Product Details

SNP ID

rs192438244

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:2854002 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGTCATCCTCTCGAAGGTGTTC[A/G]ATGAAGTCATTGAAGTGAATCTAAT

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	547	Missense Mutation	AAT,GAT	N58D	NP_001073324.1
NM_001184702.1	547	Missense Mutation	AAT,GAT	N58D	NP_001171631.1
NM_001184703.1	547	Missense Mutation	AAT,GAT	N89D	NP_001171632.1
NM_001184704.1	547	UTR 5			NP_001171633.1
NM_003918.2	547	Missense Mutation	AAT,GAT	N89D	NP_003909.2
XM_011545600.2	547	Missense Mutation	AAT,GAT	N58D	XP_011543902.1
XM_017029927.1	547	Missense Mutation	AAT,GAT	N89D	XP_016885416.1
XM_017029928.1	547	Missense Mutation	AAT,GAT	N89D	XP_016885417.1
XM_017029929.1	547	Missense Mutation	AAT,GAT	N89D	XP_016885418.1
XM_017029930.1	547	Missense Mutation	AAT,GAT	N58D	XP_016885419.1
XM_017029931.1	547	Missense Mutation	AAT,GAT	N58D	XP_016885420.1

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