Product Details

SNP ID

rs146851620

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:3010142 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTTCCTGACCGGCCGGTACCCC[A/G]TCAGATCAGGTGAGGCAATAAAAAG

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	205	Missense Mutation	ATC,GTC	I69V	NP_001011719.1

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