Product Details
- SNP ID
-
rs147550502
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.22:23764644 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CGTCTCTCCACATGTCACAGAGGGA[G/T]AGGACATGGCCTCCACCCGCTATGA
- Phenotype
-
MIM: 615903
MIM: 185261
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
C22orf15
PubMed Links
Gene Details
- Gene
- C22orf15
- Gene Name
- chromosome 22 open reading frame 15
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_182520.2 |
1348 |
Nonsense Mutation |
GAG,TAG |
E86* |
NP_872326.2 |
XM_011529907.2 |
1348 |
Nonsense Mutation |
GAG,TAG |
E156* |
XP_011528209.1 |
XM_011529908.2 |
1348 |
Nonsense Mutation |
GAG,TAG |
E91* |
XP_011528210.2 |
XM_011529912.2 |
1348 |
Nonsense Mutation |
GAG,TAG |
E103* |
XP_011528214.1 |
XM_017028602.1 |
1348 |
Missense Mutation |
GAG,GAT |
E157D |
XP_016884091.1 |
XM_017028603.1 |
1348 |
Missense Mutation |
GAG,GAT |
E150D |
XP_016884092.1 |
XM_017028604.1 |
1348 |
Missense Mutation |
GAG,GAT |
E157D |
XP_016884093.1 |
XM_017028605.1 |
1348 |
Nonsense Mutation |
GAG,TAG |
E161* |
XP_016884094.1 |
XM_017028606.1 |
1348 |
Missense Mutation |
GAG,GAT |
E157D |
XP_016884095.1 |
XM_017028607.1 |
1348 |
Missense Mutation |
GAG,GAT |
E157D |
XP_016884096.1 |
XM_017028608.1 |
1348 |
Missense Mutation |
GAG,GAT |
E157D |
XP_016884097.1 |
XM_017028609.1 |
1348 |
Missense Mutation |
GAG,GAT |
E94D |
XP_016884098.1 |
XM_017028610.1 |
1348 |
Missense Mutation |
GAG,GAT |
E87D |
XP_016884099.1 |
XM_017028611.1 |
1348 |
Missense Mutation |
GAG,GAT |
E157D |
XP_016884100.1 |
XM_017028612.1 |
1348 |
Nonsense Mutation |
GAG,TAG |
E86* |
XP_016884101.1 |
XM_017028613.1 |
1348 |
Nonsense Mutation |
GAG,TAG |
E161* |
XP_016884102.1 |
XM_017028614.1 |
1348 |
Nonsense Mutation |
GAG,TAG |
E156* |
XP_016884103.1 |
XM_017028615.1 |
1348 |
Missense Mutation |
GAG,GAT |
E87D |
XP_016884104.1 |
XM_017028616.1 |
1348 |
Nonsense Mutation |
GAG,TAG |
E91* |
XP_016884105.1 |
XM_017028617.1 |
1348 |
Missense Mutation |
GAG,GAT |
E87D |
XP_016884106.1 |
XM_017028618.1 |
1348 |
Intron |
|
|
XP_016884107.1 |
- Gene
- CHCHD10
- Gene Name
- coiled-coil-helix-coiled-coil-helix domain containing 10
There are no transcripts associated with this gene.
- Gene
- MMP11
- Gene Name
- matrix metallopeptidase 11
There are no transcripts associated with this gene.
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