Product Details
- SNP ID
-
rs929949
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:27696863 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- CTGGATTTGGACCTTTTGGGGATCC[A/G]ACAAGCAAATAAAGCTTCAGCTCGC
- Phenotype
-
MIM: 603141
MIM: 610848
- Polymorphism
- A/G, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
PPFIBP1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs929948] 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
- PPFIBP1
- Gene Name
- PPFIA binding protein 1
There are no transcripts associated with this gene.
- Gene
- REP15
- Gene Name
- RAB15 effector protein
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001029874.1 |
369 |
Missense Mutation |
AAC,GAC |
N101D |
NP_001025045.1 |
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