Product Details
- SNP ID
-
rs12199734
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:50715300 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACCCCGCTCCACCACCAGTCCTTCC[A/G]TTACGAGTTTCAGCACAGCCACCCG
- Phenotype
-
MIM: 610161
- Polymorphism
- A/G, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
TFAP2D
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs78648104] 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
- TFAP2D
- Gene Name
- transcription factor AP-2 delta
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_172238.3 |
736 |
Missense Mutation |
CAT,CGT |
H75R |
NP_758438.2 |
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