Product Details

SNP ID

rs147314596

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:55968103 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTCTACCTGGTTTTTGAATTTCT[A/G]CACCAAGATCTCAAGAAATTCATGG

Phenotype

MIM: 116953 MIM: 155550 MIM: 179514

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CDK2 PubMed Links

Gene Details

Gene

CDK2

Gene Name

cyclin dependent kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290230.1	489	Silent Mutation	CTA,CTG	L57L	NP_001277159.1
NM_001798.4	489	Silent Mutation	CTA,CTG	L83L	NP_001789.2
NM_052827.3	489	Silent Mutation	CTA,CTG	L83L	NP_439892.2
XM_011537732.1	489	Silent Mutation	CTA,CTG	L83L	XP_011536034.1

Gene

PMEL

Gene Name

premelanosome protein

There are no transcripts associated with this gene.

Gene

RAB5B

Gene Name

RAB5B, member RAS oncogene family

There are no transcripts associated with this gene.

View Full Product Details