Product Details
- SNP ID
-
rs121434284
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.15:40405952 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCGTGGACGATGCAATCAATGGGC[C/T]AAGCGAGGAGCAGAGGCAGGTGAGG
- Phenotype
-
MIM: 607036
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
IVD
PubMed Links
Gene Details
- Gene
- IVD
- Gene Name
- isovaleryl-CoA dehydrogenase
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001159508.1 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
NP_001152980.1 |
NM_002225.3 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
NP_002216.2 |
XM_005254350.2 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
XP_005254407.1 |
XM_006720492.2 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
XP_006720555.1 |
XM_006720495.2 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
XP_006720558.1 |
XM_017022149.1 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
XP_016877638.1 |
XM_017022150.1 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
XP_016877639.1 |
XM_017022151.1 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
XP_016877640.1 |
XM_017022152.1 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
XP_016877641.1 |
XM_017022153.1 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
XP_016877642.1 |
XM_017022154.1 |
165 |
Intron |
|
|
XP_016877643.1 |
XM_017022155.1 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
XP_016877644.1 |
XM_017022156.1 |
165 |
UTR 5 |
|
|
XP_016877645.1 |
XM_017022157.1 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
XP_016877646.1 |
XM_017022158.1 |
165 |
Missense Mutation |
CCA,CTA |
P45L |
XP_016877647.1 |
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