Product Details

SNP ID

rs76993218

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:20311280 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACCATAGGCCAGGCCACCAGGAA[A/C]CCTGAAATACAAGAAATATGACTGT

Phenotype

MIM: 602977

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GP2 PubMed Links

Gene Details

Gene

GP2

Gene Name

glycoprotein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007240.2	1491	Silent Mutation	GGG,GGT	G519G	NP_001007241.2
NM_001007241.2	1491	Silent Mutation	GGG,GGT	G372G	NP_001007242.2
NM_001007242.2	1491	Silent Mutation	GGG,GGT	G369G	NP_001007243.2
NM_001502.3	1491	Silent Mutation	GGG,GGT	G516G	NP_001493.2
XM_017023155.1	1491	Silent Mutation	GGG,GGT	G497G	XP_016878644.1

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