Search
LOADING 
- SNP ID:
- rs200433980
- Gene
-
LOC105372397MAP4K1RYR1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.19: 38597136 - 38597136 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
ACGGGCCCCCAGAGCTCGCACCCTC[C/T]GCTGTGGCATGGGCAAGGATGAGTC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 601983
MIM: 180901
|
||||||||||||||||||||
Literature Links: |
LOC105372397 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 |
| LOC105372397 - uncharacterized LOC105372397 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| MAP4K1 - mitogen-activated protein kinase kinase kinase kinase 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001042600.2 | 1979 | Silent Mutation | GCA,GCG | A,A 613 | NP_001036065.1 | |
| NM_007181.5 | 1979 | Silent Mutation | GCA,GCG | A,A 613 | NP_009112.1 | |
| XM_011526403.1 | 1979 | Silent Mutation | GCA,GCG | A,A 653 | XP_011524705.1 | |
| XM_011526404.1 | 1979 | Silent Mutation | GCA,GCG | A,A 653 | XP_011524706.1 | |
| XM_017026231.1 | 1979 | Silent Mutation | GCA,GCG | A,A 640 | XP_016881720.1 | |
| RYR1 - ryanodine receptor 1 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
Back To Top