Product Details

SNP ID

rs200976346

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:72056840 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAGGTTTTGTCTGGCAGGTTCCC[A/G]GGTCTAAAAGACATCCATGGAAGGG

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C9orf57 PubMed Links

Gene Details

Gene

C9orf57

Gene Name

chromosome 9 open reading frame 57

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128618.1	107	Missense Mutation	CCG,CTG	P56L	NP_001122090.1
XM_011518225.2	107	Missense Mutation	CCG,CTG	P6L	XP_011516527.1

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