Product Details

SNP ID
rs73383530
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:76355514 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTACATATATTTATAAGATTGATA[C/G]CATTTTTTGTTATGAACAATGTTAA
Phenotype
MIM: 610148 MIM: 606736
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
BBS10 PubMed Links

Gene Details

Gene
BBS10
Gene Name
Bardet-Biedl syndrome 10
There are no transcripts associated with this gene.

Gene
OSBPL8
Gene Name
oxysterol binding protein like 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003712.1 3623 UTR 3 NP_001003712.1
NM_001319652.1 3623 UTR 3 NP_001306581.1
NM_001319653.1 3623 UTR 3 NP_001306582.1
NM_001319655.1 3623 UTR 3 NP_001306584.1
NM_020841.4 3623 UTR 3 NP_065892.1
XM_005268621.4 3623 UTR 3 XP_005268678.1
XM_006719224.2 3623 UTR 3 XP_006719287.1
XM_011537855.2 3623 UTR 3 XP_011536157.1
XM_011537856.2 3623 UTR 3 XP_011536158.1
XM_011537857.2 3623 UTR 3 XP_011536159.1
XM_017018768.1 3623 UTR 3 XP_016874257.1
XM_017018769.1 3623 UTR 3 XP_016874258.1

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