Product Details

SNP ID
rs141708295
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:13744478 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCAAGCTAAAGAGAGTTGTAATA[C/T]GGAAACTCAGACAAGTTCGACATTT
Phenotype
MIM: 300170 MIM: 300202
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_003611.2 891 Missense Mutation ACG,ATG T159M NP_003602.1
XM_005274604.2 891 Missense Mutation ACG,ATG T159M XP_005274661.1
XM_005274606.3 891 Missense Mutation ACG,ATG T111M XP_005274663.1
XM_011545592.2 891 Missense Mutation ACG,ATG T95M XP_011543894.1
XM_011545594.2 891 Intron XP_011543896.1
XM_011545595.1 891 Intron XP_011543897.1
XM_011545597.1 891 Missense Mutation ACG,ATG T19M XP_011543899.1
XM_011545598.1 891 Intron XP_011543900.1
XM_017029909.1 891 Intron XP_016885398.1
XM_017029910.1 891 Intron XP_016885399.1
XM_017029911.1 891 Intron XP_016885400.1
Gene
TRAPPC2
Gene Name
trafficking protein particle complex 2
There are no transcripts associated with this gene.

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