Product Details

SNP ID

rs200290556

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7477306 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCCCACTAGCCACGGCGGGAAGC[A/G]GCCGGCCCACAGCACGCCCCGGGGC

Phenotype

MIM: 616432 MIM: 607583

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARHGEF18 PubMed Links

Gene Details

Gene

ARHGEF18

Gene Name

Rho/Rac guanine nucleotide exchange factor 18

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130955.1	842	Intron			NP_001124427.1
NM_015318.3	842	Intron			NP_056133.2
XM_005272464.4	842	Intron			XP_005272521.1
XM_006722705.3	842	Intron			XP_006722768.1
XM_006722706.3	842	Intron			XP_006722769.1
XM_006722708.2	842	Intron			XP_006722771.1
XM_011527835.2	842	Intron			XP_011526137.1
XM_011527836.2	842	Intron			XP_011526138.1
XM_011527837.2	842	Intron			XP_011526139.1
XM_011527838.2	842	Intron			XP_011526140.1
XM_011527839.2	842	Intron			XP_011526141.1
XM_011527840.1	842	Intron			XP_011526142.1
XM_011527841.2	842	Intron			XP_011526143.1

Gene

LOC100128573

Gene Name

uncharacterized LOC100128573

There are no transcripts associated with this gene.

Gene

PEX11G

Gene Name

peroxisomal biogenesis factor 11 gamma

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270539.1	842	Intron			NP_001257468.1
NM_001300881.1	842	Missense Mutation	CGC,TGC	R138C	NP_001287810.1
NM_080662.3	842	Missense Mutation	CGC,TGC	R208C	NP_542393.1
XM_005272506.2	842	Missense Mutation	CGC,TGC	R187C	XP_005272563.1
XM_011528426.2	842	Intron			XP_011526728.1
XM_011528427.2	842	Intron			XP_011526729.1
XM_011528428.1	842	Missense Mutation	CGC,TGC	R138C	XP_011526730.1
XM_011528429.2	842	Missense Mutation	CGC,TGC	R138C	XP_011526731.1
XM_011528431.2	842	Missense Mutation	CGC,TGC	R138C	XP_011526733.1
XM_011528432.1	842	Intron			XP_011526734.1

View Full Product Details