Product Details
- SNP ID
-
rs143462705
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:68361671 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TAGTCGATGCGCCGGCCGTTGCCCT[G/T]CAGCAGCTCCTTCCGCCCCTTCTGG
- Phenotype
-
MIM: 610087
MIM: 605777
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
PRMT7
PubMed Links
Gene Details
- Gene
- PRMT7
- Gene Name
- protein arginine methyltransferase 7
There are no transcripts associated with this gene.
- Gene
- SMPD3
- Gene Name
- sphingomyelin phosphodiesterase 3
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_018667.3 |
2620 |
Missense Mutation |
AAG,CAG |
K600Q |
NP_061137.1 |
| XM_005256031.3 |
2620 |
Missense Mutation |
AAG,CAG |
K600Q |
XP_005256088.1 |
| XM_005256032.3 |
2620 |
Missense Mutation |
AAG,CAG |
K600Q |
XP_005256089.1 |
| XM_011523207.1 |
2620 |
Missense Mutation |
AAG,CAG |
K600Q |
XP_011521509.1 |
| XM_011523208.2 |
2620 |
Missense Mutation |
AAG,CAG |
K600Q |
XP_011521510.1 |
| XM_011523209.2 |
2620 |
Missense Mutation |
AAG,CAG |
K600Q |
XP_011521511.1 |
| XM_011523210.2 |
2620 |
Intron |
|
|
XP_011521512.1 |
| XM_017023405.1 |
2620 |
Missense Mutation |
AAG,CAG |
K600Q |
XP_016878894.1 |
| XM_017023406.1 |
2620 |
Missense Mutation |
AAG,CAG |
K600Q |
XP_016878895.1 |
| XM_017023407.1 |
2620 |
Missense Mutation |
AAG,CAG |
K600Q |
XP_016878896.1 |
| XM_017023408.1 |
2620 |
Missense Mutation |
AAG,CAG |
K600Q |
XP_016878897.1 |
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