Product Details

SNP ID

rs200646454

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:14373790 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAAGAACTCTTGAATGACTTGAC[A/G]GATCCGAGGAATACGAGTGGAGCCC

Phenotype

MIM: 601100

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HSPA13 PubMed Links

Gene Details

Gene

HSPA13

Gene Name

heat shock protein family A (Hsp70) member 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006948.4	1312	Missense Mutation	CGT,TGT	R415C	NP_008879.3

View Full Product Details