Product Details

SNP ID
rs190643827
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:78780497 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGTGTTTATGGTAGAACTGTAGG[C/T]GGGACAGGAGCTTTGTGACGATGTG
Phenotype
MIM: 611542
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ARSB PubMed Links

Gene Details

Gene
ARSB
Gene Name
arylsulfatase B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000046.3 2001 Missense Mutation CAC,CGC H501R NP_000037.2
NM_198709.2 2001 Intron NP_942002.1
XM_011543390.1 2001 Missense Mutation CAC,CGC H501R XP_011541692.1
XM_011543391.2 2001 Intron XP_011541693.1
XM_011543392.2 2001 Intron XP_011541694.1
XM_011543393.1 2001 Intron XP_011541695.1
XM_017009471.1 2001 Intron XP_016864960.1

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