Product Details

SNP ID
rs139145556
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:66521291 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGATGAGCCTTCCCAGCGTCCCC[A/G]TCTTCCTAGAGGTTTCTGGCCAGTT
Phenotype
MIM: 209901
Polymorphism
A/G, 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_024649.4 757 Missense Mutation ATC,GTC I249V 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_207340.1 757 Intron NP_997223.1
XM_005273874.3 757 Intron XP_005273931.1
XM_011544893.2 757 Intron XP_011543195.1
XM_011544894.1 757 Intron XP_011543196.1

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