Product Details
- SNP ID
-
rs201999820
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:76729730 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TATGGAATGTATGTTTGGCCCTGTG[C/T]TGTGGTCCTGGCCCAGTACCTTTGG
- Phenotype
-
MIM: 604914
MIM: 615262
MIM: 600813
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
JMJD6
PubMed Links
Gene Details
- Gene
- JMJD6
- Gene Name
- arginine demethylase and lysine hydroxylase
There are no transcripts associated with this gene.
- Gene
- METTL23
- Gene Name
- methyltransferase like 23
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001080510.4 |
455 |
Missense Mutation |
GCT,GTT |
A7V |
NP_001073979.3 |
| NM_001206983.2 |
455 |
Missense Mutation |
GCT,GTT |
A7V |
NP_001193912.1 |
| NM_001206984.2 |
455 |
Missense Mutation |
GCT,GTT |
A7V |
NP_001193913.1 |
| NM_001206985.2 |
455 |
Intron |
|
|
NP_001193914.1 |
| NM_001206986.2 |
455 |
Intron |
|
|
NP_001193915.1 |
| NM_001206987.2 |
455 |
Intron |
|
|
NP_001193916.1 |
| NM_001302703.1 |
455 |
Missense Mutation |
GCT,GTT |
A7V |
NP_001289632.1 |
| NM_001302704.1 |
455 |
Intron |
|
|
NP_001289633.1 |
| NM_001302705.1 |
455 |
Silent Mutation |
CTG,TTG |
L9L |
NP_001289634.1 |
| XM_006721674.3 |
455 |
Missense Mutation |
GCT,GTT |
A7V |
XP_006721737.1 |
| XM_006721675.1 |
455 |
Silent Mutation |
CTG,TTG |
L9L |
XP_006721738.1 |
| XM_006721676.3 |
455 |
Silent Mutation |
CTG,TTG |
L9L |
XP_006721739.1 |
| XM_006721678.3 |
455 |
Silent Mutation |
CTG,TTG |
L9L |
XP_006721741.1 |
| XM_006721679.3 |
455 |
Intron |
|
|
XP_006721742.1 |
| XM_006721680.2 |
455 |
Intron |
|
|
XP_006721743.1 |
| XM_011524282.1 |
455 |
Silent Mutation |
CTG,TTG |
L9L |
XP_011522584.1 |
| XM_017024145.1 |
455 |
Silent Mutation |
CTG,TTG |
L9L |
XP_016879634.1 |
| XM_017024146.1 |
455 |
Missense Mutation |
GCT,GTT |
A31V |
XP_016879635.1 |
- Gene
- MFSD11
- Gene Name
- major facilitator superfamily domain containing 11
There are no transcripts associated with this gene.
- Gene
- MIR636
- Gene Name
- microRNA 636
There are no transcripts associated with this gene.
- Gene
- SRSF2
- Gene Name
- serine and arginine rich splicing factor 2
There are no transcripts associated with this gene.
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