Product Details

SNP ID
rs202103941
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:13738888 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTATTACAACTCATTAAAATCAAC[A/C]CTACTTCCAGTCTCTACAAATCACT
Phenotype
MIM: 300170 MIM: 300202
Polymorphism
A/C, 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_003611.2 645 Missense Mutation ACT,CCT T119P NP_003602.1
XM_005274604.2 645 Missense Mutation ACT,CCT T119P XP_005274661.1
XM_005274606.3 645 Missense Mutation ACT,CCT T71P XP_005274663.1
XM_011545592.2 645 Missense Mutation ACT,CCT T55P XP_011543894.1
XM_011545594.2 645 Intron XP_011543896.1
XM_011545595.1 645 Intron XP_011543897.1
XM_011545597.1 645 UTR 5 XP_011543899.1
XM_011545598.1 645 Intron XP_011543900.1
XM_017029909.1 645 Intron XP_016885398.1
XM_017029910.1 645 Intron XP_016885399.1
XM_017029911.1 645 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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