Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGGATTTTCTCAGGACTGCTTTTCT[C/T]TTCACCCAGGGCACTGATGCGGATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 177070 MIM: 603805 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EPB42 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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EPB42 - erythrocyte membrane protein band 4.2 | ||||||
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There are no transcripts associated with this gene. |
TGM5 - transglutaminase 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004245.3 | 1018 | Missense Mutation | AAG,GAG | K,E 520 | NP_004236.1 | |
NM_201631.3 | 1018 | Missense Mutation | AAG,GAG | K,E 602 | NP_963925.2 | |
XM_011522230.2 | 1018 | Missense Mutation | AAG,GAG | K,E 259 | XP_011520532.1 | |
XM_017022729.1 | 1018 | Missense Mutation | AAG,GAG | K,E 259 | XP_016878218.1 |