Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCTGGACGAGACAGTGGTGAACCGC[A/T]TCGCGGCGGGGGAAGTTATCCAGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607911 MIM: 120436 | ||||||||||||||||||||
Literature Links: |
EPM2AIP1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
EPM2AIP1 - EPM2A interacting protein 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014805.3 | 253 | Intron | NP_055620.1 |
MLH1 - mutL homolog 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000249.3 | 253 | Missense Mutation | ATC,TTC | I,F 19 | NP_000240.1 | |
NM_001167617.1 | 253 | Intron | NP_001161089.1 | |||
NM_001167618.1 | 253 | Intron | NP_001161090.1 | |||
NM_001167619.1 | 253 | Intron | NP_001161091.1 | |||
NM_001258271.1 | 253 | Missense Mutation | ATC,TTC | I,F 19 | NP_001245200.1 | |
NM_001258273.1 | 253 | UTR 5 | NP_001245202.1 | |||
NM_001258274.1 | 253 | Intron | NP_001245203.1 | |||
XM_005265161.1 | 253 | Missense Mutation | ATC,TTC | I,F 19 | XP_005265218.1 | |
XM_005265163.1 | 253 | Intron | XP_005265220.1 | |||
XM_005265164.1 | 253 | UTR 5 | XP_005265221.1 | |||
XM_005265166.1 | 253 | Intron | XP_005265223.1 | |||
XM_011533727.1 | 253 | Intron | XP_011532029.1 | |||
XM_017006449.1 | 253 | Intron | XP_016861938.1 | |||
XM_017006450.1 | 253 | UTR 5 | XP_016861939.1 | |||
XM_017006451.1 | 253 | UTR 5 | XP_016861940.1 |