Product Details

SNP ID

rs140378313

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:136668145 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTTGATTTCAGTTCTTCTTCCA[G/T]GCATTGCTTCATTCTTTTATTTTCC

Phenotype

MIM: 300267 MIM: 300386

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ARHGEF6 PubMed Links

Gene Details

Gene

ARHGEF6

Gene Name

Rac/Cdc42 guanine nucleotide exchange factor 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306177.1	3082	Missense Mutation	ATG,CTG	M585L	NP_001293106.1
NM_004840.2	3082	Missense Mutation	ATG,CTG	M739L	NP_004831.1
XM_005262499.2	3082	Missense Mutation	ATG,CTG	M690L	XP_005262556.1
XM_011531412.2	3082	Missense Mutation	ATG,CTG	M766L	XP_011529714.1
XM_011531413.1	3082	Missense Mutation	ATG,CTG	M743L	XP_011529715.1
XM_011531414.1	3082	Missense Mutation	ATG,CTG	M736L	XP_011529716.1
XM_011531415.2	3082	Missense Mutation	ATG,CTG	M709L	XP_011529717.1
XM_011531416.2	3082	Missense Mutation	ATG,CTG	M612L	XP_011529718.1
XM_011531417.1	3082	Missense Mutation	ATG,CTG	M589L	XP_011529719.1
XM_017029975.1	3082	Missense Mutation	ATG,CTG	M770L	XP_016885464.1
XM_017029976.1	3082	Missense Mutation	ATG,CTG	M536L	XP_016885465.1

Gene

CD40LG

Gene Name

CD40 ligand

There are no transcripts associated with this gene.

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