Product Details
- SNP ID
-
rs76372072
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.22:46256839 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACAGCCTGAAATAAGTTGATCAAGA[C/T]GCAGATCATCACCAGCATGAAAGAT
- Phenotype
-
MIM: 604670
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
CDPF1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs6008362] 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
- CDPF1
- Gene Name
- cysteine rich DPF motif domain containing 1
There are no transcripts associated with this gene.
- Gene
- PKDREJ
- Gene Name
- polycystin (PKD) family receptor for egg jelly
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_006071.1 |
6484 |
Missense Mutation |
ATC,GTC |
I2162V |
NP_006062.1 |
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