Product Details

SNP ID

hCV27862748

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:987828 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCAGCCCCCCGCTGCCACACAGC[C/T]AGGCTGACCAGTACGTCCTCAGCTG

Phenotype

MIM: 252800 MIM: 610130

Polymorphism

C/T, 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	266	Nonsense Mutation	CAG,TAG	Q60*	NP_000194.2

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	266	UTR 3			NP_071325.2
NM_134425.2	266	Intron			NP_602297.1
NM_213613.3	266	UTR 3			NP_998778.1

View Full Product Details