Product Details
- SNP ID
-
rs190774992
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.15:62067713 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGCCCGCGGAGCCAAGTCTCGCACC[A/C]CCGCCGCGTGCGCAAATGTGCTCAC
- Phenotype
-
MIM: 610343
MIM: 608879
- Polymorphism
- A/C, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
C2CD4A
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs12911068] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- C2CD4A
- Gene Name
- C2 calcium dependent domain containing 4A
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_207322.2 |
241 |
Missense Mutation |
ACC,CCC |
T34P |
NP_997205.2 |
- Gene
- LOC101928907
- Gene Name
- uncharacterized LOC101928907
There are no transcripts associated with this gene.
- Gene
- VPS13C
- Gene Name
- vacuolar protein sorting 13 homolog C
There are no transcripts associated with this gene.
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