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GCTGGGCGGCCTAACAGCTCCCACC[C/G]ACAGGTGCCTGCGCGCTCCTCGACC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608417 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C17orf50 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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C17orf50 - chromosome 17 open reading frame 50 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_145272.3 | 373 | Missense Mutation | CAC,GAC | H,D 110 | NP_660315.2 |
MMP28 - matrix metallopeptidase 28 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001032278.2 | 373 | Intron | NP_001027449.1 | |||
NM_024302.4 | 373 | Intron | NP_077278.1 | |||
NM_032950.3 | 373 | Intron | NP_116568.1 | |||
XM_011525225.1 | 373 | Intron | XP_011523527.1 | |||
XM_011525226.2 | 373 | Intron | XP_011523528.1 | |||
XM_011525227.1 | 373 | Intron | XP_011523529.1 | |||
XM_011525228.1 | 373 | Intron | XP_011523530.1 | |||
XM_011525229.2 | 373 | Intron | XP_011523531.1 | |||
XM_011525230.1 | 373 | Intron | XP_011523532.1 | |||
XM_011525231.1 | 373 | Intron | XP_011523533.1 | |||
XM_011525232.2 | 373 | Intron | XP_011523534.2 | |||
XM_017025061.1 | 373 | Intron | XP_016880550.1 | |||
XM_017025062.1 | 373 | Intron | XP_016880551.1 | |||
XM_017025063.1 | 373 | Intron | XP_016880552.1 | |||
XM_017025064.1 | 373 | Intron | XP_016880553.1 |