Product Details

SNP ID
rs12841518
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:13736675 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCAGAAAGTGGTTTGGCAAAAGA[A/T]AAGGTAAAGTCTTTCCTTTTCTGTT
Phenotype
MIM: 300170 MIM: 300202
Polymorphism
A/T, Transversion 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_003611.2 599 Missense Mutation GAA,GAT E103D NP_003602.1
XM_005274604.2 599 Missense Mutation GAA,GAT E103D XP_005274661.1
XM_005274606.3 599 Missense Mutation GAA,GAT E55D XP_005274663.1
XM_011545592.2 599 Missense Mutation GAA,GAT E39D XP_011543894.1
XM_011545594.2 599 Intron XP_011543896.1
XM_011545595.1 599 Intron XP_011543897.1
XM_011545597.1 599 UTR 5 XP_011543899.1
XM_011545598.1 599 Intron XP_011543900.1
XM_017029909.1 599 Intron XP_016885398.1
XM_017029910.1 599 Intron XP_016885399.1
XM_017029911.1 599 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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