Product Details

SNP ID
rs466242
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:3641001 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAACACTGGGGAAGCAGAAGAGGT[A/G]GCCACCCTGTTGTACCCGGTTCTGC
Phenotype
MIM: 606272 MIM: 605060
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CTNS PubMed Links

Gene Details

Gene
CTNS
Gene Name
cystinosin, lysosomal cystine transporter
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031681.2 Intron NP_001026851.2
NM_004937.2 Intron NP_004928.2
XM_005256485.2 Intron XP_005256542.1
XM_006721463.2 Intron XP_006721526.1
XM_006721464.2 Intron XP_006721527.1
XM_011523691.2 Intron XP_011521993.1
XM_011523692.2 Intron XP_011521994.1
XM_017024254.1 Intron XP_016879743.1
XM_017024255.1 Intron XP_016879744.1
XM_017024256.1 Intron XP_016879745.1
XM_017024257.1 Intron XP_016879746.1
XM_017024258.1 Intron XP_016879747.1
Gene
SHPK
Gene Name
sedoheptulokinase
There are no transcripts associated with this gene.

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