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AAGTAAAATGCTATCTGAATATCTC[C/T]GGGGACACACACGAGTCCATGTGAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612768 | ||||||||||||||||||||
Literature Links: |
C4orf45 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
C4orf45 - chromosome 4 open reading frame 45 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152543.2 | 3438 | Intron | NP_689756.2 | |||
XM_011531671.2 | 3438 | Intron | XP_011529973.1 | |||
XM_011531672.2 | 3438 | Intron | XP_011529974.1 | |||
XM_017007808.1 | 3438 | Intron | XP_016863297.1 | |||
XM_017007809.1 | 3438 | Intron | XP_016863298.1 | |||
XM_017007810.1 | 3438 | Intron | XP_016863299.1 |
FNIP2 - folliculin interacting protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001323916.1 | 3438 | Silent Mutation | CGG,TGG | R,W 1097 | NP_001310845.1 | |
NM_020840.2 | 3438 | Silent Mutation | CGG,TGG | R,W 1074 | NP_065891.1 | |
XM_005263156.1 | 3438 | Silent Mutation | CGG,TGG | R,W 1127 | XP_005263213.1 | |
XM_005263158.1 | 3438 | Silent Mutation | CGG,TGG | R,W 1104 | XP_005263215.1 | |
XM_005263160.3 | 3438 | Intron | XP_005263217.1 | |||
XM_011532154.2 | 3438 | Silent Mutation | CGG,TGG | R,W 1072 | XP_011530456.1 | |
XM_017008487.1 | 3438 | Silent Mutation | CGG,TGG | R,W 1110 | XP_016863976.1 |