dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1490664586
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr20:63940995 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.000004 (1/264690, TOPMED)G=0.000007 (1/140312, GnomAD)A=0.00004 (1/28256, 14KJPN) (+ 2 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
UCKL1 : Missense VariantMIR1914 : 500B Downstream Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 14050 | C=1.00000 | G=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | C=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | C=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | C=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | C=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | C=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | C=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | C=0.999996 | G=0.000004 |
| gnomAD - Genomes | Global | Study-wide | 140312 | C=0.999993 | G=0.000007 |
| gnomAD - Genomes | European | Sub | 75970 | C=0.99999 | G=0.00001 |
| gnomAD - Genomes | African | Sub | 42066 | C=1.00000 | G=0.00000 |
| gnomAD - Genomes | American | Sub | 13666 | C=1.00000 | G=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=1.0000 | G=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3132 | C=1.0000 | G=0.0000 |
| gnomAD - Genomes | Other | Sub | 2154 | C=1.0000 | G=0.0000 |
| 14KJPN | JAPANESE | Study-wide | 28256 | C=0.99996 | A=0.00004 |
| 8.3KJPN | JAPANESE | Study-wide | 16758 | C=0.99994 | A=0.00006 |
| Allele Frequency Aggregator | Total | Global | 14050 | C=1.00000 | G=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | C=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | C=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=1.00 | G=0.00 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 20 | NC_000020.11:g.63940995C>A |
| GRCh38.p14 chr 20 | NC_000020.11:g.63940995C>G |
| GRCh37.p13 chr 20 | NC_000020.10:g.62572348C>A |
| GRCh37.p13 chr 20 | NC_000020.10:g.62572348C>G |
Gene: UCKL1, uridine-cytidine kinase 1 like 1
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UCKL1 transcript variant 1 | NM_017859.4:c.1071G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 1 | NP_060329.2:p.Leu357= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 1 | NM_017859.4:c.1071G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 1 | NP_060329.2:p.Leu357= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 9 | NM_001353480.2:c.717G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 8 | NP_001340409.1:p.Leu239= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 9 | NM_001353480.2:c.717G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 8 | NP_001340409.1:p.Leu239= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 7 | NM_001353478.2:c.1026G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 6 | NP_001340407.1:p.Leu342= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 7 | NM_001353478.2:c.1026G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 6 | NP_001340407.1:p.Leu342= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 11 | NM_001353482.2:c.447G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 9 | NP_001340411.1:p.Leu149= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 11 | NM_001353482.2:c.447G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 9 | NP_001340411.1:p.Leu149= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 2 | NM_001193379.2:c.1026G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 2 | NP_001180308.1:p.Leu342= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 2 | NM_001193379.2:c.1026G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 2 | NP_001180308.1:p.Leu342= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 6 | NM_001353477.2:c.1068G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 5 | NP_001340406.1:p.Leu356= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 6 | NM_001353477.2:c.1068G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 5 | NP_001340406.1:p.Leu356= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 5 | NM_001353476.2:c.1071G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 4 | NP_001340405.1:p.Leu357= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 5 | NM_001353476.2:c.1071G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 4 | NP_001340405.1:p.Leu357= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 8 | NM_001353479.2:c.1023G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 7 | NP_001340408.1:p.Leu341= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 8 | NM_001353479.2:c.1023G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 7 | NP_001340408.1:p.Leu341= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 4 | NM_001353475.2:c.1074G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 3 | NP_001340404.1:p.Leu358= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 4 | NM_001353475.2:c.1074G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 3 | NP_001340404.1:p.Leu358= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 10 | NM_001353481.2:c.447G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 9 | NP_001340410.1:p.Leu149= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 10 | NM_001353481.2:c.447G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform 9 | NP_001340410.1:p.Leu149= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant 16 | NR_148438.2:n.1048G>T | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 16 | NR_148438.2:n.1048G>C | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 13 | NR_148435.2:n.1109G>T | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 13 | NR_148435.2:n.1109G>C | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 18 | NR_148440.2:n.1051G>T | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 18 | NR_148440.2:n.1051G>C | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 12 | NR_148434.2:n.1135G>T | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 12 | NR_148434.2:n.1135G>C | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 14 | NR_148436.2:n.1138G>T | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 14 | NR_148436.2:n.1138G>C | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 15 | NR_148437.2:n.1071G>T | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 15 | NR_148437.2:n.1071G>C | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 17 | NR_148439.2:n.1132G>T | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 17 | NR_148439.2:n.1132G>C | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 19 | NR_148441.2:n.1086G>T | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 19 | NR_148441.2:n.1086G>C | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 20 | NR_148442.2:n.1112G>T | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 20 | NR_148442.2:n.1112G>C | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 3 | NR_126526.2:n.1115G>T | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant 3 | NR_126526.2:n.1115G>C | N/A | Non Coding Transcript Variant |
| UCKL1 transcript variant X22 | XM_047440239.1:c.1052G>T | * [TGA] > L [TTA] | Terminator Codon Variant |
| uridine-cytidine kinase-like 1 isoform X18 | XP_047296195.1:p.Ter351Leu | * (Ter) > L (Leu) | Stop Lost |
| UCKL1 transcript variant X22 | XM_047440239.1:c.1052G>C | * [TGA] > S [TCA] | Terminator Codon Variant |
| uridine-cytidine kinase-like 1 isoform X18 | XP_047296195.1:p.Ter351Ser | * (Ter) > S (Ser) | Stop Lost |
| UCKL1 transcript variant X23 | XM_047440240.1:c.*98= | N/A | 3 Prime UTR Variant |
| UCKL1 transcript variant X24 | XM_047440241.1:c.*72= | N/A | 3 Prime UTR Variant |
| UCKL1 transcript variant X25 | XM_047440242.1:c.*72= | N/A | 3 Prime UTR Variant |
| UCKL1 transcript variant X3 | XM_017027894.3:c. | N/A | Genic Downstream Transcript Variant |
| UCKL1 transcript variant X21 | XM_047440238.1:c. | N/A | Genic Downstream Transcript Variant |
| UCKL1 transcript variant X1 | XM_006723806.3:c.1101G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X1 | XP_006723869.1:p.Leu367= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X1 | XM_006723806.3:c.1101G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X1 | XP_006723869.1:p.Leu367= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X4 | XM_006723807.3:c.1098G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X3 | XP_006723870.1:p.Leu366= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X4 | XM_006723807.3:c.1098G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X3 | XP_006723870.1:p.Leu366= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X8 | XM_005260216.3:c.1095G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X6 | XP_005260273.1:p.Leu365= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X8 | XM_005260216.3:c.1095G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X6 | XP_005260273.1:p.Leu365= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X5 | XM_047440226.1:c.1098G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X4 | XP_047296182.1:p.Leu366= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X5 | XM_047440226.1:c.1098G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X4 | XP_047296182.1:p.Leu366= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X7 | XM_047440227.1:c.1095G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X5 | XP_047296183.1:p.Leu365= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X7 | XM_047440227.1:c.1095G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X5 | XP_047296183.1:p.Leu365= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X9 | XM_006723809.2:c.1077G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X7 | XP_006723872.1:p.Leu359= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X9 | XM_006723809.2:c.1077G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X7 | XP_006723872.1:p.Leu359= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X11 | XM_047440228.1:c.1074G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X8 | XP_047296184.1:p.Leu358= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X11 | XM_047440228.1:c.1074G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X8 | XP_047296184.1:p.Leu358= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X12 | XM_047440229.1:c.1056G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X9 | XP_047296185.1:p.Leu352= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X12 | XM_047440229.1:c.1056G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X9 | XP_047296185.1:p.Leu352= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X13 | XM_047440230.1:c.1053G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X10 | XP_047296186.1:p.Leu351= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X13 | XM_047440230.1:c.1053G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X10 | XP_047296186.1:p.Leu351= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X14 | XM_047440231.1:c.753G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X11 | XP_047296187.1:p.Leu251= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X14 | XM_047440231.1:c.753G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X11 | XP_047296187.1:p.Leu251= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X15 | XM_047440232.1:c.753G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X11 | XP_047296188.1:p.Leu251= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X15 | XM_047440232.1:c.753G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X11 | XP_047296188.1:p.Leu251= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X16 | XM_047440233.1:c.723G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X12 | XP_047296189.1:p.Leu241= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X16 | XM_047440233.1:c.723G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X12 | XP_047296189.1:p.Leu241= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X17 | XM_047440234.1:c.1120G>T | D [GAT] > Y [TAT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X13 | XP_047296190.1:p.Asp374Tyr | D (Asp) > Y (Tyr) | Missense Variant |
| UCKL1 transcript variant X17 | XM_047440234.1:c.1120G>C | D [GAT] > H [CAT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X13 | XP_047296190.1:p.Asp374His | D (Asp) > H (His) | Missense Variant |
| UCKL1 transcript variant X18 | XM_047440235.1:c.1078G>T | D [GAT] > Y [TAT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X14 | XP_047296191.1:p.Asp360Tyr | D (Asp) > Y (Tyr) | Missense Variant |
| UCKL1 transcript variant X18 | XM_047440235.1:c.1078G>C | D [GAT] > H [CAT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X14 | XP_047296191.1:p.Asp360His | D (Asp) > H (His) | Missense Variant |
| UCKL1 transcript variant X19 | XM_047440236.1:c.1075G>T | D [GAT] > Y [TAT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X15 | XP_047296192.1:p.Asp359Tyr | D (Asp) > Y (Tyr) | Missense Variant |
| UCKL1 transcript variant X19 | XM_047440236.1:c.1075G>C | D [GAT] > H [CAT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X15 | XP_047296192.1:p.Asp359His | D (Asp) > H (His) | Missense Variant |
| UCKL1 transcript variant X20 | XM_047440237.1:c.1069G>T | D [GAT] > Y [TAT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X16 | XP_047296193.1:p.Asp357Tyr | D (Asp) > Y (Tyr) | Missense Variant |
| UCKL1 transcript variant X20 | XM_047440237.1:c.1069G>C | D [GAT] > H [CAT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X16 | XP_047296193.1:p.Asp357His | D (Asp) > H (His) | Missense Variant |
| UCKL1 transcript variant X26 | XM_047440243.1:c.414G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X21 | XP_047296199.1:p.Leu138= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X26 | XM_047440243.1:c.414G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X21 | XP_047296199.1:p.Leu138= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X27 | XM_047440244.1:c.414G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X21 | XP_047296200.1:p.Leu138= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X27 | XM_047440244.1:c.414G>C | L [CTG] > L [CTC] | Coding Sequence Variant |
| uridine-cytidine kinase-like 1 isoform X21 | XP_047296200.1:p.Leu138= | L (Leu) > L (Leu) | Synonymous Variant |
| UCKL1 transcript variant X2 | XR_007067459.1:n. | N/A | Genic Downstream Transcript Variant |
| UCKL1 transcript variant X6 | XR_007067460.1:n. | N/A | Genic Downstream Transcript Variant |
| UCKL1 transcript variant X10 | XR_007067461.1:n. | N/A | Genic Downstream Transcript Variant |
Gene: MIR1914, microRNA 1914
(minus strand)
:
500B Downstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MIR1914 transcript | NR_031735.1:n. | N/A | Downstream Transcript Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A | G |
|---|---|---|---|
| GRCh38.p14 chr 20 | NC_000020.11:g.63940995= | NC_000020.11:g.63940995C>A | NC_000020.11:g.63940995C>G |
| GRCh37.p13 chr 20 | NC_000020.10:g.62572348= | NC_000020.10:g.62572348C>A | NC_000020.10:g.62572348C>G |
| UCKL1 transcript variant 1 | NM_017859.4:c.1071= | NM_017859.4:c.1071G>T | NM_017859.4:c.1071G>C |
| UCKL1 transcript variant 1 | NM_017859.3:c.1071= | NM_017859.3:c.1071G>T | NM_017859.3:c.1071G>C |
| UCKL1 transcript variant X1 | XM_006723806.3:c.1101= | XM_006723806.3:c.1101G>T | XM_006723806.3:c.1101G>C |
| UCKL1 transcript variant X1 | XM_006723806.2:c.1101= | XM_006723806.2:c.1101G>T | XM_006723806.2:c.1101G>C |
| UCKL1 transcript variant X7 | XM_006723806.1:c.1101= | XM_006723806.1:c.1101G>T | XM_006723806.1:c.1101G>C |
| UCKL1 transcript variant X4 | XM_006723807.3:c.1098= | XM_006723807.3:c.1098G>T | XM_006723807.3:c.1098G>C |
| UCKL1 transcript variant X3 | XM_006723807.2:c.1098= | XM_006723807.2:c.1098G>T | XM_006723807.2:c.1098G>C |
| UCKL1 transcript variant X8 | XM_006723807.1:c.1098= | XM_006723807.1:c.1098G>T | XM_006723807.1:c.1098G>C |
| UCKL1 transcript variant X8 | XM_005260216.3:c.1095= | XM_005260216.3:c.1095G>T | XM_005260216.3:c.1095G>C |
| UCKL1 transcript variant X6 | XM_005260216.2:c.1095= | XM_005260216.2:c.1095G>T | XM_005260216.2:c.1095G>C |
| UCKL1 transcript variant X1 | XM_005260216.1:c.1095= | XM_005260216.1:c.1095G>T | XM_005260216.1:c.1095G>C |
| UCKL1 transcript variant 7 | NM_001353478.2:c.1026= | NM_001353478.2:c.1026G>T | NM_001353478.2:c.1026G>C |
| UCKL1 transcript variant 7 | NM_001353478.1:c.1026= | NM_001353478.1:c.1026G>T | NM_001353478.1:c.1026G>C |
| UCKL1 transcript variant 2 | NM_001193379.2:c.1026= | NM_001193379.2:c.1026G>T | NM_001193379.2:c.1026G>C |
| UCKL1 transcript variant 2 | NM_001193379.1:c.1026= | NM_001193379.1:c.1026G>T | NM_001193379.1:c.1026G>C |
| UCKL1 transcript variant 8 | NM_001353479.2:c.1023= | NM_001353479.2:c.1023G>T | NM_001353479.2:c.1023G>C |
| UCKL1 transcript variant 8 | NM_001353479.1:c.1023= | NM_001353479.1:c.1023G>T | NM_001353479.1:c.1023G>C |
| UCKL1 transcript variant 12 | NR_148434.2:n.1135= | NR_148434.2:n.1135G>T | NR_148434.2:n.1135G>C |
| UCKL1 transcript variant 12 | NR_148434.1:n.1166= | NR_148434.1:n.1166G>T | NR_148434.1:n.1166G>C |
| UCKL1 transcript variant 17 | NR_148439.2:n.1132= | NR_148439.2:n.1132G>T | NR_148439.2:n.1132G>C |
| UCKL1 transcript variant 17 | NR_148439.1:n.1163= | NR_148439.1:n.1163G>T | NR_148439.1:n.1163G>C |
| UCKL1 transcript variant 9 | NM_001353480.2:c.717= | NM_001353480.2:c.717G>T | NM_001353480.2:c.717G>C |
| UCKL1 transcript variant 9 | NM_001353480.1:c.717= | NM_001353480.1:c.717G>T | NM_001353480.1:c.717G>C |
| UCKL1 transcript variant X9 | XM_006723809.2:c.1077= | XM_006723809.2:c.1077G>T | XM_006723809.2:c.1077G>C |
| UCKL1 transcript variant X17 | XM_006723809.1:c.1077= | XM_006723809.1:c.1077G>T | XM_006723809.1:c.1077G>C |
| UCKL1 transcript variant 4 | NM_001353475.2:c.1074= | NM_001353475.2:c.1074G>T | NM_001353475.2:c.1074G>C |
| UCKL1 transcript variant 4 | NM_001353475.1:c.1074= | NM_001353475.1:c.1074G>T | NM_001353475.1:c.1074G>C |
| UCKL1 transcript variant 14 | NR_148436.2:n.1138= | NR_148436.2:n.1138G>T | NR_148436.2:n.1138G>C |
| UCKL1 transcript variant 14 | NR_148436.1:n.1169= | NR_148436.1:n.1169G>T | NR_148436.1:n.1169G>C |
| UCKL1 transcript variant 5 | NM_001353476.2:c.1071= | NM_001353476.2:c.1071G>T | NM_001353476.2:c.1071G>C |
| UCKL1 transcript variant 5 | NM_001353476.1:c.1071= | NM_001353476.1:c.1071G>T | NM_001353476.1:c.1071G>C |
| UCKL1 transcript variant 6 | NM_001353477.2:c.1068= | NM_001353477.2:c.1068G>T | NM_001353477.2:c.1068G>C |
| UCKL1 transcript variant 6 | NM_001353477.1:c.1068= | NM_001353477.1:c.1068G>T | NM_001353477.1:c.1068G>C |
| UCKL1 transcript variant 13 | NR_148435.2:n.1109= | NR_148435.2:n.1109G>T | NR_148435.2:n.1109G>C |
| UCKL1 transcript variant 13 | NR_148435.1:n.1140= | NR_148435.1:n.1140G>T | NR_148435.1:n.1140G>C |
| UCKL1 transcript variant 3 | NR_126526.2:n.1115= | NR_126526.2:n.1115G>T | NR_126526.2:n.1115G>C |
| UCKL1 transcript variant 3 | NR_126526.1:n.1146= | NR_126526.1:n.1146G>T | NR_126526.1:n.1146G>C |
| UCKL1 transcript variant 20 | NR_148442.2:n.1112= | NR_148442.2:n.1112G>T | NR_148442.2:n.1112G>C |
| UCKL1 transcript variant 20 | NR_148442.1:n.1143= | NR_148442.1:n.1143G>T | NR_148442.1:n.1143G>C |
| UCKL1 transcript variant 19 | NR_148441.2:n.1086= | NR_148441.2:n.1086G>T | NR_148441.2:n.1086G>C |
| UCKL1 transcript variant 19 | NR_148441.1:n.1117= | NR_148441.1:n.1117G>T | NR_148441.1:n.1117G>C |
| UCKL1 transcript variant 15 | NR_148437.2:n.1071= | NR_148437.2:n.1071G>T | NR_148437.2:n.1071G>C |
| UCKL1 transcript variant 15 | NR_148437.1:n.1102= | NR_148437.1:n.1102G>T | NR_148437.1:n.1102G>C |
| UCKL1 transcript variant 11 | NM_001353482.2:c.447= | NM_001353482.2:c.447G>T | NM_001353482.2:c.447G>C |
| UCKL1 transcript variant 11 | NM_001353482.1:c.447= | NM_001353482.1:c.447G>T | NM_001353482.1:c.447G>C |
| UCKL1 transcript variant 18 | NR_148440.2:n.1051= | NR_148440.2:n.1051G>T | NR_148440.2:n.1051G>C |
| UCKL1 transcript variant 18 | NR_148440.1:n.1082= | NR_148440.1:n.1082G>T | NR_148440.1:n.1082G>C |
| UCKL1 transcript variant 10 | NM_001353481.2:c.447= | NM_001353481.2:c.447G>T | NM_001353481.2:c.447G>C |
| UCKL1 transcript variant 10 | NM_001353481.1:c.447= | NM_001353481.1:c.447G>T | NM_001353481.1:c.447G>C |
| UCKL1 transcript variant 16 | NR_148438.2:n.1048= | NR_148438.2:n.1048G>T | NR_148438.2:n.1048G>C |
| UCKL1 transcript variant 16 | NR_148438.1:n.1079= | NR_148438.1:n.1079G>T | NR_148438.1:n.1079G>C |
| UCKL1 transcript variant X14 | XM_047440231.1:c.753= | XM_047440231.1:c.753G>T | XM_047440231.1:c.753G>C |
| UCKL1 transcript variant X12 | XM_047440229.1:c.1056= | XM_047440229.1:c.1056G>T | XM_047440229.1:c.1056G>C |
| UCKL1 transcript variant X13 | XM_047440230.1:c.1053= | XM_047440230.1:c.1053G>T | XM_047440230.1:c.1053G>C |
| UCKL1 transcript variant X15 | XM_047440232.1:c.753= | XM_047440232.1:c.753G>T | XM_047440232.1:c.753G>C |
| UCKL1 transcript variant X5 | XM_047440226.1:c.1098= | XM_047440226.1:c.1098G>T | XM_047440226.1:c.1098G>C |
| UCKL1 transcript variant X7 | XM_047440227.1:c.1095= | XM_047440227.1:c.1095G>T | XM_047440227.1:c.1095G>C |
| UCKL1 transcript variant X11 | XM_047440228.1:c.1074= | XM_047440228.1:c.1074G>T | XM_047440228.1:c.1074G>C |
| UCKL1 transcript variant X26 | XM_047440243.1:c.414= | XM_047440243.1:c.414G>T | XM_047440243.1:c.414G>C |
| UCKL1 transcript variant X16 | XM_047440233.1:c.723= | XM_047440233.1:c.723G>T | XM_047440233.1:c.723G>C |
| UCKL1 transcript variant X27 | XM_047440244.1:c.414= | XM_047440244.1:c.414G>T | XM_047440244.1:c.414G>C |
| UCKL1 transcript variant X17 | XM_047440234.1:c.1120= | XM_047440234.1:c.1120G>T | XM_047440234.1:c.1120G>C |
| UCKL1 transcript variant X18 | XM_047440235.1:c.1078= | XM_047440235.1:c.1078G>T | XM_047440235.1:c.1078G>C |
| UCKL1 transcript variant X19 | XM_047440236.1:c.1075= | XM_047440236.1:c.1075G>T | XM_047440236.1:c.1075G>C |
| UCKL1 transcript variant X20 | XM_047440237.1:c.1069= | XM_047440237.1:c.1069G>T | XM_047440237.1:c.1069G>C |
| UCKL1 transcript variant X23 | XM_047440240.1:c.*98= | XM_047440240.1:c.*98G>T | XM_047440240.1:c.*98G>C |
| UCKL1 transcript variant X22 | XM_047440239.1:c.1052= | XM_047440239.1:c.1052G>T | XM_047440239.1:c.1052G>C |
| UCKL1 transcript variant X24 | XM_047440241.1:c.*72= | XM_047440241.1:c.*72G>T | XM_047440241.1:c.*72G>C |
| UCKL1 transcript variant X25 | XM_047440242.1:c.*72= | XM_047440242.1:c.*72G>T | XM_047440242.1:c.*72G>C |
| uridine-cytidine kinase-like 1 isoform 1 | NP_060329.2:p.Leu357= | NP_060329.2:p.Leu357= | NP_060329.2:p.Leu357= |
| uridine-cytidine kinase-like 1 isoform X1 | XP_006723869.1:p.Leu367= | XP_006723869.1:p.Leu367= | XP_006723869.1:p.Leu367= |
| uridine-cytidine kinase-like 1 isoform X3 | XP_006723870.1:p.Leu366= | XP_006723870.1:p.Leu366= | XP_006723870.1:p.Leu366= |
| uridine-cytidine kinase-like 1 isoform X6 | XP_005260273.1:p.Leu365= | XP_005260273.1:p.Leu365= | XP_005260273.1:p.Leu365= |
| uridine-cytidine kinase-like 1 isoform 6 | NP_001340407.1:p.Leu342= | NP_001340407.1:p.Leu342= | NP_001340407.1:p.Leu342= |
| uridine-cytidine kinase-like 1 isoform 2 | NP_001180308.1:p.Leu342= | NP_001180308.1:p.Leu342= | NP_001180308.1:p.Leu342= |
| uridine-cytidine kinase-like 1 isoform 7 | NP_001340408.1:p.Leu341= | NP_001340408.1:p.Leu341= | NP_001340408.1:p.Leu341= |
| uridine-cytidine kinase-like 1 isoform 8 | NP_001340409.1:p.Leu239= | NP_001340409.1:p.Leu239= | NP_001340409.1:p.Leu239= |
| uridine-cytidine kinase-like 1 isoform X7 | XP_006723872.1:p.Leu359= | XP_006723872.1:p.Leu359= | XP_006723872.1:p.Leu359= |
| uridine-cytidine kinase-like 1 isoform 3 | NP_001340404.1:p.Leu358= | NP_001340404.1:p.Leu358= | NP_001340404.1:p.Leu358= |
| uridine-cytidine kinase-like 1 isoform 4 | NP_001340405.1:p.Leu357= | NP_001340405.1:p.Leu357= | NP_001340405.1:p.Leu357= |
| uridine-cytidine kinase-like 1 isoform 5 | NP_001340406.1:p.Leu356= | NP_001340406.1:p.Leu356= | NP_001340406.1:p.Leu356= |
| uridine-cytidine kinase-like 1 isoform 9 | NP_001340411.1:p.Leu149= | NP_001340411.1:p.Leu149= | NP_001340411.1:p.Leu149= |
| uridine-cytidine kinase-like 1 isoform 9 | NP_001340410.1:p.Leu149= | NP_001340410.1:p.Leu149= | NP_001340410.1:p.Leu149= |
| uridine-cytidine kinase-like 1 isoform X11 | XP_047296187.1:p.Leu251= | XP_047296187.1:p.Leu251= | XP_047296187.1:p.Leu251= |
| uridine-cytidine kinase-like 1 isoform X9 | XP_047296185.1:p.Leu352= | XP_047296185.1:p.Leu352= | XP_047296185.1:p.Leu352= |
| uridine-cytidine kinase-like 1 isoform X10 | XP_047296186.1:p.Leu351= | XP_047296186.1:p.Leu351= | XP_047296186.1:p.Leu351= |
| uridine-cytidine kinase-like 1 isoform X11 | XP_047296188.1:p.Leu251= | XP_047296188.1:p.Leu251= | XP_047296188.1:p.Leu251= |
| uridine-cytidine kinase-like 1 isoform X4 | XP_047296182.1:p.Leu366= | XP_047296182.1:p.Leu366= | XP_047296182.1:p.Leu366= |
| uridine-cytidine kinase-like 1 isoform X5 | XP_047296183.1:p.Leu365= | XP_047296183.1:p.Leu365= | XP_047296183.1:p.Leu365= |
| uridine-cytidine kinase-like 1 isoform X8 | XP_047296184.1:p.Leu358= | XP_047296184.1:p.Leu358= | XP_047296184.1:p.Leu358= |
| uridine-cytidine kinase-like 1 isoform X21 | XP_047296199.1:p.Leu138= | XP_047296199.1:p.Leu138= | XP_047296199.1:p.Leu138= |
| uridine-cytidine kinase-like 1 isoform X12 | XP_047296189.1:p.Leu241= | XP_047296189.1:p.Leu241= | XP_047296189.1:p.Leu241= |
| uridine-cytidine kinase-like 1 isoform X21 | XP_047296200.1:p.Leu138= | XP_047296200.1:p.Leu138= | XP_047296200.1:p.Leu138= |
| uridine-cytidine kinase-like 1 isoform X13 | XP_047296190.1:p.Asp374= | XP_047296190.1:p.Asp374Tyr | XP_047296190.1:p.Asp374His |
| uridine-cytidine kinase-like 1 isoform X14 | XP_047296191.1:p.Asp360= | XP_047296191.1:p.Asp360Tyr | XP_047296191.1:p.Asp360His |
| uridine-cytidine kinase-like 1 isoform X15 | XP_047296192.1:p.Asp359= | XP_047296192.1:p.Asp359Tyr | XP_047296192.1:p.Asp359His |
| uridine-cytidine kinase-like 1 isoform X16 | XP_047296193.1:p.Asp357= | XP_047296193.1:p.Asp357Tyr | XP_047296193.1:p.Asp357His |
| uridine-cytidine kinase-like 1 isoform X18 | XP_047296195.1:p.Ter351= | XP_047296195.1:p.Ter351Leu | XP_047296195.1:p.Ter351Ser |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
6 SubSNP,
7 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2744763777 | Nov 08, 2017 (151) |
| 2 | GNOMAD | ss4356527292 | Apr 27, 2021 (155) |
| 3 | TOPMED | ss5094841375 | Apr 27, 2021 (155) |
| 4 | TOMMO_GENOMICS | ss5230490809 | Apr 27, 2021 (155) |
| 5 | EVA | ss5438602390 | Oct 16, 2022 (156) |
| 6 | TOMMO_GENOMICS | ss5790562279 | Oct 16, 2022 (156) |
| 7 | gnomAD - Genomes | NC_000020.11 - 63940995 | Apr 27, 2021 (155) |
| 8 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 9 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 10 | 8.3KJPN | NC_000020.10 - 62572348 | Apr 27, 2021 (155) |
| 11 | 14KJPN | NC_000020.11 - 63940995 | Oct 16, 2022 (156) |
| 12 | TopMed | NC_000020.11 - 63940995 | Apr 27, 2021 (155) |
| 13 | ALFA | NC_000020.11 - 63940995 | Apr 27, 2021 (155) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 88460116, ss2744763777, ss5230490809 | NC_000020.10:62572347:C:A | NC_000020.11:63940994:C:A | (self) |
| 124399383, ss5790562279 | NC_000020.11:63940994:C:A | NC_000020.11:63940994:C:A | |
| ss2744763777, ss5438602390 | NC_000020.10:62572347:C:G | NC_000020.11:63940994:C:G | (self) |
| 557087105, 369950320, 8515146753, ss4356527292, ss5094841375 | NC_000020.11:63940994:C:G | NC_000020.11:63940994:C:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1490664586
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.