Product Details

SNP ID

rs149326720

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:3664712 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTGTCTTCAGAGAAGGGATTCTG[C/G]GAAGGATCCTGGTCGATTCCACCTC

Phenotype

MIM: 606272 MIM: 602836 MIM: 616484

Polymorphism

C/G, Transversion 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

There are no transcripts associated with this gene.

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	279	Silent Mutation	TCC,TCG	S42S	NP_001191627.1
NM_014604.3	279	Silent Mutation	TCC,TCG	S42S	NP_055419.1

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