Product Details

SNP ID

rs199733949

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:31038284 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGCAGAGAATCCATATCCTCCGT[A/G]GTATAATGGTCGGCAACAGCTGAAT

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KRTAP19-8 PubMed Links

Gene Details

Gene

KRTAP19-8

Gene Name

keratin associated protein 19-8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099219.1	193	Missense Mutation	CAC,TAC	H54Y	NP_001092689.1

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