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CGGGGAGACTTCAGGGCCAGAGGCT[C/A]GCCCAGCCCCAGCACATGGTAGTAT
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 - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba)
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SAS - Not Available | Chinese - Not Available | CHB (Han Chinese)
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AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
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 | 887 | Missense Mutation | NP_001257636.1 | |||
NM_001270708.1 | 887 | UTR 3 | NP_001257637.1 | |||
NM_001270709.1 | 887 | Missense Mutation | NP_001257638.1 | |||
NM_001270710.1 | 887 | Missense Mutation | NP_001257639.1 | |||
NM_007243.2 | 887 | Missense Mutation | NP_009174.1 | |||
XM_017010224.1 | 887 | Nonsense Mutation | XP_016865713.1 | |||
XM_017010225.1 | 887 | Nonsense Mutation | XP_016865714.1 |
PPP1R18 - protein phosphatase 1 regulatory subunit 18 | ||||||
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There are no transcripts associated with this gene. |