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SNP ID

rs201404581

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:1630536 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCCAGCTGCTGTGTCCCCGTGTG[C/G]TGCCAGTGTAAGATCTGAGGCTCTG

Phenotype

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KRTAP5-5 PubMed Links

Gene Details

Gene

KRTAP5-5

Gene Name

keratin associated protein 5-5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001480.2	734	Missense Mutation	TGC,TGG	C232W	NP_001001480.2

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