Product Details

SNP ID

rs1049820

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:175635018 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTCTGCATCCGGCAGGCGTCTTTCA[A/C]ATAGGCCCAGTTGGCAGACAGAACC

Phenotype

MIM: 601275

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GPM6A PubMed Links

Gene Details

Gene

GPM6A

Gene Name

glycoprotein M6A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261447.1	1129	Missense Mutation	GTG,TTG	V207L	NP_001248376.1
NM_001261448.1	1129	Missense Mutation	GTG,TTG	V235L	NP_001248377.1
NM_005277.4	1129	Missense Mutation	GTG,TTG	V242L	NP_005268.1
NM_201591.2	1129	Missense Mutation	GTG,TTG	V242L	NP_963885.1
NM_201592.2	1129	Missense Mutation	GTG,TTG	V231L	NP_963886.1
XM_006714183.1	1129	Missense Mutation	GTG,TTG	V179L	XP_006714246.1
XM_011531877.1	1129	Missense Mutation	GTG,TTG	V179L	XP_011530179.1
XM_017008036.1	1129	Missense Mutation	GTG,TTG	V179L	XP_016863525.1

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