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TTGTGCTGAGCGAGCACCTGGCACA[C/G]AGCAGGGACCCAGGCAGTGGGGCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607262 MIM: 191318 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EPN1 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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EPN1 - epsin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130071.1 | 664 | Missense Mutation | CAC,CAG | H,Q 39 | NP_001123543.1 | |
NM_001130072.1 | 664 | Intron | NP_001123544.1 | |||
NM_013333.3 | 664 | Intron | NP_037465.2 | |||
XM_005258829.2 | 664 | Intron | XP_005258886.1 | |||
XM_005258830.2 | 664 | Intron | XP_005258887.1 | |||
XM_011526880.1 | 664 | Intron | XP_011525182.1 | |||
XM_011526881.1 | 664 | Intron | XP_011525183.1 | |||
XM_017026722.1 | 664 | Intron | XP_016882211.1 | |||
XM_017026723.1 | 664 | Intron | XP_016882212.1 | |||
XM_017026724.1 | 664 | Intron | XP_016882213.1 | |||
XM_017026725.1 | 664 | Intron | XP_016882214.1 |
U2AF2 - U2 small nuclear RNA auxiliary factor 2 | ||||||
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There are no transcripts associated with this gene. |