Product Details

SNP ID

rs150879214

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:2854993 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTCTGCGTGTTTTGCTTCACCAG[A/G]TGCTGTCCAATGTCGATGAGCTGTT

Phenotype

MIM: 300198

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GYG2 PubMed Links

Gene Details

Gene

GYG2

Gene Name

glycogenin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079855.1	700	Missense Mutation	ATG,GTG	M109V	NP_001073324.1
NM_001184702.1	700	Missense Mutation	ATG,GTG	M109V	NP_001171631.1
NM_001184703.1	700	Missense Mutation	ATG,GTG	M140V	NP_001171632.1
NM_001184704.1	700	UTR 5			NP_001171633.1
NM_003918.2	700	Missense Mutation	ATG,GTG	M140V	NP_003909.2
XM_011545600.2	700	Missense Mutation	ATG,GTG	M109V	XP_011543902.1
XM_017029927.1	700	Missense Mutation	ATG,GTG	M140V	XP_016885416.1
XM_017029928.1	700	Missense Mutation	ATG,GTG	M140V	XP_016885417.1
XM_017029929.1	700	Missense Mutation	ATG,GTG	M140V	XP_016885418.1
XM_017029930.1	700	Missense Mutation	ATG,GTG	M109V	XP_016885419.1
XM_017029931.1	700	Missense Mutation	ATG,GTG	M109V	XP_016885420.1

View Full Product Details