Product Details

SNP ID

rs201879579

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:20311269 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACAGTCAGGAGGACCATAGGCCAG[A/G]CCACCAGGAACCCTGAAATACAAGA

Phenotype

MIM: 602977

Polymorphism

A/G, Transition 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	1502	Missense Mutation	GCC,GTC	A523V	NP_001007241.2
NM_001007241.2	1502	Missense Mutation	GCC,GTC	A376V	NP_001007242.2
NM_001007242.2	1502	Missense Mutation	GCC,GTC	A373V	NP_001007243.2
NM_001502.3	1502	Missense Mutation	GCC,GTC	A520V	NP_001493.2
XM_017023155.1	1502	Missense Mutation	GCC,GTC	A501V	XP_016878644.1

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