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SNP ID

rs201340626

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3754143 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGACACCATCCAGCAGCATGGGC[A/G]TGCCGTGGTGCCGGTCTGCAAGGCA

Phenotype

MIM: 610702

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C20orf27 PubMed Links

Gene Details

Gene

C20orf27

Gene Name

chromosome 20 open reading frame 27

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039140.2	1123	Missense Mutation	ACG,ATG	T172M	NP_001034229.1
NM_001258429.1	1123	Missense Mutation	ACG,ATG	T147M	NP_001245358.1
NM_001258430.1	1123	Missense Mutation	ACG,ATG	T147M	NP_001245359.1
XM_011529266.2	1123	Missense Mutation	ACG,ATG	T131M	XP_011527568.1

Gene

HSPA12B

Gene Name

heat shock protein family A (Hsp70) member 12B

There are no transcripts associated with this gene.

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