Product Details

SNP ID

rs201693608

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:50625378 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGTTCTCACCAGGGTCCTTGGACA[C/G]GTCATAGAGCAGCGGGGGCTCATGA

Phenotype

MIM: 607574

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ARSA PubMed Links

Gene Details

Gene

ARSA

Gene Name

arylsulfatase A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000487.5	1566	Missense Mutation	CTG,GTG	L433V	NP_000478.3
NM_001085425.2	1566	Missense Mutation	CTG,GTG	L433V	NP_001078894.2
NM_001085426.2	1566	Missense Mutation	CTG,GTG	L433V	NP_001078895.2
NM_001085427.2	1566	Missense Mutation	CTG,GTG	L433V	NP_001078896.2
NM_001085428.2	1566	Missense Mutation	CTG,GTG	L347V	NP_001078897.1
XM_011530690.2	1566	Missense Mutation	CTG,GTG	L347V	XP_011528992.1
XM_011530691.2	1566	UTR 3			XP_011528993.1
XM_017028800.1	1566	Missense Mutation	CTG,GTG	L471V	XP_016884289.1

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