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SNP ID

rs147427257

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:30337422 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGAGTAAGTAGTTTGGACAACTC[C/T]GGGGAAGCAGTTACTTTGCACACAG

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRTAP27-1 PubMed Links

Gene Details

Gene

KRTAP27-1

Gene Name

keratin associated protein 27-1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077711.1	273	Missense Mutation	AGA,GGA	R83G	NP_001071179.1

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