Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGGGTGGCGCAGGTGGGAGAAGAG[C/T]CTGAGAGCCCGGGGAGACTTCAGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610990 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NRM 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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NRM - nurim (nuclear envelope membrane protein) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270707.1 | 922 | Silent Mutation | AGA,AGG | R,R 196 | NP_001257636.1 | |
NM_001270708.1 | 922 | UTR 3 | NP_001257637.1 | |||
NM_001270709.1 | 922 | Silent Mutation | AGA,AGG | R,R 131 | NP_001257638.1 | |
NM_001270710.1 | 922 | Missense Mutation | ACT,GCT | T,A 66 | NP_001257639.1 | |
NM_007243.2 | 922 | Silent Mutation | AGA,AGG | R,R 190 | NP_009174.1 | |
XM_017010224.1 | 922 | Silent Mutation | AGA,AGG | R,R 111 | XP_016865713.1 | |
XM_017010225.1 | 922 | Silent Mutation | AGA,AGG | R,R 111 | XP_016865714.1 |
PPP1R18 - protein phosphatase 1 regulatory subunit 18 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134870.1 | 922 | Intron | NP_001128342.1 | |||
NM_133471.3 | 922 | Intron | NP_597728.1 |