Product Details

SNP ID
rs74021405
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:72685985 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTACAGACCATGTACAGACCACGG[C/G]GAGGGGTGTTAGGGGCTTCTCGGGA
Phenotype
MIM: 600374
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
BBS4 PubMed Links

Gene Details

Gene
BBS4
Gene Name
Bardet-Biedl syndrome 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001252678.1 Intron NP_001239607.1
NM_001320665.1 Intron NP_001307594.1
NM_033028.4 Intron NP_149017.2
XM_011521848.1 Intron XP_011520150.1
XM_011521849.1 Intron XP_011520151.1
XM_011521851.1 Intron XP_011520153.1
XM_017022450.1 Intron XP_016877939.1
XM_017022451.1 Intron XP_016877940.1
XM_017022452.1 Intron XP_016877941.1
XM_017022453.1 Intron XP_016877942.1
XM_017022454.1 Intron XP_016877943.1
Gene
HIGD2B
Gene Name
HIG1 hypoxia inducible domain family member 2B
There are no transcripts associated with this gene.

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