Product Details

SNP ID

rs16968862

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40978276 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGTGTTGCTCGAGGTGCATGTGGTC[A/G]AACATGGGCTACAGGAAAGCCTGGG

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	1378	Missense Mutation	TCG,TTG	S406L	NP_872303.2
XM_011524339.2	1378	Intron			XP_011522641.2
XM_017024189.1	1378	Missense Mutation	TCG,TTG	S459L	XP_016879678.1

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