |
Het |
Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Het |
Fras1 |
G |
T |
5: 96,925,937 (GRCm39) |
A3714S |
probably damaging |
Het |
Fsd1 |
C |
A |
17: 56,303,696 (GRCm39) |
R479S |
possibly damaging |
Het |
Gaa |
C |
T |
11: 119,169,817 (GRCm39) |
L624F |
probably damaging |
Het |
Galnt2 |
G |
A |
8: 125,032,292 (GRCm39) |
V86I |
probably benign |
Het |
Gdap1l1 |
T |
G |
2: 163,280,608 (GRCm39) |
V48G |
probably damaging |
Het |
Gm10549 |
A |
G |
18: 33,597,462 (GRCm39) |
T83A |
unknown |
Het |
Gm11437 |
T |
G |
11: 84,055,374 (GRCm39) |
T81P |
probably benign |
Het |
Gm16253 |
T |
C |
3: 96,487,979 (GRCm39) |
|
probably null |
Het |
Gprc6a |
A |
T |
10: 51,504,595 (GRCm39) |
M83K |
probably benign |
Het |
Grik5 |
T |
C |
7: 24,767,587 (GRCm39) |
D31G |
probably damaging |
Het |
Hcrtr2 |
A |
G |
9: 76,167,013 (GRCm39) |
L108P |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,853,575 (GRCm39) |
L3689Q |
probably damaging |
Het |
Igf2bp1 |
T |
C |
11: 95,859,290 (GRCm39) |
M407V |
probably benign |
Het |
Irgq |
A |
T |
7: 24,233,185 (GRCm39) |
E342V |
probably damaging |
Het |
Itih2 |
A |
T |
2: 10,109,974 (GRCm39) |
I593N |
probably damaging |
Het |
Ivd |
G |
T |
2: 118,701,870 (GRCm39) |
G101C |
probably damaging |
Het |
Jakmip1 |
G |
A |
5: 37,248,708 (GRCm39) |
G123S |
probably damaging |
Het |
Kif14 |
T |
A |
1: 136,406,908 (GRCm39) |
I580N |
probably damaging |
Het |
Kmt2e |
A |
T |
5: 23,669,855 (GRCm39) |
Y114F |
probably damaging |
Het |
Ly6g5b |
C |
A |
17: 35,333,680 (GRCm39) |
C99F |
probably damaging |
Het |
Map3k20 |
C |
T |
2: 72,271,758 (GRCm39) |
P629S |
probably benign |
Het |
Mpl |
A |
G |
4: 118,305,741 (GRCm39) |
|
probably null |
Het |
Muc4 |
T |
C |
16: 32,582,862 (GRCm39) |
F476L |
probably damaging |
Het |
Mup18 |
T |
C |
4: 61,590,199 (GRCm39) |
T110A |
probably benign |
Het |
Nlrp9a |
A |
G |
7: 26,257,603 (GRCm39) |
D407G |
probably benign |
Het |
Nmur1 |
G |
A |
1: 86,314,190 (GRCm39) |
R359C |
probably benign |
Het |
Or5ac24 |
T |
C |
16: 59,165,510 (GRCm39) |
T185A |
probably benign |
Het |
Or5p64 |
C |
T |
7: 107,854,955 (GRCm39) |
C130Y |
possibly damaging |
Het |
Panx3 |
A |
T |
9: 37,572,596 (GRCm39) |
M318K |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 81,999,777 (GRCm39) |
|
probably null |
Het |
Pcsk5 |
T |
C |
19: 17,455,241 (GRCm39) |
Y1063C |
possibly damaging |
Het |
Psme3ip1 |
A |
T |
8: 95,315,486 (GRCm39) |
F15L |
probably damaging |
Het |
Rere |
G |
A |
4: 150,553,195 (GRCm39) |
R129H |
probably damaging |
Het |
Serpina6 |
T |
C |
12: 103,613,253 (GRCm39) |
N349S |
possibly damaging |
Het |
Slc10a1 |
T |
G |
12: 81,002,750 (GRCm39) |
E296A |
probably damaging |
Het |
Slc2a9 |
A |
T |
5: 38,610,214 (GRCm39) |
|
probably null |
Het |
Sptan1 |
T |
A |
2: 29,873,221 (GRCm39) |
M138K |
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,924,233 (GRCm39) |
T175A |
probably benign |
Het |
Tbrg4 |
T |
C |
11: 6,570,810 (GRCm39) |
T221A |
possibly damaging |
Het |
Tenm2 |
T |
C |
11: 35,932,378 (GRCm39) |
T1739A |
probably damaging |
Het |
Tmed5 |
T |
C |
5: 108,280,187 (GRCm39) |
D35G |
probably benign |
Het |
Tnfsf15 |
A |
T |
4: 63,647,889 (GRCm39) |
S250R |
probably damaging |
Het |
Tnpo2 |
G |
T |
8: 85,781,707 (GRCm39) |
V830F |
probably benign |
Het |
Ttbk2 |
G |
T |
2: 120,570,592 (GRCm39) |
S1187Y |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,625,029 (GRCm39) |
T15183M |
possibly damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,689,259 (GRCm39) |
|
probably null |
Het |
Vmn1r38 |
T |
C |
6: 66,753,278 (GRCm39) |
I279M |
possibly damaging |
Het |
Vmn1r49 |
A |
T |
6: 90,049,250 (GRCm39) |
Y251N |
possibly damaging |
Het |
Vmn1r66 |
C |
T |
7: 10,008,482 (GRCm39) |
V184I |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,038,255 (GRCm39) |
M610K |
probably benign |
Het |
Xrn2 |
C |
T |
2: 146,884,013 (GRCm39) |
P591S |
probably damaging |
Het |
|
Other mutations in Rpgrip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00333:Rpgrip1
|
APN |
14 |
52,387,895 (GRCm39) |
splice site |
probably null |
|
IGL01016:Rpgrip1
|
APN |
14 |
52,383,293 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01019:Rpgrip1
|
APN |
14 |
52,368,633 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01382:Rpgrip1
|
APN |
14 |
52,382,934 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01433:Rpgrip1
|
APN |
14 |
52,363,834 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01528:Rpgrip1
|
APN |
14 |
52,349,634 (GRCm39) |
nonsense |
probably null |
|
IGL01548:Rpgrip1
|
APN |
14 |
52,363,728 (GRCm39) |
splice site |
probably benign |
|
IGL01652:Rpgrip1
|
APN |
14 |
52,382,949 (GRCm39) |
unclassified |
probably benign |
|
IGL02040:Rpgrip1
|
APN |
14 |
52,358,476 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02113:Rpgrip1
|
APN |
14 |
52,371,301 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02121:Rpgrip1
|
APN |
14 |
52,384,831 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02185:Rpgrip1
|
APN |
14 |
52,349,685 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02234:Rpgrip1
|
APN |
14 |
52,368,766 (GRCm39) |
splice site |
probably benign |
|
IGL02322:Rpgrip1
|
APN |
14 |
52,387,499 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02379:Rpgrip1
|
APN |
14 |
52,376,345 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02524:Rpgrip1
|
APN |
14 |
52,358,511 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02836:Rpgrip1
|
APN |
14 |
52,382,714 (GRCm39) |
splice site |
probably null |
|
IGL03264:Rpgrip1
|
APN |
14 |
52,378,109 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03410:Rpgrip1
|
APN |
14 |
52,395,823 (GRCm39) |
unclassified |
probably benign |
|
FR4976:Rpgrip1
|
UTSW |
14 |
52,387,001 (GRCm39) |
utr 3 prime |
probably benign |
|
FR4976:Rpgrip1
|
UTSW |
14 |
52,386,851 (GRCm39) |
utr 3 prime |
probably benign |
|
R0045:Rpgrip1
|
UTSW |
14 |
52,378,601 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0045:Rpgrip1
|
UTSW |
14 |
52,378,601 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0089:Rpgrip1
|
UTSW |
14 |
52,386,841 (GRCm39) |
utr 3 prime |
probably benign |
|
R0498:Rpgrip1
|
UTSW |
14 |
52,368,771 (GRCm39) |
splice site |
probably benign |
|
R0602:Rpgrip1
|
UTSW |
14 |
52,371,313 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0776:Rpgrip1
|
UTSW |
14 |
52,378,626 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1139:Rpgrip1
|
UTSW |
14 |
52,384,678 (GRCm39) |
missense |
probably benign |
0.33 |
R1528:Rpgrip1
|
UTSW |
14 |
52,349,681 (GRCm39) |
missense |
probably benign |
0.01 |
R1715:Rpgrip1
|
UTSW |
14 |
52,378,148 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1934:Rpgrip1
|
UTSW |
14 |
52,352,101 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2087:Rpgrip1
|
UTSW |
14 |
52,374,079 (GRCm39) |
splice site |
probably null |
|
R2114:Rpgrip1
|
UTSW |
14 |
52,387,024 (GRCm39) |
missense |
probably benign |
0.27 |
R3406:Rpgrip1
|
UTSW |
14 |
52,382,666 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3835:Rpgrip1
|
UTSW |
14 |
52,384,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R4084:Rpgrip1
|
UTSW |
14 |
52,386,808 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4124:Rpgrip1
|
UTSW |
14 |
52,389,781 (GRCm39) |
splice site |
probably null |
|
R4381:Rpgrip1
|
UTSW |
14 |
52,387,906 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4407:Rpgrip1
|
UTSW |
14 |
52,384,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R4520:Rpgrip1
|
UTSW |
14 |
52,389,746 (GRCm39) |
missense |
probably benign |
0.08 |
R4904:Rpgrip1
|
UTSW |
14 |
52,397,586 (GRCm39) |
missense |
probably damaging |
0.97 |
R4904:Rpgrip1
|
UTSW |
14 |
52,358,544 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5284:Rpgrip1
|
UTSW |
14 |
52,386,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R5342:Rpgrip1
|
UTSW |
14 |
52,382,666 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5377:Rpgrip1
|
UTSW |
14 |
52,397,652 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5499:Rpgrip1
|
UTSW |
14 |
52,378,042 (GRCm39) |
missense |
probably benign |
0.00 |
R5729:Rpgrip1
|
UTSW |
14 |
52,397,617 (GRCm39) |
missense |
probably benign |
0.28 |
R5834:Rpgrip1
|
UTSW |
14 |
52,395,839 (GRCm39) |
missense |
probably damaging |
0.99 |
R6157:Rpgrip1
|
UTSW |
14 |
52,349,631 (GRCm39) |
missense |
probably benign |
0.00 |
R6455:Rpgrip1
|
UTSW |
14 |
52,378,646 (GRCm39) |
missense |
probably damaging |
0.97 |
R6796:Rpgrip1
|
UTSW |
14 |
52,387,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R7065:Rpgrip1
|
UTSW |
14 |
52,378,650 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7302:Rpgrip1
|
UTSW |
14 |
52,387,012 (GRCm39) |
missense |
unknown |
|
R7315:Rpgrip1
|
UTSW |
14 |
52,358,458 (GRCm39) |
missense |
not run |
|
R7320:Rpgrip1
|
UTSW |
14 |
52,368,673 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7344:Rpgrip1
|
UTSW |
14 |
52,378,116 (GRCm39) |
missense |
probably damaging |
0.98 |
R7459:Rpgrip1
|
UTSW |
14 |
52,378,016 (GRCm39) |
missense |
probably benign |
0.18 |
R7797:Rpgrip1
|
UTSW |
14 |
52,371,277 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7852:Rpgrip1
|
UTSW |
14 |
52,383,337 (GRCm39) |
missense |
probably benign |
0.01 |
R7916:Rpgrip1
|
UTSW |
14 |
52,368,641 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7990:Rpgrip1
|
UTSW |
14 |
52,366,975 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8041:Rpgrip1
|
UTSW |
14 |
52,356,702 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8344:Rpgrip1
|
UTSW |
14 |
52,387,819 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8403:Rpgrip1
|
UTSW |
14 |
52,389,658 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8559:Rpgrip1
|
UTSW |
14 |
52,386,714 (GRCm39) |
missense |
unknown |
|
R8679:Rpgrip1
|
UTSW |
14 |
52,396,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R8817:Rpgrip1
|
UTSW |
14 |
52,378,056 (GRCm39) |
missense |
probably benign |
0.33 |
R8890:Rpgrip1
|
UTSW |
14 |
52,382,501 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9197:Rpgrip1
|
UTSW |
14 |
52,382,857 (GRCm39) |
missense |
possibly damaging |
0.51 |
RF028:Rpgrip1
|
UTSW |
14 |
52,386,855 (GRCm39) |
nonsense |
probably null |
|
RF034:Rpgrip1
|
UTSW |
14 |
52,386,983 (GRCm39) |
utr 3 prime |
probably benign |
|
RF035:Rpgrip1
|
UTSW |
14 |
52,386,850 (GRCm39) |
utr 3 prime |
probably benign |
|
RF036:Rpgrip1
|
UTSW |
14 |
52,386,998 (GRCm39) |
frame shift |
probably null |
|
RF040:Rpgrip1
|
UTSW |
14 |
52,386,994 (GRCm39) |
frame shift |
probably null |
|
RF043:Rpgrip1
|
UTSW |
14 |
52,386,852 (GRCm39) |
utr 3 prime |
probably benign |
|
X0024:Rpgrip1
|
UTSW |
14 |
52,378,665 (GRCm39) |
missense |
possibly damaging |
0.85 |
X0026:Rpgrip1
|
UTSW |
14 |
52,384,678 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCTTCCATGTGTCTACAC -3'
(R):5'- TGTGACGCATCTGCACACTC -3'
Sequencing Primer
(F):5'- TGTGTCTACACCACCACAAATATAAG -3'
(R):5'- GACGCATCTGCACACTCATGTAC -3'
|
Posted On |
2019-06-26 |