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SNP ID: rs11539636
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:50362963 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGTACAAAATAGAACAACAAAAAAA[A/G]GGCAGAGAAAAGGAAATGGCCCCCC
Phenotype: MIM: 607082 MIM: 607068 MIM: 607069
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CACNA2D2 PubMed Links

Gene Details

Gene: CACNA2D2
Gene Name: calcium voltage-gated channel auxiliary subunit alpha2delta 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005505.2	5111	UTR 3			NP_001005505.1
NM_001174051.2	5111	UTR 3			NP_001167522.1
NM_001291101.1	5111	UTR 3			NP_001278030.1
NM_006030.3	5111	UTR 3			NP_006021.2
XM_005265581.4	5111	UTR 3			XP_005265638.1
XM_011534243.2	5111	UTR 3			XP_011532545.1

Gene: CYB561D2
Gene Name: cytochrome b561 family member D2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291284.1	5111	Intron			NP_001278213.1
NM_007022.4	5111	Intron			NP_008953.1

Gene: TMEM115
Gene Name: transmembrane protein 115

There are no transcripts associated with this gene.

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