Product Details
- SNP ID
-
rs201508504
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:6870694 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTCACTCCCAGCTCACTTGCAGCAC[C/T]TGGCCTTCCCTCTGTAACAGGTGCC
- Phenotype
-
MIM: 602056
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
DEFB1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs1047031] are located under a primer 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
- DEFB1
- Gene Name
- defensin beta 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_005218.3 |
344 |
Missense Mutation |
AAG,AGG |
K65R |
NP_005209.1 |
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