Product Details
- SNP ID
-
rs148577927
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:6870722 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCCTTCCCTCTGTAACAGGTGCCTT[A/G]AATTTTGGTAAAGATCGGGCAGGCA
- Phenotype
-
MIM: 602056
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DEFB1
PubMed Links
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 |
316 |
Nonsense Mutation |
CAA,TAA |
Q56* |
NP_005209.1 |
View Full Product Details