Product Details
- SNP ID
-
rs138067622
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:4970430 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTCACTGAGCCCCACAGCCCCTGTC[C/T]GCTCCCGCATTGAGGCTCCAGCCTC
- Phenotype
-
MIM: 611508
MIM: 610056
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CAMTA2
PubMed Links
Gene Details
- Gene
- CAMTA2
- Gene Name
- calmodulin binding transcription activator 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001171166.1 |
3699 |
Missense Mutation |
CAG,CGG |
Q974R |
NP_001164637.1 |
| NM_001171167.1 |
3699 |
Missense Mutation |
CAG,CGG |
Q995R |
NP_001164638.1 |
| NM_001171168.1 |
3699 |
Missense Mutation |
CAG,CGG |
Q971R |
NP_001164639.1 |
| NM_015099.3 |
3699 |
Missense Mutation |
CAG,CGG |
Q972R |
NP_055914.2 |
| XM_006721478.3 |
3699 |
Missense Mutation |
CAG,CGG |
Q977R |
XP_006721541.1 |
| XM_006721481.3 |
3699 |
Missense Mutation |
CAG,CGG |
Q948R |
XP_006721544.1 |
| XM_006721482.3 |
3699 |
Missense Mutation |
CAG,CGG |
Q785R |
XP_006721545.1 |
| XM_011523746.2 |
3699 |
Missense Mutation |
CAG,CGG |
Q1000R |
XP_011522048.1 |
| XM_011523747.2 |
3699 |
Missense Mutation |
CAG,CGG |
Q995R |
XP_011522049.1 |
| XM_011523748.2 |
3699 |
Missense Mutation |
CAG,CGG |
Q1000R |
XP_011522050.1 |
| XM_011523749.2 |
3699 |
Missense Mutation |
CAG,CGG |
Q995R |
XP_011522051.1 |
- Gene
- MIR6864
- Gene Name
- microRNA 6864
There are no transcripts associated with this gene.
- Gene
- MIR6865
- Gene Name
- microRNA 6865
There are no transcripts associated with this gene.
- Gene
- SPAG7
- Gene Name
- sperm associated antigen 7
There are no transcripts associated with this gene.
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