Product Details

SNP ID
rs148423012
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:56470679 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACCACTGATATCACTGAAGAAGG[A/G]ACTAGCCATAGTCCTCCTGAGCCAG
Phenotype
MIM: 606151 MIM: 615857
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BBS2 PubMed Links

Gene Details

Gene
BBS2
Gene Name
Bardet-Biedl syndrome 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_031885.3 1341 Intron NP_114091.3
XM_005256080.2 1341 Intron XP_005256137.1
Gene
OGFOD1
Gene Name
2-oxoglutarate and iron dependent oxygenase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001324357.1 1341 Silent Mutation GGA,GGG G390G NP_001311286.1
NM_001324358.1 1341 Silent Mutation GGA,GGG G336G NP_001311287.1
NM_001324359.1 1341 Silent Mutation GGA,GGG G294G NP_001311288.1
NM_001324360.1 1341 Silent Mutation GGA,GGG G294G NP_001311289.1
NM_001324361.1 1341 Silent Mutation GGA,GGG G336G NP_001311290.1
NM_001324362.1 1341 Silent Mutation GGA,GGG G251G NP_001311291.1
NM_001324363.1 1341 Silent Mutation GGA,GGG G353G NP_001311292.1
NM_018233.3 1341 Silent Mutation GGA,GGG G391G NP_060703.3

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