Product Details
- SNP ID
-
rs148087354
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:18161328 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TAACATCAGCTGTGACTCCCTTAGG[C/T]GAAGAAGAAAGCAACAGAGACAACA
- Phenotype
-
MIM: 613081
MIM: 187680
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KDM1B
PubMed Links
Gene Details
- Gene
- KDM1B
- Gene Name
- lysine demethylase 1B
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_153042.3 |
330 |
Missense Mutation |
GCG,GTG |
A30V |
NP_694587.3 |
| XM_005248925.1 |
330 |
Missense Mutation |
GCG,GTG |
A30V |
XP_005248982.1 |
| XM_005248926.1 |
330 |
Missense Mutation |
GCG,GTG |
A30V |
XP_005248983.1 |
| XM_005248928.1 |
330 |
Missense Mutation |
GCG,GTG |
A30V |
XP_005248985.1 |
| XM_011514385.1 |
330 |
Missense Mutation |
GCG,GTG |
A30V |
XP_011512687.1 |
| XM_011514386.1 |
330 |
Missense Mutation |
GCG,GTG |
A30V |
XP_011512688.1 |
| XM_017010440.1 |
330 |
Missense Mutation |
GCG,GTG |
A30V |
XP_016865929.1 |
| XM_017010441.1 |
330 |
Missense Mutation |
GCG,GTG |
A30V |
XP_016865930.1 |
| XM_017010442.1 |
330 |
Missense Mutation |
GCG,GTG |
A30V |
XP_016865931.1 |
| XM_017010443.1 |
330 |
Missense Mutation |
GCG,GTG |
A30V |
XP_016865932.1 |
| XM_017010445.1 |
330 |
Missense Mutation |
GCG,GTG |
A30V |
XP_016865934.1 |
| XM_017010446.1 |
330 |
Missense Mutation |
GCG,GTG |
A30V |
XP_016865935.1 |
- Gene
- TPMT
- Gene Name
- thiopurine S-methyltransferase
There are no transcripts associated with this gene.
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