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- SNP ID:
- rs80231701
- Gene
-
ENPP1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.6: 131879896 - 131879896 on Build GRCh38
- Polymorphism:
- A/T, Transversion substitution
- Context Sequence [VIC/FAM]:
TGACCCAAGAGAAGATTATTAAGCA[A/T]GAAACTTTACCCTATGGAAGACCTA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 173335
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Literature Links: |
ENPP1 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
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AMR
|
| ENPP1 - ectonucleotide pyrophosphatase/phosphodiesterase 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_006208.2 | 911 | Missense Mutation | CAA,CAT | Q,H 654 | NP_006199.2 | |
| XM_011535896.1 | 911 | Missense Mutation | CAA,CAT | Q,H 284 | XP_011534198.1 | |
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