Product Details

SNP ID

rs139112704

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40656541 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGGCTGCTAAATGAAGATCAAAT[A/C]GAAGAGAAACAGACTTTTTCCTCAA

Phenotype

MIM: 603111

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

KRT222 PubMed Links

Gene Details

Gene

KRT222

Gene Name

keratin 222

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152349.2	814	Missense Mutation			NP_689562.1

Gene

SMARCE1

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

There are no transcripts associated with this gene.

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