Product Details

SNP ID

rs1133893

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8422000 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCGGCTCCTCTCCACCGTCATCCGT[A/G]CCTTGGACACACCGAGGTGAGTGGT

Phenotype

MIM: 613332

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MARCH2 PubMed Links

Gene Details

Gene

MARCH2

Gene Name

membrane associated ring-CH-type finger 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005415.1	330	Missense Mutation	ACC,GCC	T54A	NP_001005415.1
NM_001005416.1	330	Missense Mutation	ACC,GCC	T54A	NP_001005416.1
NM_016496.4	330	Missense Mutation	ACC,GCC	T54A	NP_057580.3
XM_006722763.3	330	Missense Mutation	ACC,GCC	T54A	XP_006722826.1
XM_011528046.2	330	Missense Mutation	ACC,GCC	T54A	XP_011526348.1
XM_011528047.2	330	Missense Mutation	ACC,GCC	T54A	XP_011526349.1
XM_017026853.1	330	Missense Mutation	ACC,GCC	T54A	XP_016882342.1
XM_017026854.1	330	Silent Mutation	GTA,GTG	V10V	XP_016882343.1

View Full Product Details