Product Details
- SNP ID
-
rs200652910
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.20:63944681 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCTCACTGATGTCCCGGCGCAGCCG[C/T]CGTACCAGGCGGATGTCGGAGTCTG
- Phenotype
-
MIM: 611203
MIM: 610866
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DNAJC5
PubMed Links
Gene Details
- Gene
- DNAJC5
- Gene Name
- DnaJ heat shock protein family (Hsp40) member C5
There are no transcripts associated with this gene.
- Gene
- MIR1914
- Gene Name
- microRNA 1914
There are no transcripts associated with this gene.
- Gene
- MIR647
- Gene Name
- microRNA 647
There are no transcripts associated with this gene.
- Gene
- UCKL1
- Gene Name
- uridine-cytidine kinase 1 like 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001193379.1 |
983 |
Silent Mutation |
CGA,CGG |
R221R |
NP_001180308.1 |
| NM_017859.3 |
983 |
Silent Mutation |
CGA,CGG |
R236R |
NP_060329.2 |
| XM_005260216.2 |
983 |
Silent Mutation |
CGA,CGG |
R244R |
XP_005260273.1 |
| XM_006723806.2 |
983 |
Silent Mutation |
CGA,CGG |
R244R |
XP_006723869.1 |
| XM_006723807.2 |
983 |
Silent Mutation |
CGA,CGG |
R244R |
XP_006723870.1 |
| XM_006723808.1 |
983 |
Silent Mutation |
CGA,CGG |
R243R |
XP_006723871.1 |
| XM_006723809.1 |
983 |
Silent Mutation |
CGA,CGG |
R236R |
XP_006723872.1 |
| XM_006723810.1 |
983 |
Silent Mutation |
CGA,CGG |
R235R |
XP_006723873.1 |
| XM_006723811.3 |
983 |
Silent Mutation |
CGA,CGG |
R228R |
XP_006723874.1 |
| XM_011528868.2 |
983 |
Silent Mutation |
CGA,CGG |
R229R |
XP_011527170.1 |
| XM_011528869.1 |
983 |
Silent Mutation |
CGA,CGG |
R128R |
XP_011527171.1 |
| XM_011528870.1 |
983 |
Silent Mutation |
CGA,CGG |
R118R |
XP_011527172.1 |
| XM_011528871.1 |
983 |
Silent Mutation |
CGA,CGG |
R118R |
XP_011527173.1 |
| XM_011528872.1 |
983 |
Silent Mutation |
CGA,CGG |
R118R |
XP_011527174.1 |
| XM_011528873.2 |
983 |
Silent Mutation |
CGA,CGG |
R244R |
XP_011527175.1 |
| XM_017027894.1 |
983 |
Silent Mutation |
CGA,CGG |
R244R |
XP_016883383.1 |
| XM_017027895.1 |
983 |
Silent Mutation |
CGA,CGG |
R244R |
XP_016883384.1 |
| XM_017027896.1 |
983 |
Silent Mutation |
CGA,CGG |
R236R |
XP_016883385.1 |
| XM_017027897.1 |
983 |
Silent Mutation |
CGA,CGG |
R236R |
XP_016883386.1 |
| XM_017027898.1 |
983 |
Silent Mutation |
CGA,CGG |
R235R |
XP_016883387.1 |
| XM_017027899.1 |
983 |
Silent Mutation |
CGA,CGG |
R235R |
XP_016883388.1 |
| XM_017027900.1 |
983 |
Silent Mutation |
CGA,CGG |
R220R |
XP_016883389.1 |
| XM_017027901.1 |
983 |
Silent Mutation |
CGA,CGG |
R220R |
XP_016883390.1 |
| XM_017027902.1 |
983 |
Silent Mutation |
CGA,CGG |
R120R |
XP_016883391.1 |
| XM_017027903.1 |
983 |
Silent Mutation |
CGA,CGG |
R118R |
XP_016883392.1 |
| XM_017027904.1 |
983 |
Silent Mutation |
CGA,CGG |
R28R |
XP_016883393.1 |
| XM_017027905.1 |
983 |
Silent Mutation |
CGA,CGG |
R28R |
XP_016883394.1 |
| XM_017027906.1 |
983 |
Silent Mutation |
CGA,CGG |
R28R |
XP_016883395.1 |
| XM_017027907.1 |
983 |
Silent Mutation |
CGA,CGG |
R15R |
XP_016883396.1 |
| XM_017027908.1 |
983 |
Silent Mutation |
CGA,CGG |
R15R |
XP_016883397.1 |
- Gene
- UCKL1-AS1
- Gene Name
- UCKL1 antisense RNA 1
There are no transcripts associated with this gene.
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