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TCCAGCCCTAGTGAATAGATAATGC[C/T]TTGAACTATTCCTATCACCACAGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603028 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RNF175 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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RNF175 - ring finger protein 175 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173662.2 | 1415 | Missense Mutation | AGC,GGC | S,G 320 | NP_775933.1 | |
XM_005262938.3 | 1415 | Missense Mutation | AGC,GGC | S,G 286 | XP_005262995.1 | |
XM_005262939.3 | 1415 | Missense Mutation | AGC,GGC | S,G 240 | XP_005262996.1 | |
XM_005262940.4 | 1415 | Missense Mutation | AGC,GGC | S,G 239 | XP_005262997.1 | |
XM_011531879.2 | 1415 | Missense Mutation | AGC,GGC | S,G 288 | XP_011530181.1 | |
XM_011531881.2 | 1415 | Missense Mutation | AGC,GGC | S,G 280 | XP_011530183.1 | |
XM_011531882.2 | 1415 | Intron | XP_011530184.1 | |||
XM_011531883.2 | 1415 | Missense Mutation | AGC,GGC | S,G 248 | XP_011530185.1 | |
XM_017008047.1 | 1415 | Missense Mutation | AGC,GGC | S,G 221 | XP_016863536.1 |
TLR2 - toll like receptor 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318787.1 | 1415 | Intron | NP_001305716.1 | |||
NM_001318789.1 | 1415 | Intron | NP_001305718.1 | |||
NM_001318790.1 | 1415 | Intron | NP_001305719.1 | |||
NM_001318791.1 | 1415 | Intron | NP_001305720.1 | |||
NM_001318793.1 | 1415 | Intron | NP_001305722.1 | |||
NM_001318795.1 | 1415 | Intron | NP_001305724.1 | |||
NM_001318796.1 | 1415 | Intron | NP_001305725.1 | |||
NM_003264.4 | 1415 | Intron | NP_003255.2 | |||
XM_011532215.2 | 1415 | UTR 3 | XP_011530517.1 | |||
XM_011532216.2 | 1415 | UTR 3 | XP_011530518.1 | |||
XM_017008573.1 | 1415 | UTR 3 | XP_016864062.1 | |||
XM_017008574.1 | 1415 | UTR 3 | XP_016864063.1 | |||
XM_017008575.1 | 1415 | UTR 3 | XP_016864064.1 | |||
XM_017008576.1 | 1415 | UTR 3 | XP_016864065.1 |