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TGTCCAAGCAGAGGTTAGTGCCTTA[C/T]ACTCCATAACCAATGTTGCAGCCGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
31 submissions
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Phenotype: |
MIM: 602672 MIM: 603702 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NUP210L 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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NUP210L - nucleoporin 210 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001159484.1 | 5728 | Missense Mutation | ATA,GTA | I,V 1734 | NP_001152956.1 | |
NM_207308.2 | 5728 | Missense Mutation | ATA,GTA | I,V 1886 | NP_997191.2 | |
XM_011510122.1 | 5728 | Missense Mutation | ATA,GTA | I,V 1842 | XP_011508424.1 | |
XM_011510123.1 | 5728 | Missense Mutation | ATA,GTA | I,V 1833 | XP_011508425.1 | |
XM_011510124.1 | 5728 | Intron | XP_011508426.1 | |||
XM_017002788.1 | 5728 | Missense Mutation | ATA,GTA | I,V 1851 | XP_016858277.1 | |
XM_017002789.1 | 5728 | Intron | XP_016858278.1 |
RAB13 - RAB13, member RAS oncogene family | ||||||
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There are no transcripts associated with this gene. |
RPS27 - ribosomal protein S27 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001030.4 | 5728 | Intron | NP_001021.1 |