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CAATAGCCTCTAAAAATATTACCCA[C/T]GGGCAGCAGTAGTTCGATCTGCGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 108370 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ASNS 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
|
ASNS - asparagine synthetase (glutamine-hydrolyzing) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001178075.1 | 1111 | Intron | NP_001171546.1 | |||
NM_001178076.1 | 1111 | Intron | NP_001171547.1 | |||
NM_001178077.1 | 1111 | Missense Mutation | CAT,CGT | H,R 329 | NP_001171548.1 | |
NM_001673.4 | 1111 | Intron | NP_001664.3 | |||
NM_133436.3 | 1111 | Missense Mutation | CAT,CGT | H,R 412 | NP_597680.2 | |
NM_183356.3 | 1111 | Intron | NP_899199.2 |