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- SNP ID:
- rs201909094
- Gene
-
ABI2RAPH1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.2: 203439523 - 203439523 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CTCCGCAACGTTGCATAGCCTGATA[C/T]ATGACTGCCTCCGTAACCAGCCTTC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 606442
MIM: 609035
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Literature Links: |
ABI2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
| ABI2 - abl-interactor 2 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| RAPH1 - Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_203365.3 | 3748 | Intron | NP_976241.1 | |||
| NM_213589.2 | 3748 | Missense Mutation | ATA,GTA | I,V 1223 | NP_998754.1 | |
| XM_005246777.3 | 3748 | Missense Mutation | ATA,GTA | I,V 1275 | XP_005246834.1 | |
| XM_005246779.4 | 3748 | Missense Mutation | ATA,GTA | I,V 1275 | XP_005246836.1 | |
| XM_006712695.3 | 3748 | Missense Mutation | ATA,GTA | I,V 1275 | XP_006712758.1 | |
| XM_011511646.2 | 3748 | Missense Mutation | ATA,GTA | I,V 1275 | XP_011509948.1 | |
| XM_011511647.1 | 3748 | Missense Mutation | ATA,GTA | I,V 1250 | XP_011509949.1 | |
| XM_011511648.1 | 3748 | Missense Mutation | ATA,GTA | I,V 1248 | XP_011509950.1 | |
| XM_011511649.2 | 3748 | Intron | XP_011509951.1 | |||
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