Product Details

SNP ID
rs141719618
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:3010051 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGCACACCTAATATTGACCGCCT[A/G]GCAAGTGAAGGAGTGAGGCTTACCC
Phenotype
MIM: 300586
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ARSH PubMed Links

Gene Details

Gene
ARSH
Gene Name
arylsulfatase family member H
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001011719.1 114 Silent Mutation CTA,CTG L38L NP_001011719.1

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