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TGGCGGCTGGAGGCGATCATGGTTC[G/T]CCCGACAGCTACCGCTCACCTCTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608222 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ADSL PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ADSL - adenylosuccinate lyase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000026.3 | 51 | Silent Mutation | TCG,TCT | S,S 9 | NP_000017.1 | |
NM_001123378.2 | 51 | Silent Mutation | TCG,TCT | S,S 9 | NP_001116850.1 | |
NM_001317923.1 | 51 | UTR 5 | NP_001304852.1 | |||
XM_011529977.2 | 51 | Silent Mutation | TCG,TCT | S,S 9 | XP_011528279.1 | |
XM_011529979.1 | 51 | Silent Mutation | TCG,TCT | S,S 9 | XP_011528281.1 | |
XM_011529980.2 | 51 | Silent Mutation | TCG,TCT | S,S 9 | XP_011528282.1 | |
XM_017028636.1 | 51 | Silent Mutation | TCG,TCT | S,S 9 | XP_016884125.1 | |
XM_017028637.1 | 51 | Silent Mutation | TCG,TCT | S,S 9 | XP_016884126.1 | |
XM_017028638.1 | 51 | UTR 5 | XP_016884127.1 | |||
XM_017028639.1 | 51 | UTR 5 | XP_016884128.1 | |||
XM_017028640.1 | 51 | Intron | XP_016884129.1 |