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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