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ATTCCAACTCCAACGTCATCATGCA[C/T]GAGACCTCGCAGTACCACGTCCAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614988 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EPS8L2 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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EPS8L2 - EPS8 like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022772.3 | 388 | Silent Mutation | CAC,CAT | H,H 47 | NP_073609.2 | |
XM_017018130.1 | 388 | Missense Mutation | CAC,CAT | H,H 47 | XP_016873619.1 | |
XM_017018131.1 | 388 | Missense Mutation | CAC,CAT | H,H 47 | XP_016873620.1 | |
XM_017018132.1 | 388 | Missense Mutation | CAC,CAT | H,H 47 | XP_016873621.1 |
TMEM80 - transmembrane protein 80 | ||||||
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There are no transcripts associated with this gene. |