Product Details

SNP ID

hCV27861388

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:2884009 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCGCTGTACTCACTTGGCTCACC[A/G]CAGCCTCTTGCGCGGGGTCTGCTCC

Phenotype

MIM: 600856 MIM: 603240

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CDKN1C PubMed Links

Gene Details

Gene

CDKN1C

Gene Name

cyclin dependent kinase inhibitor 1C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000076.2	1055	Missense Mutation	CGG,TGG	R316W	NP_000067.1
NM_001122630.1	1055	Missense Mutation	CGG,TGG	R305W	NP_001116102.1
NM_001122631.1	1055	Missense Mutation	CGG,TGG	R305W	NP_001116103.1

Gene

SLC22A18AS

Gene Name

solute carrier family 22 member 18 antisense

There are no transcripts associated with this gene.

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