Product Details

SNP ID

rs201611235

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:1585114 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCACACGGGCTTGCAGCAGCAGA[C/T]GGGCACACAGCAGCTGGAGCCAGAA

Phenotype

MIM: 148022

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRTAP5-1 PubMed Links

Gene Details

Gene

KRTAP5-1

Gene Name

keratin associated protein 5-1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005922.1	170	Missense Mutation	ATC,GTC	I46V	NP_001005922.1

Gene

KRTAP5-AS1

Gene Name

KRTAP5-1/KRTAP5-2 antisense RNA 1

There are no transcripts associated with this gene.

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