Product Details
- SNP ID
-
rs201585683
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:54123583 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGCTGCTAAGTACTCCGGTTCCCAG[C/G]TTCTGCAAAAGGTAAGGTTTCTGTG
- Phenotype
-
MIM: 606399
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
CACNA2D3
PubMed Links
Gene Details
- Gene
- CACNA2D3
- Gene Name
- calcium voltage-gated channel auxiliary subunit alpha2delta 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_018398.2 |
313 |
Missense Mutation |
CTT,GTT |
L65V |
NP_060868.2 |
XM_005265318.2 |
313 |
Missense Mutation |
CTT,GTT |
L65V |
XP_005265375.1 |
XM_011533946.2 |
313 |
Missense Mutation |
CTT,GTT |
L65V |
XP_011532248.1 |
XM_011533947.2 |
313 |
Missense Mutation |
CTT,GTT |
L65V |
XP_011532249.1 |
XM_011533948.2 |
313 |
Missense Mutation |
CTT,GTT |
L65V |
XP_011532250.1 |
XM_011533949.2 |
313 |
Missense Mutation |
CTT,GTT |
L65V |
XP_011532251.1 |
XM_011533950.2 |
313 |
Missense Mutation |
CTT,GTT |
L65V |
XP_011532252.1 |
XM_011533951.2 |
313 |
Missense Mutation |
CTT,GTT |
L65V |
XP_011532253.1 |
XM_011533952.2 |
313 |
Missense Mutation |
CTT,GTT |
L65V |
XP_011532254.1 |
XM_011533953.2 |
313 |
Missense Mutation |
CTT,GTT |
L65V |
XP_011532255.1 |
XM_011533954.2 |
313 |
Intron |
|
|
XP_011532256.1 |
XM_011533955.1 |
313 |
Intron |
|
|
XP_011532257.1 |
XM_017006850.1 |
313 |
Missense Mutation |
CTT,GTT |
L65V |
XP_016862339.1 |
XM_017006851.1 |
313 |
Intron |
|
|
XP_016862340.1 |
XM_017006852.1 |
313 |
Missense Mutation |
CTT,GTT |
L65V |
XP_016862341.1 |
XM_017006853.1 |
313 |
Intron |
|
|
XP_016862342.1 |
XM_017006854.1 |
313 |
Intron |
|
|
XP_016862343.1 |
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