Product Details

SNP ID
rs309354
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:122730608 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCCTCGTTTATTTCTCCATCTC[C/T]ATCATGATCAGCTTCATCAAGCATT
Phenotype
MIM: 610683
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
BBS12 PubMed Links

Gene Details

Gene
BBS12
Gene Name
Bardet-Biedl syndrome 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001178007.1 Intron NP_001171478.1
NM_152618.2 Intron NP_689831.2
XM_011531680.2 Intron XP_011529982.1
XM_017007831.1 Intron XP_016863320.1
Gene
CETN4P
Gene Name
centrin 4, pseudogene
There are no transcripts associated with this gene.

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