Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 607574 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARSA PubMed Links | |||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
||||||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
---|---|---|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | ||||||
EAS
|
African American - Not Available | YRI (Yoruba)
|
||||||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | ||||||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
|
||||||||
AMR
|
ARSA - arylsulfatase A | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000487.5 | 1594 | Missense Mutation | AAC,AGC | N,S 442 | NP_000478.3 | |
NM_001085425.2 | 1594 | Missense Mutation | AAC,AGC | N,S 442 | NP_001078894.2 | |
NM_001085426.2 | 1594 | Missense Mutation | AAC,AGC | N,S 442 | NP_001078895.2 | |
NM_001085427.2 | 1594 | Missense Mutation | AAC,AGC | N,S 442 | NP_001078896.2 | |
NM_001085428.2 | 1594 | Missense Mutation | AAC,AGC | N,S 356 | NP_001078897.1 | |
XM_011530690.2 | 1594 | Missense Mutation | AAC,AGC | N,S 356 | XP_011528992.1 | |
XM_011530691.2 | 1594 | UTR 3 | XP_011528993.1 | |||
XM_017028800.1 | 1594 | Missense Mutation | AAC,AGC | N,S 480 | XP_016884289.1 |
Set Membership: |
HapMap |