Product Details

SNP ID

rs201154283

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:50365394 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCAGTCGATGATGGCGTTGTAGGA[A/G]GCGTTTACCGAGCCGAAGTAGTACT

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	3030	Silent Mutation	GCC,GCT	A1020A	NP_001005505.1
NM_001174051.2	3030	Silent Mutation	GCC,GCT	A1027A	NP_001167522.1
NM_001291101.1	3030	Silent Mutation	GCC,GCT	A951A	NP_001278030.1
NM_006030.3	3030	Silent Mutation	GCC,GCT	A1020A	NP_006021.2
XM_005265581.4	3030	Silent Mutation	GCC,GCT	A1021A	XP_005265638.1
XM_011534243.2	3030	Silent Mutation	GCC,GCT	A1028A	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	3030	Intron			NP_001278213.1
NM_007022.4	3030	Intron			NP_008953.1

Gene

TMEM115

Gene Name

transmembrane protein 115

There are no transcripts associated with this gene.

View Full Product Details