Product Details

SNP ID

rs200069949

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:988930 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGAACAGCTGCTCCTCCTCAGCC[A/G]TGTCCCCGGGGCCCTCCCCGAGGAA

Phenotype

MIM: 252800 MIM: 610130

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IDUA PubMed Links

Gene Details

Gene

IDUA

Gene Name

iduronidase, alpha-L-

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000203.4	2176	Intron			NP_000194.2
XM_011513461.2	2176	Intron			XP_011511763.1
XM_017008163.1	2176	Intron			XP_016863652.1

Gene

SLC26A1

Gene Name

solute carrier family 26 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022042.3	2176	Missense Mutation	ACG,ATG	T670M	NP_071325.2
NM_134425.2	2176	Intron			NP_602297.1
NM_213613.3	2176	Missense Mutation	ACG,ATG	T670M	NP_998778.1

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