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ATCACCTTCGCGCTCCTCTTCGGCC[A/G]CCGATTTGACTACCGGGACCCCGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610429 MIM: 615967 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C7orf50 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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C7orf50 - chromosome 7 open reading frame 50 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134395.1 | 570 | Intron | NP_001127867.1 | |||
NM_001134396.1 | 570 | Intron | NP_001127868.1 | |||
NM_001318252.1 | 570 | Intron | NP_001305181.1 | |||
NM_032350.5 | 570 | Intron | NP_115726.1 | |||
XM_006715793.2 | 570 | Intron | XP_006715856.1 | |||
XM_011515580.2 | 570 | Intron | XP_011513882.1 | |||
XM_011515581.2 | 570 | Intron | XP_011513883.1 | |||
XM_011515582.2 | 570 | Intron | XP_011513884.1 | |||
XM_011515583.2 | 570 | Intron | XP_011513885.1 | |||
XM_011515584.2 | 570 | Intron | XP_011513886.1 | |||
XM_017012719.1 | 570 | Intron | XP_016868208.1 | |||
XM_017012720.1 | 570 | Intron | XP_016868209.1 | |||
XM_017012721.1 | 570 | Intron | XP_016868210.1 | |||
XM_017012722.1 | 570 | Intron | XP_016868211.1 |
COX19 - COX19, cytochrome c oxidase assembly factor | ||||||
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There are no transcripts associated with this gene. |
CYP2W1 - cytochrome P450 family 2 subfamily W member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017781.2 | 570 | Missense Mutation | CAC,CGC | H,R 186 | NP_060251.2 | |
XM_011515440.2 | 570 | Missense Mutation | CAC,CGC | H,R 186 | XP_011513742.1 | |
XM_011515441.2 | 570 | Missense Mutation | CAC,CGC | H,R 186 | XP_011513743.1 |