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AGTAATTTGCACAGGAGTGAATGTC[A/G]GGATCTAAAGCCAGAATATATGTTA
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
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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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 | 2927 | UTR 3 | NP_001002796.1 | |||
NM_001297777.1 | 2927 | UTR 3 | NP_001284706.1 | |||
NM_024717.5 | 2927 | UTR 3 | NP_078993.4 | |||
XM_005272082.4 | 2927 | UTR 3 | XP_005272139.1 | |||
XM_005272090.4 | 2927 | UTR 3 | XP_005272147.1 | |||
XM_006714692.3 | 2927 | UTR 3 | XP_006714755.1 | |||
XM_011543649.2 | 2927 | UTR 3 | XP_011541951.1 | |||
XM_011543650.2 | 2927 | UTR 3 | XP_011541952.1 | |||
XM_017009855.1 | 2927 | UTR 3 | XP_016865344.1 | |||
XM_017009856.1 | 2927 | Intron | XP_016865345.1 | |||
XM_017009857.1 | 2927 | UTR 3 | XP_016865346.1 | |||
XM_017009858.1 | 2927 | UTR 3 | XP_016865347.1 | |||
XM_017009859.1 | 2927 | UTR 3 | XP_016865348.1 | |||
XM_017009860.1 | 2927 | UTR 3 | XP_016865349.1 | |||
XM_017009861.1 | 2927 | UTR 3 | XP_016865350.1 | |||
XM_017009862.1 | 2927 | UTR 3 | XP_016865351.1 | |||
XM_017009863.1 | 2927 | UTR 3 | XP_016865352.1 | |||
XM_017009864.1 | 2927 | UTR 3 | XP_016865353.1 | |||
XM_017009865.1 | 2927 | 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 | 2927 | Intron | NP_115666.2 |