Product Details

SNP ID
rs63750216
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:36993633 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGGGGAAGTTATCCAGCGGCCAG[C/G]TAATGCTATCAAAGAGATGATTGAG
Phenotype
MIM: 607911 MIM: 120436
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
EPM2AIP1 PubMed Links

Gene Details

Gene
EPM2AIP1
Gene Name
EPM2A interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014805.3 284 Intron NP_055620.1
Gene
MLH1
Gene Name
mutL homolog 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000249.3 284 Missense Mutation GCT,GGT A29G NP_000240.1
NM_001167617.1 284 Intron NP_001161089.1
NM_001167618.1 284 Intron NP_001161090.1
NM_001167619.1 284 Intron NP_001161091.1
NM_001258271.1 284 Missense Mutation GCT,GGT A29G NP_001245200.1
NM_001258273.1 284 UTR 5 NP_001245202.1
NM_001258274.1 284 Intron NP_001245203.1
XM_005265161.1 284 Missense Mutation GCT,GGT A29G XP_005265218.1
XM_005265163.1 284 Intron XP_005265220.1
XM_005265164.1 284 UTR 5 XP_005265221.1
XM_005265166.1 284 Intron XP_005265223.1
XM_011533727.1 284 Intron XP_011532029.1
XM_017006449.1 284 Intron XP_016861938.1
XM_017006450.1 284 UTR 5 XP_016861939.1
XM_017006451.1 284 UTR 5 XP_016861940.1

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