Product Details

SNP ID

hCV2318800

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:78780437 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACACCCCAGTGGCCTTGGGATCA[C/T]AGCGGGGGTCCTGTGCAGGGAAGTA

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_198709.2		Intron			NP_942002.1

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