Product Details

SNP ID

rs141160969

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:13735162 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAACTTTCGCCGCTAGGCCTCTTA[G/T]GGCTTCCCCGGAGGCCACTGGTCTG

Phenotype

MIM: 300170 MIM: 300202

Polymorphism

G/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		Intron			NP_003602.1
XM_005274604.2		Intron			XP_005274661.1
XM_005274606.3		Intron			XP_005274663.1
XM_011545592.2		Intron			XP_011543894.1
XM_011545594.2		Intron			XP_011543896.1
XM_011545595.1		Intron			XP_011543897.1
XM_011545597.1		Intron			XP_011543899.1
XM_011545598.1		Intron			XP_011543900.1
XM_017029909.1		Intron			XP_016885398.1
XM_017029910.1		Intron			XP_016885399.1
XM_017029911.1		Intron			XP_016885400.1

Gene

TRAPPC2

Gene Name

trafficking protein particle complex 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001011658.3		Intron			NP_001011658.1
NM_001128835.2		Intron			NP_001122307.2
NM_014563.5		Intron			NP_055378.1
XM_011545565.1		Intron			XP_011543867.1
XM_011545566.2		Intron			XP_011543868.1

View Full Product Details