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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