Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGCAGATCTGCAGGGCGGGGTCCT[C/T]GCCCCGGGCCACCTGGCTGGGGCCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607574 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARSA 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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ARSA - arylsulfatase A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000487.5 | 1716 | Missense Mutation | NP_000478.3 | |||
NM_001085425.2 | 1716 | Missense Mutation | NP_001078894.2 | |||
NM_001085426.2 | 1716 | Missense Mutation | NP_001078895.2 | |||
NM_001085427.2 | 1716 | Missense Mutation | NP_001078896.2 | |||
NM_001085428.2 | 1716 | Missense Mutation | NP_001078897.1 | |||
XM_011530690.2 | 1716 | Nonsense Mutation | XP_011528992.1 | |||
XM_011530691.2 | 1716 | UTR 3 | XP_011528993.1 | |||
XM_017028800.1 | 1716 | Nonsense Mutation | XP_016884289.1 |