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GGCCCTGGTGAGCCCCTACCACACC[C/T]ACCGGGCCGGGGACCCCTTAGACCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 610339 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C1orf50 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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C1orf50 - chromosome 1 open reading frame 50 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024097.3 | 209 | Missense Mutation | CAC,TAC | H,Y 48 | NP_077002.2 |
LOC105378683 - uncharacterized LOC105378683 | ||||||
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There are no transcripts associated with this gene. |
P3H1 - prolyl 3-hydroxylase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001146289.1 | 209 | Intron | NP_001139761.1 | |||
NM_001243246.1 | 209 | Intron | NP_001230175.1 | |||
NM_022356.3 | 209 | Intron | NP_071751.3 | |||
XM_005271110.2 | 209 | Intron | XP_005271167.1 | |||
XM_011541948.1 | 209 | Intron | XP_011540250.1 | |||
XM_017002051.1 | 209 | Intron | XP_016857540.1 | |||
XM_017002052.1 | 209 | Intron | XP_016857541.1 |