Product Details
- SNP ID
-
rs16823068
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:169482476 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- AGTTAAATTCACATAAGACTTTTCT[A/C]AGATTTAAACAGAAGACAGGATAGG
- Phenotype
-
MIM: 603650
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
BBS5
PubMed Links
Gene Details
- Gene
- BBS5
- Gene Name
- Bardet-Biedl syndrome 5
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_152384.2 |
|
Intron |
|
|
NP_689597.1 |
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