Product Details
- SNP ID
-
rs148434007
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.4:184091248 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGCCAGACAGGCGGGGCAGTGCTGG[C/T]GCGGCCCTTCAGCATGCACATCACC
- Phenotype
-
MIM: 616983
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
ENPP6
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs4479748] 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
- ENPP6
- Gene Name
- ectonucleotide pyrophosphatase/phosphodiesterase 6
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_153343.3 |
1394 |
Missense Mutation |
ACC,GCC |
T418A |
NP_699174.1 |
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