Product Details
- SNP ID
-
rs79353984
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.10:23192694 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAGGCCGAGGTGGAGTTCCTTAGCC[A/G]CCAGCTCCACGAGTACTGCTACCGC
- Phenotype
-
MIM: 607194
- Polymorphism
- A/G, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
PTF1A
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs117678424] 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
- PTF1A
- Gene Name
- pancreas specific transcription factor, 1a
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_178161.2 |
164 |
Missense Mutation |
CAC,CGC |
H55R |
NP_835455.1 |
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