Product Details

SNP ID
rs139848884
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:13746839 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAAAATGGAAGCAAAAAAAAAGTA[C/T]GAAAAGGAGTTAACCATGTTCCAGA
Phenotype
MIM: 300170
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
OFD1 PubMed Links

Gene Details

Gene
OFD1
Gene Name
OFD1, centriole and centriolar satellite protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003611.2 1129 Silent Mutation TAC,TAT Y238Y NP_003602.1
XM_005274604.2 1129 Silent Mutation TAC,TAT Y238Y XP_005274661.1
XM_005274606.3 1129 Silent Mutation TAC,TAT Y190Y XP_005274663.1
XM_011545592.2 1129 Silent Mutation TAC,TAT Y174Y XP_011543894.1
XM_011545594.2 1129 Intron XP_011543896.1
XM_011545595.1 1129 Intron XP_011543897.1
XM_011545597.1 1129 Silent Mutation TAC,TAT Y98Y XP_011543899.1
XM_011545598.1 1129 Intron XP_011543900.1
XM_017029909.1 1129 Intron XP_016885398.1
XM_017029910.1 1129 Intron XP_016885399.1
XM_017029911.1 1129 Intron XP_016885400.1

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