Product Details

SNP ID
rs142243482
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:66523753 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAGCTGTGGACAGTGCAGATGCC[C/T]GCAGCCATCCTGACCATGAACCTCC
Phenotype
MIM: 209901
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
BBS1 PubMed Links

Gene Details

Gene
BBS1
Gene Name
Bardet-Biedl syndrome 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024649.4 993 Silent Mutation CCC,CCT P327P NP_078925.3
Gene
ZDHHC24
Gene Name
zinc finger DHHC-type containing 24
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_207340.1 993 Intron NP_997223.1
XM_005273874.3 993 Intron XP_005273931.1
XM_011544893.2 993 Intron XP_011543195.1
XM_011544894.1 993 Intron XP_011543196.1

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