Product Details

SNP ID

rs139242532

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:3010098 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCCAGCATCTCGCAGCTGCTTCCA[C/T]GTGCACCCCAAGTCGGGCTGCCTTC

Phenotype

MIM: 300586

Polymorphism

C/T, 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	161	Missense Mutation	ACG,ATG	T54M	NP_001011719.1

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