Product Details

SNP ID
rs763065602
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:50625278 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGTCACAGCTGCGTCTAACTGG[A/G]CCTTGAGCAGCTGAAGCTGTTTCAG
Phenotype
MIM: 607574
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ARSA PubMed Links

Gene Details

Gene
ARSA
Gene Name
arylsulfatase A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000487.5 1666 Missense Mutation GCC,GTC A466V NP_000478.3
NM_001085425.2 1666 Missense Mutation GCC,GTC A466V NP_001078894.2
NM_001085426.2 1666 Missense Mutation GCC,GTC A466V NP_001078895.2
NM_001085427.2 1666 Missense Mutation GCC,GTC A466V NP_001078896.2
NM_001085428.2 1666 Missense Mutation GCC,GTC A380V NP_001078897.1
XM_011530690.2 1666 Missense Mutation GCC,GTC A380V XP_011528992.1
XM_011530691.2 1666 UTR 3 XP_011528993.1
XM_017028800.1 1666 Missense Mutation GCC,GTC A504V XP_016884289.1

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