Product Details

SNP ID
rs201497086
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:3669396 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAATATTTCAAATCACGGAGACCT[C/T]TCTTTACAGGAGGCCTCATCGGGGG
Phenotype
MIM: 606272 MIM: 602836 MIM: 616484
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CTNS PubMed Links

Gene Details

Gene
CTNS
Gene Name
cystinosin, lysosomal cystine transporter
There are no transcripts associated with this gene.

Gene
EMC6
Gene Name
ER membrane protein complex subunit 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001014764.2 476 Missense Mutation CTC,TTC L84F NP_001014764.1
NM_031298.3 476 Missense Mutation CTC,TTC L84F NP_112588.1
Gene
P2RX5
Gene Name
purinergic receptor P2X 5
There are no transcripts associated with this gene.

Gene
P2RX5-TAX1BP3
Gene Name
P2RX5-TAX1BP3 readthrough (NMD candidate)
There are no transcripts associated with this gene.

Gene
TAX1BP3
Gene Name
Tax1 binding protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204698.1 476 Intron NP_001191627.1
NM_014604.3 476 Intron NP_055419.1

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