Product Details

SNP ID

rs200692586

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40751260 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTTCAGCAGAACTGTGAGGTCCA[C/T]CCCGGGGGCTGCGTTCATCTCCACG

Phenotype

MIM: 616646

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRT25 PubMed Links

Gene Details

Gene

KRT25

Gene Name

keratin 25

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181534.3	785	Missense Mutation	ATG,GTG	M246V	NP_853512.1
XM_011524414.1	785	Missense Mutation	ATG,GTG	M244V	XP_011522716.1

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