Product Details

SNP ID

rs200613884

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:30813083 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTAGCCGAAAGCCCCACAGCCGTT[G/T]TAGCCATAGCCGAAGCCATAGCCCA

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KRTAP8-1 PubMed Links

Gene Details

Gene

KRTAP8-1

Gene Name

keratin associated protein 8-1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175857.3	170	Nonsense Mutation	TAA,TAC	*46Y	NP_787053.1

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