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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