Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616296 | ||||||||||||||||||||||||||||||||
Literature Links: |
MCTP1 PubMed Links | ||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
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Global - Not Available | Caucasian
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CEPH (CEU)
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EAS - Not Available | African American
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YRI (Yoruba) - Not Available | ||||||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese)
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AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR - Not Available | ||||||||
AMR - Not Available |
MCTP1 - multiple C2 and transmembrane domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002796.3 | 2429 | Intron | NP_001002796.1 | |||
NM_001297777.1 | 2429 | Intron | NP_001284706.1 | |||
NM_024717.5 | 2429 | Intron | NP_078993.4 | |||
XM_005272082.4 | 2429 | Intron | XP_005272139.1 | |||
XM_005272090.4 | 2429 | Intron | XP_005272147.1 | |||
XM_006714692.3 | 2429 | Intron | XP_006714755.1 | |||
XM_011543649.2 | 2429 | Intron | XP_011541951.1 | |||
XM_011543650.2 | 2429 | Intron | XP_011541952.1 | |||
XM_017009855.1 | 2429 | Intron | XP_016865344.1 | |||
XM_017009856.1 | 2429 | Missense Mutation | CTG,GTG | L,V 756 | XP_016865345.1 | |
XM_017009857.1 | 2429 | Intron | XP_016865346.1 | |||
XM_017009858.1 | 2429 | Intron | XP_016865347.1 | |||
XM_017009859.1 | 2429 | Intron | XP_016865348.1 | |||
XM_017009860.1 | 2429 | Intron | XP_016865349.1 | |||
XM_017009861.1 | 2429 | Intron | XP_016865350.1 | |||
XM_017009862.1 | 2429 | Intron | XP_016865351.1 | |||
XM_017009863.1 | 2429 | Intron | XP_016865352.1 | |||
XM_017009864.1 | 2429 | Intron | XP_016865353.1 | |||
XM_017009865.1 | 2429 | Intron | XP_016865354.1 |
SLF1 - SMC5-SMC6 complex localization factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032290.3 | 2429 | Intron | NP_115666.2 |