Product Details

SNP ID

rs149648302

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:95555334 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTTGGCGCTGGCGGTACTGGCCC[C/T]CGGAGCAGGGGAGCAGAGGCGGAGA

Phenotype

MIM: 610011 MIM: 614589

Polymorphism

C/T, Transition 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	214	Missense Mutation	CCC,CTC	P19L	NP_937793.1
XM_005271904.3	214	UTR 5			XP_005271961.1

Gene

TTC37

Gene Name

tetratricopeptide repeat domain 37

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014639.3	214	Intron			NP_055454.1

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