Product Details

SNP ID
rs61751196
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:31401467 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTCTTCAGTCTCATCTGGCTCTC[C/T]CTCTTGATGCTCTCTTTCCCACCTC
Phenotype
MIM: 608828
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
DROSHA PubMed Links

Gene Details

Gene
DROSHA
Gene Name
drosha ribonuclease III
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001100412.1 4501 Missense Mutation AGA,GGA R1327G NP_001093882.1
NM_013235.4 4501 Missense Mutation AGA,GGA R1364G NP_037367.3
XM_005248291.3 4501 Missense Mutation AGA,GGA R1364G XP_005248348.1
XM_005248292.3 4501 Missense Mutation AGA,GGA R1356G XP_005248349.1
XM_005248293.3 4501 Missense Mutation AGA,GGA R1333G XP_005248350.1
XM_005248294.3 4501 Missense Mutation AGA,GGA R1296G XP_005248351.1
XM_011514033.2 4501 Intron XP_011512335.1
XM_017009399.1 4501 Missense Mutation AGA,GGA R1325G XP_016864888.1
XM_017009400.1 4501 Missense Mutation AGA,GGA R1319G XP_016864889.1
XM_017009401.1 4501 Missense Mutation AGA,GGA R1288G XP_016864890.1
XM_017009402.1 4501 Missense Mutation AGA,GGA R796G XP_016864891.1

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