Product Details

SNP ID
rs139045352
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:169510093 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTCAATGACGGAAATGTGCAAGA[C/T]ATTTTTGCATTGGCCAGCCGCTTTC
Phenotype
MIM: 603650 MIM: 607701
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
BBS5 PubMed Links

Gene Details

Gene
BBS5
Gene Name
Bardet-Biedl syndrome 5
There are no transcripts associated with this gene.

Gene
KLHL41
Gene Name
kelch like family member 41
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006063.2 392 Silent Mutation GAC,GAT D105D NP_006054.2

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