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SNP ID: rs3087335
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:55967052 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTGGAAAAGATCGGAGAGGGCACGT[A/C]CGGAGTTGTGTACAAAGCCAGAAAC
Phenotype: MIM: 116953 MIM: 155550 MIM: 179514
Polymorphism: A/C, Transversion 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	284	Missense Mutation	TAC,TCC	Y15S	NP_001277159.1
NM_001798.4	284	Missense Mutation	TAC,TCC	Y15S	NP_001789.2
NM_052827.3	284	Missense Mutation	TAC,TCC	Y15S	NP_439892.2
XM_011537732.1	284	Missense Mutation	TAC,TCC	Y15S	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	284	Intron			NP_001186982.1
NM_001200054.1	284	Intron			NP_001186983.1
NM_001320121.1	284	Intron			NP_001307050.1
NM_001320122.1	284	Intron			NP_001307051.1
NM_006928.4	284	Intron			NP_008859.1
XM_006719569.1	284	Intron			XP_006719632.1
XM_011538685.1	284	Intron			XP_011536987.1

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

There are no transcripts associated with this gene.

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