Product Details
- SNP ID
-
rs2242183
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:562219 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- CCAGTTTGTCCTGAGGCGCACAGGG[G/C]CCAGCCTAGCTGGGAGGCCCTCCTC
- Phenotype
-
MIM: 612982
MIM: 143023
- Polymorphism
- G/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
LMNTD2
PubMed Links
Gene Details
- Gene
- LMNTD2
- Gene Name
- lamin tail domain containing 2
There are no transcripts associated with this gene.
- Gene
- LRRC56
- Gene Name
- leucine rich repeat containing 56
There are no transcripts associated with this gene.
- Gene
- MIR210
- Gene Name
- microRNA 210
There are no transcripts associated with this gene.
- Gene
- MIR210HG
- Gene Name
- MIR210 host gene
There are no transcripts associated with this gene.
- Gene
- RASSF7
- Gene Name
- Ras association domain family member 7
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001143993.1 |
703 |
Missense Mutation |
CCC,GCC |
P89A |
NP_001137465.1 |
| NM_001143994.1 |
703 |
Missense Mutation |
CCC,GCC |
P89A |
NP_001137466.1 |
| NM_003475.3 |
703 |
Missense Mutation |
CCC,GCC |
P89A |
NP_003466.1 |
| XM_005253149.3 |
703 |
Missense Mutation |
CCC,GCC |
P137A |
XP_005253206.2 |
| XM_005253150.1 |
703 |
Missense Mutation |
CCC,GCC |
P89A |
XP_005253207.1 |
| XM_006718338.2 |
703 |
Missense Mutation |
CCC,GCC |
P89A |
XP_006718401.1 |
| XM_011520389.1 |
703 |
Missense Mutation |
CCC,GCC |
P89A |
XP_011518691.1 |
| XM_017018360.1 |
703 |
Missense Mutation |
CCC,GCC |
P137A |
XP_016873849.1 |
| XM_017018361.1 |
703 |
Missense Mutation |
CCC,GCC |
P89A |
XP_016873850.1 |
| XM_017018362.1 |
703 |
Missense Mutation |
CCC,GCC |
P89A |
XP_016873851.1 |
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