Product Details

SNP ID

rs200078414

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41346559 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTTCTGCCGCTCCAGGTCACTG[C/T]GGATCTCCGCCAGCTGGGACTCCAC

Phenotype

MIM: 602761

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRT33A PubMed Links

Gene Details

Gene

KRT33A

Gene Name

keratin 33A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004138.3	790	Missense Mutation			NP_004129.2
XM_011524786.2	790	Missense Mutation			XP_011523088.1

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