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- SNP ID:
- rs35269064
- Gene
-
ASS1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.9: 130458549 - 130458549 on Build GRCh38
- Polymorphism:
- G/T, Transversion substitution
- Context Sequence [VIC/FAM]:
CGCAAACAAGTGGAAATCGCCCAGC[G/T]GGAGGGGGCCAAGTATGTGTCCCAC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603470
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Literature Links: |
ASS1 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
|
| ASS1 - argininosuccinate synthase 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000050.4 | 679 | Missense Mutation | CGG,CTG | R,L 108 | NP_000041.2 | |
| NM_054012.3 | 679 | Missense Mutation | CGG,CTG | R,L 108 | NP_446464.1 | |
| XM_005272200.3 | 679 | Intron | XP_005272257.1 | |||
| XM_011518705.2 | 679 | Intron | XP_011517007.1 | |||
| XM_017014729.1 | 679 | Intron | XP_016870218.1 | |||
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