Product Details

SNP ID

rs144230456

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7477342 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCACGCCCCGGGGCAGCCAGTGCA[C/T]GGCGTTGGCCAGGTCGGCCAGGTTG

Phenotype

MIM: 616432 MIM: 607583

Polymorphism

C/T, 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	806	Intron			NP_001124427.1
NM_015318.3	806	Intron			NP_056133.2
XM_005272464.4	806	Intron			XP_005272521.1
XM_006722705.3	806	Intron			XP_006722768.1
XM_006722706.3	806	Intron			XP_006722769.1
XM_006722708.2	806	Intron			XP_006722771.1
XM_011527835.2	806	Intron			XP_011526137.1
XM_011527836.2	806	Intron			XP_011526138.1
XM_011527837.2	806	Intron			XP_011526139.1
XM_011527838.2	806	Intron			XP_011526140.1
XM_011527839.2	806	Intron			XP_011526141.1
XM_011527840.1	806	Intron			XP_011526142.1
XM_011527841.2	806	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	806	Intron			NP_001257468.1
NM_001300881.1	806	Missense Mutation	ATG,GTG	M126V	NP_001287810.1
NM_080662.3	806	Missense Mutation	ATG,GTG	M196V	NP_542393.1
XM_005272506.2	806	Missense Mutation	ATG,GTG	M175V	XP_005272563.1
XM_011528426.2	806	Intron			XP_011526728.1
XM_011528427.2	806	Intron			XP_011526729.1
XM_011528428.1	806	Missense Mutation	ATG,GTG	M126V	XP_011526730.1
XM_011528429.2	806	Missense Mutation	ATG,GTG	M126V	XP_011526731.1
XM_011528431.2	806	Missense Mutation	ATG,GTG	M126V	XP_011526733.1
XM_011528432.1	806	Intron			XP_011526734.1

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