Product Details
- SNP ID
-
rs140785040
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
2
- Location
-
Chr.1:41016162 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCGTGCTGCTGCAGCTGCTGCTGGA[A/G]CTGCTCCTTCTCCATCATCAGCGCC
- Phenotype
-
MIM: 123860
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CTPS1
PubMed Links
Gene Details
- Gene
- CTPS1
- Gene Name
- CTP synthase 1
There are no transcripts associated with this gene.
- Gene
- SLFNL1
- Gene Name
- schlafen like 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001168247.2 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
NP_001161719.1 |
NM_001300859.1 |
1481 |
Missense Mutation |
CTC,TTC |
L331F |
NP_001287788.1 |
NM_144990.3 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
NP_659427.3 |
XM_005270597.2 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_005270654.1 |
XM_005270598.2 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_005270655.1 |
XM_005270599.2 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_005270656.1 |
XM_006710432.3 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_006710495.1 |
XM_011540943.1 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_011539245.1 |
XM_011540945.1 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_011539247.1 |
XM_011540947.1 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_011539249.1 |
XM_011540948.1 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_011539250.1 |
XM_011540949.1 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_011539251.1 |
XM_011540950.1 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_011539252.1 |
XM_011540951.1 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_011539253.1 |
XM_011540952.2 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_011539254.1 |
XM_011540953.2 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_011539255.1 |
XM_011540954.1 |
1481 |
Missense Mutation |
CTC,TTC |
L390F |
XP_011539256.1 |
XM_017000573.1 |
1481 |
Missense Mutation |
CTC,TTC |
L342F |
XP_016856062.1 |
XM_017000574.1 |
1481 |
Missense Mutation |
CTC,TTC |
L330F |
XP_016856063.1 |
- Gene
- SLFNL1-AS1
- Gene Name
- SLFNL1 antisense RNA 1
There are no transcripts associated with this gene.
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