Product Details

SNP ID

rs146247884

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41394924 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCGGGCACGCACATCCAGCAGCA[C/T]CTGGTACTCCTGGTTCTGCCGCTCC

Phenotype

MIM: 601077

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRT31 PubMed Links

Gene Details

Gene

KRT31

Gene Name

keratin 31

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002277.2	1074	Missense Mutation	ATG,GTG	M341V	NP_002268.2

Gene

LOC100505782

Gene Name

uncharacterized LOC100505782

There are no transcripts associated with this gene.

View Full Product Details