Product Details

SNP ID: rs2069398
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:55967092 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: AAGCCAGAAACAAGTTGACGGGAGA[A/G]GTGGTGGCGCTTAAGAAAATCCGCC
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	324	Silent Mutation	GAA,GAG	E28E	NP_001277159.1
NM_001798.4	324	Silent Mutation	GAA,GAG	E28E	NP_001789.2
NM_052827.3	324	Silent Mutation	GAA,GAG	E28E	NP_439892.2
XM_011537732.1	324	Silent Mutation	GAA,GAG	E28E	XP_011536034.1

Gene: PMEL
Gene Name: premelanosome protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001200053.1	324	Intron			NP_001186982.1
NM_001200054.1	324	Intron			NP_001186983.1
NM_001320121.1	324	Intron			NP_001307050.1
NM_001320122.1	324	Intron			NP_001307051.1
NM_006928.4	324	Intron			NP_008859.1
XM_006719569.1	324	Intron			XP_006719632.1
XM_011538685.1	324	Intron			XP_011536987.1

Gene: RAB5B
Gene Name: RAB5B, member RAS oncogene family

There are no transcripts associated with this gene.

View Full Product Details