Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 606272 MIM: 605060 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
CTNS PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Global
|
Caucasian
|
CEPH (CEU)
|
|||||||||
EAS
|
African American
|
YRI (Yoruba)
|
|||||||||
SAS
|
Japanese
|
JPT (Japanese)
|
|||||||||
AFR
|
Chinese
|
CHB (Han Chinese)
|
|||||||||
EUR
|
|||||||||||
AMR
|
CTNS - cystinosin, lysosomal cystine transporter | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | 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 |
SHPK - sedoheptulokinase | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
Set Membership: |
HapMap Validated |