Product Details

SNP ID

rs1053734

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52487811 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAACAGAGCTGAGGCCACCCCCA[A/G]TGGCTCTGCCACTGCTGGAACTGAA

Phenotype

MIM: 148041

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KRT6A PubMed Links

Gene Details

Gene

KRT6A

Gene Name

keratin 6A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005554.3	1813	Missense Mutation			NP_005545.1

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