Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCCTTGGACAGGTCATAGAGCAGC[G/A]GGGGCTCATGAGCAGTCAGAGAGCT
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 |
---|---|---|
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 |
ARSA - arylsulfatase A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000487.5 | 1552 | Missense Mutation | CCG,CTG | P,L 428 | NP_000478.3 | |
NM_001085425.2 | 1552 | Missense Mutation | CCG,CTG | P,L 428 | NP_001078894.2 | |
NM_001085426.2 | 1552 | Missense Mutation | CCG,CTG | P,L 428 | NP_001078895.2 | |
NM_001085427.2 | 1552 | Missense Mutation | CCG,CTG | P,L 428 | NP_001078896.2 | |
NM_001085428.2 | 1552 | Missense Mutation | CCG,CTG | P,L 342 | NP_001078897.1 | |
XM_011530690.2 | 1552 | Missense Mutation | CCG,CTG | P,L 342 | XP_011528992.1 | |
XM_011530691.2 | 1552 | UTR 3 | XP_011528993.1 | |||
XM_017028800.1 | 1552 | Missense Mutation | CCG,CTG | P,L 466 | XP_016884289.1 |