Product Details

SNP ID

rs200058708

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40978224 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAGCAGCAGTTTTCAACAGTGCA[A/G]ATGACATAGGCTGAGCATGGCTCAC

Phenotype

MIM: 616679

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KRT40 PubMed Links

Gene Details

Gene

KRT40

Gene Name

keratin 40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182497.3	1430	Silent Mutation	ATC,ATT	I423I	NP_872303.2
XM_011524339.2	1430	Intron			XP_011522641.2
XM_017024189.1	1430	Silent Mutation	ATC,ATT	I476I	XP_016879678.1

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