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TGTGGGAAAAGCAAGCGAGCAGCTG[G/T]CTGGCAAGGTGGCAGAAGTCAAGAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608313 MIM: 605042 | ||||||||||||||||||||
Literature Links: |
ARG1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
ARG1 - arginase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000045.3 | 365 | Missense Mutation | GCT,TCT | A,S 81 | NP_000036.2 | |
NM_001244438.1 | 365 | Missense Mutation | GCT,TCT | A,S 89 | NP_001231367.1 | |
XM_011535801.2 | 365 | Missense Mutation | GCT,TCT | A,S 81 | XP_011534103.1 |
MED23 - mediator complex subunit 23 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270521.1 | 365 | Intron | NP_001257450.1 | |||
NM_001270522.1 | 365 | Intron | NP_001257451.1 | |||
NM_004830.3 | 365 | Intron | NP_004821.2 | |||
NM_015979.3 | 365 | Intron | NP_057063.2 | |||
XM_005267223.2 | 365 | Intron | XP_005267280.1 | |||
XM_006715612.2 | 365 | Intron | XP_006715675.1 | |||
XM_011536257.2 | 365 | Intron | XP_011534559.1 | |||
XM_017011501.1 | 365 | Intron | XP_016866990.1 |