Product Details

SNP ID

rs1064463

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:149481068 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGGTAAAGAACTGTGGAGCAGGC[A/G]ATAAAGCCAAATGCACTGAACTATG

Phenotype

MIM: 300823

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IDS PubMed Links

Gene Details

Gene

IDS

Gene Name

iduronate 2-sulfatase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000202.7	3504	UTR 3			NP_000193.1
NM_001166550.3	3504	UTR 3			NP_001160022.1
NM_006123.4	3504	Intron			NP_006114.1

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