Product Details

SNP ID

rs202049484

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44397745 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAGGGCCCAGGATGGATGGCTGA[A/G]GCGGGAATGATGTGGATGGGATGGC

Phenotype

MIM: 614396 MIM: 607759

Polymorphism

A/G, 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	4431	Silent Mutation	GCC,GCT	A1444A	NP_001002909.1
NM_001304939.1	4431	Silent Mutation	GCC,GCT	A1419A	NP_001291868.1
NM_001304940.1	4431	Silent Mutation	GCC,GCT	A1366A	NP_001291869.1
NM_001304941.1	4431	Silent Mutation	GCC,GCT	A1366A	NP_001291870.1
NM_001304942.1	4431	Silent Mutation	GCC,GCT	A1366A	NP_001291871.1
NM_001304943.1	4431	Silent Mutation	GCC,GCT	A1366A	NP_001291872.1
XM_011524557.1	4431	Silent Mutation	GCC,GCT	A1473A	XP_011522859.1
XM_011524558.1	4431	Silent Mutation	GCC,GCT	A1395A	XP_011522860.1
XM_011524559.2	4431	Silent Mutation	GCC,GCT	A1395A	XP_011522861.1
XM_011524561.2	4431	Silent Mutation	GCC,GCT	A1395A	XP_011522863.1
XM_017024372.1	4431	Silent Mutation	GCC,GCT	A1395A	XP_016879861.1
XM_017024373.1	4431	Silent Mutation	GCC,GCT	A1395A	XP_016879862.1
XM_017024374.1	4431	Silent Mutation	GCC,GCT	A1395A	XP_016879863.1
XM_017024375.1	4431	Silent Mutation	GCC,GCT	A1366A	XP_016879864.1
XM_017024376.1	4431	Silent Mutation	GCC,GCT	A1366A	XP_016879865.1
XM_017024377.1	4431	Silent Mutation	GCC,GCT	A1366A	XP_016879866.1
XM_017024378.1	4431	Silent Mutation	GCC,GCT	A1366A	XP_016879867.1
XM_017024379.1	4431	Silent Mutation	GCC,GCT	A1366A	XP_016879868.1
XM_017024380.1	4431	Silent Mutation	GCC,GCT	A1230A	XP_016879869.1

Gene

ITGA2B

Gene Name

integrin subunit alpha 2b

There are no transcripts associated with this gene.

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