Search
LOADING 
- SNP ID:
- rs149837076
- Gene
-
AAMPMIR6513PNKDTMBIM1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.2: 218275490 - 218275490 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
GGCTTGCTCCTTAATTGCGATCCCC[C/T]ATCAGCTGCAGCACAAAGGTGAAGA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 603488
MIM: 609023
MIM: 610364
|
||||||||||||||||||||
Literature Links: |
AAMP PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
| AAMP - angio associated migratory cell protein | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| MIR6513 - microRNA 6513 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| PNKD - paroxysmal nonkinesigenic dyskinesia | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001077399.2 | 998 | Intron | NP_001070867.1 | |||
| NM_015488.4 | 998 | Intron | NP_056303.3 | |||
| NM_022572.4 | 998 | Intron | NP_072094.1 | |||
| XM_017003771.1 | 998 | Intron | XP_016859260.1 | |||
| XM_017003772.1 | 998 | Intron | XP_016859261.1 | |||
| TMBIM1 - transmembrane BAX inhibitor motif containing 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001321427.1 | 998 | Missense Mutation | ATA,ATG | I,M 307 | NP_001308356.1 | |
| NM_001321428.1 | 998 | Missense Mutation | ATA,ATG | I,M 307 | NP_001308357.1 | |
| NM_001321429.1 | 998 | Missense Mutation | ATA,ATG | I,M 307 | NP_001308358.1 | |
| NM_001321430.1 | 998 | Missense Mutation | ATA,ATG | I,M 307 | NP_001308359.1 | |
| NM_001321432.1 | 998 | Missense Mutation | ATA,ATG | I,M 307 | NP_001308361.1 | |
| NM_001321433.1 | 998 | Missense Mutation | ATA,ATG | I,M 307 | NP_001308362.1 | |
| NM_001321435.1 | 998 | Missense Mutation | ATA,ATG | I,M 307 | NP_001308364.1 | |
| NM_001321436.1 | 998 | Missense Mutation | ATA,ATG | I,M 307 | NP_001308365.1 | |
| NM_001321438.1 | 998 | Missense Mutation | ATA,ATG | I,M 196 | NP_001308367.1 | |
| NM_022152.5 | 998 | Missense Mutation | ATA,ATG | I,M 307 | NP_071435.2 | |
| XM_011511627.1 | 998 | Missense Mutation | ATA,ATG | I,M 307 | XP_011509929.1 | |
Back To Top