Product Details
- SNP ID
-
rs200670479
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:137882790 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATCGGGATCTTTTGCTTCGAGGCAG[A/G]GATCAAAATCATCGCTCTGGGCTTT
- Phenotype
-
MIM: 601012
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CACNA1B
PubMed Links
Gene Details
- Gene
- CACNA1B
- Gene Name
- calcium voltage-gated channel subunit alpha1 B
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000718.3 |
545 |
Missense Mutation |
GAG,GGG |
E146G |
NP_000709.1 |
NM_001243812.1 |
545 |
Missense Mutation |
GAG,GGG |
E146G |
NP_001230741.1 |
XM_011518991.2 |
545 |
Missense Mutation |
GAG,GGG |
E146G |
XP_011517293.1 |
XM_011518992.2 |
545 |
Missense Mutation |
GAG,GGG |
E146G |
XP_011517294.1 |
XM_011518993.2 |
545 |
Missense Mutation |
GAG,GGG |
E146G |
XP_011517295.1 |
XM_011518994.2 |
545 |
Missense Mutation |
GAG,GGG |
E146G |
XP_011517296.1 |
XM_017015115.1 |
545 |
Missense Mutation |
GAG,GGG |
E146G |
XP_016870604.1 |
XM_017015116.1 |
545 |
Missense Mutation |
GAG,GGG |
E146G |
XP_016870605.1 |
XM_017015117.1 |
545 |
Missense Mutation |
GAG,GGG |
E146G |
XP_016870606.1 |
XM_017015118.1 |
545 |
Missense Mutation |
GAG,GGG |
E146G |
XP_016870607.1 |
XM_017015119.1 |
545 |
Missense Mutation |
GAG,GGG |
E146G |
XP_016870608.1 |
XM_017015120.1 |
545 |
Missense Mutation |
GAG,GGG |
E146G |
XP_016870609.1 |
- Gene
- LOC100133077
- Gene Name
- uncharacterized LOC100133077
There are no transcripts associated with this gene.
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