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- SNP ID:
- rs34447885
- Gene
-
SLC22A1 - Gene Name
- Set Membership:
- > DME > Validated > Inventoried
- Chromosome Location:
- Chr.6: 160121976 - 160121976 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
GACATTCTGGAGCAGGTTGGGGAGT[C/T]TGGCTGGTTCCAGAAGCAAGCCTTC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602607
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Literature Links: |
SLC22A1 PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | ||||||
|---|---|---|---|---|---|---|---|---|
Global
|
Caucasian
|
CEPH (CEU) - Not Available | ||||||
EAS
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African American
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YRI (Yoruba) - Not Available | ||||||
SAS
|
Japanese
|
CHB (Han Chinese) - Not Available | ||||||
AFR
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Chinese
|
JPT (Japanese) - Not Available | ||||||
EUR
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AMR
|
| SLC22A1 - solute carrier family 22 member 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_003057.2 | 188 | Missense Mutation | TCT,TTT | S,F 14 | NP_003048.1 | |
| NM_153187.1 | 188 | Missense Mutation | TCT,TTT | S,F 14 | NP_694857.1 | |
| XM_005267102.4 | 188 | Missense Mutation | TCT,TTT | S,F 14 | XP_005267159.1 | |
| XM_005267103.1 | 188 | Missense Mutation | TCT,TTT | S,F 14 | XP_005267160.1 | |
| XM_005267104.4 | 188 | Intron | XP_005267161.1 | |||
| XM_005267105.4 | 188 | Intron | XP_005267162.1 | |||
| XM_006715552.1 | 188 | Missense Mutation | TCT,TTT | S,F 14 | XP_006715615.1 | |
| XM_011536074.2 | 188 | Intron | XP_011534376.1 | |||
Back To TopMore Information
Set Membership: |
DME
Validated
Inventoried
|
Panther Classification:
Gene Ontology Categories:
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