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TTGTTTGAGAAAACCCGAAAAGTTA[A/G]TGCTCACATTAAAGATGTGAAAGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603421 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MSANTD3-TMEFF1 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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MSANTD3-TMEFF1 - MSANTD3-TMEFF1 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198812.1 | 355 | Intron | NP_001185741.1 |
MURC - muscle related coiled-coil protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018116.2 | 355 | Missense Mutation | AAT,AGT | N,S 97 | NP_001018126.1 |
TMEFF1 - transmembrane protein with EGF like and two follistatin like domains 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003692.4 | 355 | Intron | NP_003683.2 |