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GGTTGAGCATTTTGAGCCGCTGCAG[A/G]CAGCTGAACTGGGCGGGCAGAGCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608739 MIM: 605352 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ERI1 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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ERI1 - exoribonuclease 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_153332.3 | 1350 | Intron | NP_699163.2 | |||
XM_005272401.2 | 1350 | Intron | XP_005272458.1 | |||
XM_011543848.2 | 1350 | Intron | XP_011542150.1 | |||
XM_011543849.1 | 1350 | Intron | XP_011542151.1 | |||
XM_011543850.2 | 1350 | Intron | XP_011542152.1 | |||
XM_011543851.1 | 1350 | Intron | XP_011542153.1 | |||
XM_017013949.1 | 1350 | UTR 5 | XP_016869438.1 | |||
XM_017013950.1 | 1350 | Intron | XP_016869439.1 | |||
XM_017013951.1 | 1350 | Intron | XP_016869440.1 | |||
XM_017013952.1 | 1350 | Intron | XP_016869441.1 | |||
XM_017013953.1 | 1350 | Intron | XP_016869442.1 | |||
XM_017013954.1 | 1350 | Intron | XP_016869443.1 | |||
XM_017013955.1 | 1350 | Intron | XP_016869444.1 |
MFHAS1 - malignant fibrous histiocytoma amplified sequence 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004225.2 | 1350 | Silent Mutation | TGC,TGT | C,C 271 | NP_004216.2 | |
XM_011543852.2 | 1350 | Silent Mutation | TGC,TGT | C,C 271 | XP_011542154.1 |