Product Details

SNP ID

rs200149903

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40656561 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAATCGAAGAGAAACAGACTTTTT[C/T]CTCAATCGAGGGTTATCTTTAAAGA

Phenotype

MIM: 603111

Polymorphism

C/T, Transition 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	794	Silent Mutation	AGA,AGG	R243R	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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