Product Details

SNP ID

rs201085386

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.22:50625188 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAATGGCAGCAAGCTGGGCGGGGG[A/G]TGCAGCCAGGATGACAGCAGATCTG

Phenotype

MIM: 607574

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ARSA PubMed Links

Additional Information

For this assay, SNP(s) [rs6151428] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ARSA

Gene Name

arylsulfatase A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000487.5	1756	Missense Mutation	ACC,ATC	T496I	NP_000478.3
NM_001085425.2	1756	Missense Mutation	ACC,ATC	T496I	NP_001078894.2
NM_001085426.2	1756	Missense Mutation	ACC,ATC	T496I	NP_001078895.2
NM_001085427.2	1756	Missense Mutation	ACC,ATC	T496I	NP_001078896.2
NM_001085428.2	1756	Missense Mutation	ACC,ATC	T410I	NP_001078897.1
XM_011530690.2	1756	Missense Mutation	ACC,ATC	T410I	XP_011528992.1
XM_011530691.2	1756	UTR 3			XP_011528993.1
XM_017028800.1	1756	Missense Mutation	ACC,ATC	T534I	XP_016884289.1

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