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GGAACGGGTCGCCGCTGTCAGCCCC[A/G]AGTGGCTGGAATGGATCGGGGGCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616826 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EPS15L1 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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EPS15L1 - epidermal growth factor receptor pathway substrate 15 like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258374.1 | 2518 | Silent Mutation | CTC,CTT | L,L 817 | NP_001245303.1 | |
NM_001258375.1 | 2518 | UTR 3 | NP_001245304.1 | |||
NM_001258376.1 | 2518 | Intron | NP_001245305.1 | |||
NM_021235.2 | 2518 | Silent Mutation | CTC,CTT | L,L 817 | NP_067058.1 | |
XM_017027086.1 | 2518 | Silent Mutation | CTC,CTT | L,L 833 | XP_016882575.1 | |
XM_017027087.1 | 2518 | Silent Mutation | CTC,CTT | L,L 833 | XP_016882576.1 | |
XM_017027088.1 | 2518 | Silent Mutation | CTC,CTT | L,L 833 | XP_016882577.1 | |
XM_017027089.1 | 2518 | Silent Mutation | CTC,CTT | L,L 833 | XP_016882578.1 | |
XM_017027090.1 | 2518 | Intron | XP_016882579.1 | |||
XM_017027091.1 | 2518 | Intron | XP_016882580.1 | |||
XM_017027092.1 | 2518 | Intron | XP_016882581.1 |