Product Details

SNP ID

rs7290199

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:50623355 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTGGGTGGAGGCCTCAAGGGCAA[A/T]CTGGGTCACTGTAAGGGGTTTGGAT

Phenotype

MIM: 607574 MIM: 607755

Polymorphism

A/T, 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	3561	UTR 3			NP_000478.3
NM_001085425.2	3561	UTR 3			NP_001078894.2
NM_001085426.2	3561	UTR 3			NP_001078895.2
NM_001085427.2	3561	UTR 3			NP_001078896.2
NM_001085428.2	3561	UTR 3			NP_001078897.1
XM_011530690.2	3561	Intron			XP_011528992.1
XM_011530691.2	3561	Intron			XP_011528993.1
XM_017028800.1	3561	Intron			XP_016884289.1

Gene

MAPK8IP2

Gene Name

mitogen-activated protein kinase 8 interacting protein 2

There are no transcripts associated with this gene.

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