Product Details

SNP ID
rs144194892
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:82830324 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCTCAGTGTGGGTGTGTCTTGCC[C/G]GCAGGCAGGTTCCGGGGCCGCAGCA
Phenotype
MIM: 604649 MIM: 610226
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TBCD PubMed Links

Gene Details

Gene
TBCD
Gene Name
tubulin folding cofactor D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005993.4 2301 Intron NP_005984.3
XM_005256396.4 2301 Intron XP_005256453.1
XM_005256399.4 2301 Intron XP_005256456.1
XM_005256404.4 2301 Intron XP_005256461.1
XM_006722290.2 2301 Intron XP_006722353.1
XM_006722291.3 2301 Intron XP_006722354.1
XM_006722292.2 2301 Intron XP_006722355.1
XM_011523589.1 2301 Intron XP_011521891.1
XM_011523590.1 2301 Intron XP_011521892.1
XM_011523591.1 2301 Intron XP_011521893.1
XM_011523593.1 2301 Intron XP_011521895.1
XM_011523594.1 2301 Intron XP_011521896.1
XM_011523595.2 2301 Intron XP_011521897.1
XM_011523597.2 2301 Intron XP_011521899.1
XM_011523598.1 2301 Intron XP_011521900.1
XM_011523599.2 2301 Intron XP_011521901.1
XM_011523600.2 2301 Intron XP_011521902.1
XM_017024987.1 2301 Intron XP_016880476.1
XM_017024988.1 2301 Intron XP_016880477.1
XM_017024989.1 2301 Intron XP_016880478.1
XM_017024990.1 2301 Intron XP_016880479.1
Gene
ZNF750
Gene Name
zinc finger protein 750
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024702.2 2301 Missense Mutation CGG,GGG R664G NP_078978.2

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