Product Details
- SNP ID
-
rs200109024
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:45396700 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTAGCCCTTCTCCCGCAGCGACTGC[A/G]GTGTGGGCCGCCTCTGGAGGAACTT
- Phenotype
-
MIM: 610591
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ARHGAP27
PubMed Links
Gene Details
- Gene
- ARHGAP27
- Gene Name
- Rho GTPase activating protein 27
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001282290.1 |
2442 |
Missense Mutation |
CCG,CTG |
P681L |
NP_001269219.1 |
NM_174919.3 |
2442 |
Intron |
|
|
NP_777579.2 |
NM_199282.2 |
2442 |
Missense Mutation |
CCG,CTG |
P340L |
NP_954976.1 |
XM_005257128.3 |
2442 |
Missense Mutation |
CCG,CTG |
P459L |
XP_005257185.1 |
XM_006721745.2 |
2442 |
Missense Mutation |
CCG,CTG |
P681L |
XP_006721808.1 |
XM_006721747.2 |
2442 |
Missense Mutation |
CCG,CTG |
P659L |
XP_006721810.1 |
XM_006721750.3 |
2442 |
Intron |
|
|
XP_006721813.1 |
XM_011524468.1 |
2442 |
Missense Mutation |
CCG,CTG |
P714L |
XP_011522770.1 |
XM_011524469.1 |
2442 |
Missense Mutation |
CCG,CTG |
P692L |
XP_011522771.1 |
XM_011524470.2 |
2442 |
Missense Mutation |
CCG,CTG |
P714L |
XP_011522772.1 |
XM_011524471.1 |
2442 |
Missense Mutation |
CCG,CTG |
P657L |
XP_011522773.1 |
XM_011524472.2 |
2442 |
Missense Mutation |
CCG,CTG |
P514L |
XP_011522774.1 |
XM_011524473.2 |
2442 |
Intron |
|
|
XP_011522775.1 |
XM_011524474.1 |
2442 |
Missense Mutation |
CCG,CTG |
P373L |
XP_011522776.1 |
XM_017024311.1 |
2442 |
Missense Mutation |
CCG,CTG |
P714L |
XP_016879800.1 |
XM_017024312.1 |
2442 |
Missense Mutation |
CCG,CTG |
P481L |
XP_016879801.1 |
XM_017024313.1 |
2442 |
Intron |
|
|
XP_016879802.1 |
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