Product Details

SNP ID
rs138623824
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:13736630 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCACTTACAAAGATGTGGCTATGA[A/G]TATTCACTTTCTGTTTTCTTTCCAG
Phenotype
MIM: 300170 MIM: 300202
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_003611.2 554 Silent Mutation GAA,GAG E88E NP_003602.1
XM_005274604.2 554 Silent Mutation GAA,GAG E88E XP_005274661.1
XM_005274606.3 554 Silent Mutation GAA,GAG E40E XP_005274663.1
XM_011545592.2 554 Intron XP_011543894.1
XM_011545594.2 554 Intron XP_011543896.1
XM_011545595.1 554 Intron XP_011543897.1
XM_011545597.1 554 UTR 5 XP_011543899.1
XM_011545598.1 554 Intron XP_011543900.1
XM_017029909.1 554 Intron XP_016885398.1
XM_017029910.1 554 Intron XP_016885399.1
XM_017029911.1 554 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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