Product Details

SNP ID
rs78913093
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:66511054 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTGGTTGGATGCGCACTACGACC[A/C]AATGGCCAATATCCACACCTTTTCT
Phenotype
MIM: 209901 MIM: 606818
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
BBS1 PubMed Links

Gene Details

Gene
BBS1
Gene Name
Bardet-Biedl syndrome 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024649.4 101 Missense Mutation CAA,CCA Q30P NP_078925.3
Gene
DPP3
Gene Name
dipeptidyl peptidase 3
There are no transcripts associated with this gene.

Gene
ZDHHC24
Gene Name
zinc finger DHHC-type containing 24
There are no transcripts associated with this gene.

View Full Product Details