Product Details

SNP ID

rs142846778

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:81950430 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGTGCTGCCAGATACCAGCCAAA[A/G]TAGTAGAAACTGGATTCCAATGATA

Phenotype

MIM: 114204

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CACNA2D1 PubMed Links

Gene Details

Gene

CACNA2D1

Gene Name

calcium voltage-gated channel auxiliary subunit alpha2delta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000722.3	3713	Missense Mutation	CTT,TTT	L1080F	NP_000713.2
NM_001302890.1	3713	Intron			NP_001289819.1
XM_005250570.2	3713	Missense Mutation	CTT,TTT	L1092F	XP_005250627.1
XM_005250572.2	3713	Missense Mutation	CTT,TTT	L1075F	XP_005250629.1
XM_005250573.2	3713	Missense Mutation	CTT,TTT	L1073F	XP_005250630.1
XM_005250574.2	3713	Missense Mutation	CTT,TTT	L1068F	XP_005250631.1
XM_006716118.2	3713	Missense Mutation	CTT,TTT	L1099F	XP_006716181.1
XM_006716119.3	3713	Missense Mutation	CTT,TTT	L1074F	XP_006716182.1
XM_006716120.3	3713	Missense Mutation	CTT,TTT	L1060F	XP_006716183.1
XM_006716121.3	3713	Missense Mutation	CTT,TTT	L569F	XP_006716184.1
XM_011516570.2	3713	Intron			XP_011514872.1
XM_011516571.2	3713	Missense Mutation	CTT,TTT	L1094F	XP_011514873.1
XM_011516572.2	3713	Missense Mutation	CTT,TTT	L1087F	XP_011514874.1
XM_017012588.1	3713	Missense Mutation	CTT,TTT	L1041F	XP_016868077.1

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