Product Details
- SNP ID
-
rs144514951
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:44397960 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGTAGGATGGCATGCTGAACAGTTG[C/T]GATGGAGGTGGCAGAGGCTGTAGCT
- Phenotype
-
MIM: 614396
MIM: 607759
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GPATCH8
PubMed Links
Gene Details
- Gene
- GPATCH8
- Gene Name
- G-patch domain containing 8
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001002909.3 |
4216 |
Missense Mutation |
ACA,GCA |
T1373A |
NP_001002909.1 |
NM_001304939.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1348A |
NP_001291868.1 |
NM_001304940.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1295A |
NP_001291869.1 |
NM_001304941.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1295A |
NP_001291870.1 |
NM_001304942.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1295A |
NP_001291871.1 |
NM_001304943.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1295A |
NP_001291872.1 |
XM_011524557.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1402A |
XP_011522859.1 |
XM_011524558.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1324A |
XP_011522860.1 |
XM_011524559.2 |
4216 |
Missense Mutation |
ACA,GCA |
T1324A |
XP_011522861.1 |
XM_011524561.2 |
4216 |
Missense Mutation |
ACA,GCA |
T1324A |
XP_011522863.1 |
XM_017024372.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1324A |
XP_016879861.1 |
XM_017024373.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1324A |
XP_016879862.1 |
XM_017024374.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1324A |
XP_016879863.1 |
XM_017024375.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1295A |
XP_016879864.1 |
XM_017024376.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1295A |
XP_016879865.1 |
XM_017024377.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1295A |
XP_016879866.1 |
XM_017024378.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1295A |
XP_016879867.1 |
XM_017024379.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1295A |
XP_016879868.1 |
XM_017024380.1 |
4216 |
Missense Mutation |
ACA,GCA |
T1159A |
XP_016879869.1 |
- Gene
- ITGA2B
- Gene Name
- integrin subunit alpha 2b
There are no transcripts associated with this gene.
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