Product Details
- SNP ID
-
rs148237208
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:49660789 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCCACACAGAACCAGAGGGCATAG[C/T]GTGGTGAGCGTCCGCTTCCTTCCGT
- Phenotype
-
MIM: 610837
MIM: 603734
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
BCL2L12
PubMed Links
Gene Details
- Gene
- BCL2L12
- Gene Name
- BCL2 like 12
There are no transcripts associated with this gene.
- Gene
- IRF3
- Gene Name
- interferon regulatory factor 3
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001197122.1 |
1333 |
Silent Mutation |
ACA,ACG |
T346T |
NP_001184051.1 |
| NM_001197123.1 |
1333 |
Missense Mutation |
CAC,CGC |
H306R |
NP_001184052.1 |
| NM_001197124.1 |
1333 |
Missense Mutation |
CAC,CGC |
H214R |
NP_001184053.1 |
| NM_001197125.1 |
1333 |
Missense Mutation |
CAC,CGC |
H195R |
NP_001184054.1 |
| NM_001197126.1 |
1333 |
Missense Mutation |
CAC,CGC |
H195R |
NP_001184055.1 |
| NM_001197127.1 |
1333 |
Missense Mutation |
CAC,CGC |
H68R |
NP_001184056.1 |
| NM_001197128.1 |
1333 |
Missense Mutation |
CAC,CGC |
H68R |
NP_001184057.1 |
| NM_001571.5 |
1333 |
Missense Mutation |
CAC,CGC |
H341R |
NP_001562.1 |
| XM_006723197.1 |
1333 |
Silent Mutation |
ACA,ACG |
T346T |
XP_006723260.1 |
| XM_006723198.1 |
1333 |
Silent Mutation |
ACA,ACG |
T346T |
XP_006723261.1 |
| XM_006723200.1 |
1333 |
Silent Mutation |
ACA,ACG |
T311T |
XP_006723263.1 |
| XM_006723201.1 |
1333 |
Silent Mutation |
ACA,ACG |
T200T |
XP_006723264.1 |
| XM_006723202.2 |
1333 |
Silent Mutation |
ACA,ACG |
T200T |
XP_006723265.1 |
| XM_017026766.1 |
1333 |
Missense Mutation |
CAC,CGC |
H341R |
XP_016882255.1 |
| XM_017026767.1 |
1333 |
Missense Mutation |
CAC,CGC |
H341R |
XP_016882256.1 |
- Gene
- SCAF1
- Gene Name
- SR-related CTD associated factor 1
There are no transcripts associated with this gene.
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