Product Details
- SNP ID
-
rs143384257
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:94707524 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCCAAGATTGTTTTTCTTTCTTTTA[C/T]ATGGGCTATGAGAAGGATCTGGTTT
- Phenotype
-
MIM: 616296
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MCTP1
PubMed Links
Gene Details
- Gene
- MCTP1
- Gene Name
- multiple C2 and transmembrane domain containing 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001002796.3 |
2373 |
Missense Mutation |
TAT,TGT |
Y770C |
NP_001002796.1 |
NM_001297777.1 |
2373 |
Missense Mutation |
TAT,TGT |
Y684C |
NP_001284706.1 |
NM_024717.5 |
2373 |
Missense Mutation |
TAT,TGT |
Y991C |
NP_078993.4 |
XM_005272082.4 |
2373 |
Missense Mutation |
TAT,TGT |
Y785C |
XP_005272139.1 |
XM_005272090.4 |
2373 |
Missense Mutation |
TAT,TGT |
Y724C |
XP_005272147.1 |
XM_006714692.3 |
2373 |
Missense Mutation |
TAT,TGT |
Y726C |
XP_006714755.1 |
XM_011543649.2 |
2373 |
Missense Mutation |
TAT,TGT |
Y732C |
XP_011541951.1 |
XM_011543650.2 |
2373 |
Missense Mutation |
TAT,TGT |
Y652C |
XP_011541952.1 |
XM_017009855.1 |
2373 |
Missense Mutation |
TAT,TGT |
Y719C |
XP_016865344.1 |
XM_017009856.1 |
2373 |
Intron |
|
|
XP_016865345.1 |
XM_017009857.1 |
2373 |
Missense Mutation |
TAT,TGT |
Y706C |
XP_016865346.1 |
XM_017009858.1 |
2373 |
Missense Mutation |
TAT,TGT |
Y693C |
XP_016865347.1 |
XM_017009859.1 |
2373 |
Missense Mutation |
TAT,TGT |
Y692C |
XP_016865348.1 |
XM_017009860.1 |
2373 |
Missense Mutation |
TAT,TGT |
Y744C |
XP_016865349.1 |
XM_017009861.1 |
2373 |
Missense Mutation |
TAT,TGT |
Y686C |
XP_016865350.1 |
XM_017009862.1 |
2373 |
Missense Mutation |
TAT,TGT |
Y673C |
XP_016865351.1 |
XM_017009863.1 |
2373 |
Missense Mutation |
TAT,TGT |
Y711C |
XP_016865352.1 |
XM_017009864.1 |
2373 |
Missense Mutation |
TAT,TGT |
Y686C |
XP_016865353.1 |
XM_017009865.1 |
2373 |
Intron |
|
|
XP_016865354.1 |
- Gene
- SLF1
- Gene Name
- SMC5-SMC6 complex localization factor 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_032290.3 |
2373 |
Intron |
|
|
NP_115666.2 |
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