Product Details

SNP ID
rs111899718
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:121825968 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTGGTGCCTTTAAACTTAAATTT[A/G]TCTATGAAAAGATCAGTGATCATGC
Phenotype
MIM: 607590 MIM: 123835 MIM: 606180
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
BBS7 PubMed Links

Gene Details

Gene
BBS7
Gene Name
Bardet-Biedl syndrome 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018190.3 2224 Intron NP_060660.2
NM_176824.2 2224 Silent Mutation GAC,GAT D680D NP_789794.1
XM_005263106.3 2224 Silent Mutation GAC,GAT D681D XP_005263163.1
XM_011532079.2 2224 Silent Mutation GAC,GAT D696D XP_011530381.1
XM_011532080.2 2224 Silent Mutation GAC,GAT D695D XP_011530382.1
XM_011532081.2 2224 Silent Mutation GAC,GAT D641D XP_011530383.1
XM_017008357.1 2224 Silent Mutation GAC,GAT D625D XP_016863846.1
XM_017008358.1 2224 UTR 3 XP_016863847.1
Gene
CCNA2
Gene Name
cyclin A2
There are no transcripts associated with this gene.

Gene
EXOSC9
Gene Name
exosome component 9
There are no transcripts associated with this gene.

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