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GTTTACGACATGATGTGATGGCTCA[C/T]GTGCACACATTTGGCCACTGCTGTC
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 |
---|---|---|
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 |
ADSL - adenylosuccinate lyase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000026.3 | 297 | Silent Mutation | CAC,CAT | H,H 91 | NP_000017.1 | |
NM_001123378.2 | 297 | Silent Mutation | CAC,CAT | H,H 91 | NP_001116850.1 | |
NM_001317923.1 | 297 | Silent Mutation | CAC,CAT | H,H 27 | NP_001304852.1 | |
XM_011529977.2 | 297 | Silent Mutation | CAC,CAT | H,H 91 | XP_011528279.1 | |
XM_011529979.1 | 297 | Silent Mutation | CAC,CAT | H,H 91 | XP_011528281.1 | |
XM_011529980.2 | 297 | Silent Mutation | CAC,CAT | H,H 91 | XP_011528282.1 | |
XM_017028636.1 | 297 | Silent Mutation | CAC,CAT | H,H 91 | XP_016884125.1 | |
XM_017028637.1 | 297 | Silent Mutation | CAC,CAT | H,H 91 | XP_016884126.1 | |
XM_017028638.1 | 297 | UTR 5 | XP_016884127.1 | |||
XM_017028639.1 | 297 | UTR 5 | XP_016884128.1 | |||
XM_017028640.1 | 297 | Intron | XP_016884129.1 |