Product Details

SNP ID

rs147804421

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:95566085 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGACACGTGGGACTTCCTTTCTG[A/T]ATGCCTACACAAACTCTCCAATTTG

Phenotype

MIM: 610011

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ARSK PubMed Links

Gene Details

Gene

ARSK

Gene Name

arylsulfatase family member K

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198150.2	372	Missense Mutation	AAT,TAT	N72Y	NP_937793.1
XM_005271904.3	372	UTR 5			XP_005271961.1

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