Product Details

SNP ID

rs56110425

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:63655590 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTTCTTGGCAAAGAACAGATGTA[C/T]CTCCTCAGTCTCCTTGTTGTGAAGC

Phenotype

MIM: 300429

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARHGEF9 PubMed Links

Gene Details

Gene

ARHGEF9

Gene Name

Cdc42 guanine nucleotide exchange factor 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001173479.1	2132	Missense Mutation	ATA,GTA	I349V	NP_001166950.1
NM_001173480.1	2132	Missense Mutation	ATA,GTA	I300V	NP_001166951.1
NM_015185.2	2132	Missense Mutation	ATA,GTA	I402V	NP_056000.1
XM_005262249.2	2132	Missense Mutation	ATA,GTA	I409V	XP_005262306.1
XM_005262250.3	2132	Missense Mutation	ATA,GTA	I381V	XP_005262307.1
XM_005262251.1	2132	Missense Mutation	ATA,GTA	I381V	XP_005262308.1
XM_005262252.1	2132	Missense Mutation	ATA,GTA	I381V	XP_005262309.1
XM_011530890.1	2132	Missense Mutation	ATA,GTA	I402V	XP_011529192.1
XM_011530892.1	2132	Missense Mutation	ATA,GTA	I342V	XP_011529194.1
XM_017029363.1	2132	Missense Mutation	ATA,GTA	I407V	XP_016884852.1
XM_017029364.1	2132	Missense Mutation	ATA,GTA	I407V	XP_016884853.1
XM_017029365.1	2132	Missense Mutation	ATA,GTA	I402V	XP_016884854.1
XM_017029366.1	2132	Missense Mutation	ATA,GTA	I402V	XP_016884855.1
XM_017029367.1	2132	Missense Mutation	ATA,GTA	I381V	XP_016884856.1
XM_017029368.1	2132	Missense Mutation	ATA,GTA	I381V	XP_016884857.1
XM_017029369.1	2132	Missense Mutation	ATA,GTA	I365V	XP_016884858.1
XM_017029370.1	2132	Missense Mutation	ATA,GTA	I358V	XP_016884859.1
XM_017029371.1	2132	Missense Mutation	ATA,GTA	I337V	XP_016884860.1
XM_017029372.1	2132	Missense Mutation	ATA,GTA	I337V	XP_016884861.1
XM_017029373.1	2132	Missense Mutation	ATA,GTA	I300V	XP_016884862.1
XM_017029374.1	2132	Missense Mutation	ATA,GTA	I298V	XP_016884863.1
XM_017029375.1	2132	Intron			XP_016884864.1
XM_017029376.1	2132	Intron			XP_016884865.1
XM_017029377.1	2132	Intron			XP_016884866.1
XM_017029378.1	2132	UTR 3			XP_016884867.1
XM_017029379.1	2132	Intron			XP_016884868.1
XM_017029380.1	2132	Intron			XP_016884869.1

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