Product Details

SNP ID

rs145861447

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40750525 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGCTCCTCCAGGGCCCCGATCT[A/G]AGCCTGGATCTGCGCCAGCTGCGCA

Phenotype

MIM: 616646

Polymorphism

A/G, 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	1079	Nonsense Mutation	CAG,TAG	Q344*	NP_853512.1
XM_011524414.1	1079	Nonsense Mutation	CAG,TAG	Q342*	XP_011522716.1

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