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CCGCCAGACGCTATGTCCAGCAAAG[C/G]CTCCGTGGTTCTGGCCTACAGTGGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603470 | ||||||||||||||||||||
Literature Links: |
ASS1 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 |
ASS1 - argininosuccinate synthase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000050.4 | 370 | Missense Mutation | GCC,GGC | A,G 5 | NP_000041.2 | |
NM_054012.3 | 370 | Missense Mutation | GCC,GGC | A,G 5 | NP_446464.1 | |
XM_005272200.3 | 370 | Intron | XP_005272257.1 | |||
XM_011518705.2 | 370 | Intron | XP_011517007.1 | |||
XM_017014729.1 | 370 | Intron | XP_016870218.1 |