Product Details

SNP ID
rs12671396
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:33133278 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CAATTCAAATACCATACAATTCACC[C/T]ATTTAACACATAAAATTCAGTTCCT
Phenotype
MIM: 607968
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BBS9 PubMed Links

Gene Details

Gene
BBS9
Gene Name
Bardet-Biedl syndrome 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033604.1 Intron NP_001028776.1
NM_001033605.1 Intron NP_001028777.1
NM_014451.3 Intron NP_055266.2
NM_198428.2 Intron NP_940820.1
XM_005249700.3 Intron XP_005249757.1
XM_005249701.2 Intron XP_005249758.1
XM_011515264.2 Intron XP_011513566.1
XM_011515265.2 Intron XP_011513567.1
XM_011515266.2 Intron XP_011513568.1
XM_011515267.2 Intron XP_011513569.1
XM_011515268.1 Intron XP_011513570.1
XM_011515269.2 Intron XP_011513571.1
XM_011515270.2 Intron XP_011513572.1
XM_017011990.1 Intron XP_016867479.1
XM_017011991.1 Intron XP_016867480.1
XM_017011992.1 Intron XP_016867481.1
XM_017011993.1 Intron XP_016867482.1
XM_017011994.1 Intron XP_016867483.1

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