Product Details

SNP ID
rs144205542
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:136669525 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCGTCCTTCAAGGCGTAAACAGTA[G/T]CAACAAGGCTCCTAGAAAATAAAGA
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 3014 Missense Mutation GAT,GCT D562A NP_001293106.1
NM_004840.2 3014 Missense Mutation GAT,GCT D716A NP_004831.1
XM_005262499.2 3014 Missense Mutation GAT,GCT D667A XP_005262556.1
XM_011531412.2 3014 Missense Mutation GAT,GCT D743A XP_011529714.1
XM_011531413.1 3014 Missense Mutation GAT,GCT D720A XP_011529715.1
XM_011531414.1 3014 Missense Mutation GAT,GCT D713A XP_011529716.1
XM_011531415.2 3014 Missense Mutation GAT,GCT D686A XP_011529717.1
XM_011531416.2 3014 Missense Mutation GAT,GCT D589A XP_011529718.1
XM_011531417.1 3014 Missense Mutation GAT,GCT D566A XP_011529719.1
XM_017029975.1 3014 Missense Mutation GAT,GCT D747A XP_016885464.1
XM_017029976.1 3014 Missense Mutation GAT,GCT D513A XP_016885465.1
Gene
CD40LG
Gene Name
CD40 ligand
There are no transcripts associated with this gene.

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