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Search Thermo Fisher Scientific
CAGCAAAATGCCAAGGACTTCTTCC[A/G]CGTTCTGAACCTTAACAAGGTAAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605349 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NARF 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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NARF - nuclear prelamin A recognition factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001038618.2 | 279 | Missense Mutation | CAC,CGC | H,R 19 | NP_001033707.1 | |
NM_001083608.1 | 279 | Intron | NP_001077077.1 | |||
NM_012336.3 | 279 | Missense Mutation | CAC,CGC | H,R 78 | NP_036468.1 | |
NM_031968.2 | 279 | Missense Mutation | CAC,CGC | H,R 78 | NP_114174.1 | |
XM_005256340.3 | 279 | Missense Mutation | CAC,CGC | H,R 19 | XP_005256397.1 | |
XM_006722278.3 | 279 | Missense Mutation | CAC,CGC | H,R 78 | XP_006722341.1 | |
XM_011523541.2 | 279 | Missense Mutation | CAC,CGC | H,R 19 | XP_011521843.1 | |
XM_011523543.2 | 279 | UTR 5 | XP_011521845.1 | |||
XM_011523544.2 | 279 | Missense Mutation | CAC,CGC | H,R 78 | XP_011521846.1 | |
XM_017024449.1 | 279 | UTR 5 | XP_016879938.1 | |||
XM_017024450.1 | 279 | UTR 5 | XP_016879939.1 |