Product Details

SNP ID
rs11095624
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:13746863 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAAAAGGAGTTAACCATGTTCCA[A/G]AATGATTTTGAAAAAGCTTGTCAAG
Phenotype
MIM: 300170
Polymorphism
A/G, 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 1153 Silent Mutation CAA,CAG Q246Q NP_003602.1
XM_005274604.2 1153 Silent Mutation CAA,CAG Q246Q XP_005274661.1
XM_005274606.3 1153 Silent Mutation CAA,CAG Q198Q XP_005274663.1
XM_011545592.2 1153 Silent Mutation CAA,CAG Q182Q XP_011543894.1
XM_011545594.2 1153 Intron XP_011543896.1
XM_011545595.1 1153 Intron XP_011543897.1
XM_011545597.1 1153 Silent Mutation CAA,CAG Q106Q XP_011543899.1
XM_011545598.1 1153 Intron XP_011543900.1
XM_017029909.1 1153 Intron XP_016885398.1
XM_017029910.1 1153 Intron XP_016885399.1
XM_017029911.1 1153 Intron XP_016885400.1

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