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.
rs1490880683
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chrY:13479646 (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
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
- A=0.00002 (1/57579, GnomAD_exome)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
UTY : Missense VariantMIR12120 : 500B Downstream Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
Help
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 |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 57579 | G=0.99998 | A=0.00002 |
| gnomAD - Exomes | European | Sub | 30489 | G=0.99997 | A=0.00003 |
| gnomAD - Exomes | Asian | Sub | 14347 | G=1.00000 | A=0.00000 |
| gnomAD - Exomes | American | Sub | 6466 | G=1.0000 | A=0.0000 |
| gnomAD - Exomes | African | Sub | 2470 | G=1.0000 | A=0.0000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 2406 | G=1.0000 | A=0.0000 |
| gnomAD - Exomes | Other | Sub | 1401 | G=1.0000 | A=0.0000 |
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 Y | NC_000024.10:g.13479646G>A |
| GRCh37.p13 chr Y | NC_000024.9:g.15591526G>A |
Gene: UTY, ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UTY transcript variant 2 | NM_182659.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 2 | NP_872600.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 1 | NM_182660.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 1 | NP_872601.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 3 | NM_007125.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 3 | NP_009056.3:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 5 | NM_001258250.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 5 | NP_001245179.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 6 | NM_001258251.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 6 | NP_001245180.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 7 | NM_001258252.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 7 | NP_001245181.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 8 | NM_001258253.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 8 | NP_001245182.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 9 | NM_001258254.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 9 | NP_001245183.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 10 | NM_001258255.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 10 | NP_001245184.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 11 | NM_001258256.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 11 | NP_001245185.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 12 | NM_001258257.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 12 | NP_001245186.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 13 | NM_001258258.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 13 | NP_001245187.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 14 | NM_001258259.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 14 | NP_001245188.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 15 | NM_001258260.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 15 | NP_001245189.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 16 | NM_001258261.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 16 | NP_001245190.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 17 | NM_001258262.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 17 | NP_001245191.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 18 | NM_001258263.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 18 | NP_001245192.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 19 | NM_001258264.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 19 | NP_001245193.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 20 | NM_001258265.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 20 | NP_001245194.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 21 | NM_001258266.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 21 | NP_001245195.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 22 | NM_001258267.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 22 | NP_001245196.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 23 | NM_001258268.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 23 | NP_001245197.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 24 | NM_001258269.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 24 | NP_001245198.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 25 | NM_001258270.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 25 | NP_001245199.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 4 | NM_001258249.2:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 4 | NP_001245178.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 85 | NM_001400183.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 33 | NP_001387112.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 87 | NM_001400187.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 35 | NP_001387116.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 88 | NM_001400189.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 36 | NP_001387118.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 84 | NM_001400181.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 32 | NP_001387110.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 91 | NM_001400199.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 39 | NP_001387128.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 79 | NM_001400171.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 27 | NP_001387100.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 83 | NM_001400178.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 31 | NP_001387107.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 86 | NM_001400185.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 34 | NP_001387114.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 80 | NM_001400173.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 28 | NP_001387102.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 90 | NM_001400195.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 38 | NP_001387124.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 81 | NM_001400175.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 29 | NP_001387104.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 82 | NM_001400177.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 30 | NP_001387106.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 78 | NM_001400170.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 26 | NP_001387099.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 89 | NM_001400192.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform 37 | NP_001387121.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant 26 | NR_047596.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 27 | NR_047597.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 28 | NR_047598.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 29 | NR_047599.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 30 | NR_047600.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 31 | NR_047601.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 32 | NR_047602.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 33 | NR_047603.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 34 | NR_047604.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 35 | NR_047605.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 36 | NR_047606.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 37 | NR_047607.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 38 | NR_047608.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 39 | NR_047609.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 40 | NR_047610.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 41 | NR_047611.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 42 | NR_047612.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 43 | NR_047613.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 44 | NR_047614.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 45 | NR_047615.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 46 | NR_047616.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 47 | NR_047617.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 48 | NR_047618.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 49 | NR_047619.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 50 | NR_047620.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 51 | NR_047621.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 52 | NR_047622.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 53 | NR_047623.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 54 | NR_047624.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 55 | NR_047625.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 56 | NR_047626.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 57 | NR_047627.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 58 | NR_047628.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 59 | NR_047629.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 61 | NR_047631.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 60 | NR_047630.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 62 | NR_047632.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 64 | NR_047634.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 63 | NR_047633.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 65 | NR_047635.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 66 | NR_047636.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 67 | NR_047637.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 68 | NR_047638.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 69 | NR_047639.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 70 | NR_047640.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 71 | NR_047641.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 72 | NR_047642.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 73 | NR_047643.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 74 | NR_047644.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 75 | NR_047645.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 76 | NR_047646.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 77 | NR_047647.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 93 | NR_174405.1:n.388C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant 92 | NR_174404.1:n.388C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant X1 | XM_011531441.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X1 | XP_011529743.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X2 | XM_011531442.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X2 | XP_011529744.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X3 | XM_011531443.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X3 | XP_011529745.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X4 | XM_047442746.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X4 | XP_047298702.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X5 | XM_011531445.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X5 | XP_011529747.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X6 | XM_011531446.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X6 | XP_011529748.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X7 | XM_011531447.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X7 | XP_011529749.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X8 | XM_011531448.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X8 | XP_011529750.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X9 | XM_011531451.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X9 | XP_011529753.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X10 | XM_011531453.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X10 | XP_011529755.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X11 | XM_011531454.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X11 | XP_011529756.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X12 | XM_011531455.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X12 | XP_011529757.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X13 | XM_047442747.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X13 | XP_047298703.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X14 | XM_047442748.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X14 | XP_047298704.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X15 | XM_047442749.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X15 | XP_047298705.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X16 | XM_047442750.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X16 | XP_047298706.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X17 | XM_047442751.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X17 | XP_047298707.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X18 | XM_047442752.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X18 | XP_047298708.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X19 | XM_047442753.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X19 | XP_047298709.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X20 | XM_047442754.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X20 | XP_047298710.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X21 | XM_011531459.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X21 | XP_011529761.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X22 | XM_047442755.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X22 | XP_047298711.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X24 | XM_017030070.3:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X23 | XP_016885559.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X26 | XM_011531460.4:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X24 | XP_011529762.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X27 | XM_047442756.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X25 | XP_047298712.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X28 | XM_047442757.1:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X26 | XP_047298713.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X29 | XM_017030071.3:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X27 | XP_016885560.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X30 | XM_017030073.3:c.20C>T | S [TCG] > L [TTG] | Coding Sequence Variant |
| histone demethylase UTY isoform X28 | XP_016885562.1:p.Ser7Leu | S (Ser) > L (Leu) | Missense Variant |
| UTY transcript variant X23 | XR_007068451.1:n.1025C>T | N/A | Non Coding Transcript Variant |
| UTY transcript variant X25 | XR_007068452.1:n.1025C>T | N/A | Non Coding Transcript Variant |
Gene: MIR12120, microRNA 12120
(plus strand)
:
500B Downstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MIR12120 transcript | NR_162134.1: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 | G= | A |
|---|---|---|
| GRCh38.p14 chr Y | NC_000024.10:g.13479646= | NC_000024.10:g.13479646G>A |
| GRCh37.p13 chr Y | NC_000024.9:g.15591526= | NC_000024.9:g.15591526G>A |
| UTY transcript variant X12 | XM_011531455.4:c.20= | XM_011531455.4:c.20C>T |
| UTY transcript variant X14 | XM_011531455.3:c.20= | XM_011531455.3:c.20C>T |
| UTY transcript variant X14 | XM_011531455.2:c.20= | XM_011531455.2:c.20C>T |
| UTY transcript variant X15 | XM_011531455.1:c.20= | XM_011531455.1:c.20C>T |
| UTY transcript variant X10 | XM_011531453.4:c.20= | XM_011531453.4:c.20C>T |
| UTY transcript variant X12 | XM_011531453.3:c.20= | XM_011531453.3:c.20C>T |
| UTY transcript variant X12 | XM_011531453.2:c.20= | XM_011531453.2:c.20C>T |
| UTY transcript variant X13 | XM_011531453.1:c.20= | XM_011531453.1:c.20C>T |
| UTY transcript variant X11 | XM_011531454.4:c.20= | XM_011531454.4:c.20C>T |
| UTY transcript variant X13 | XM_011531454.3:c.20= | XM_011531454.3:c.20C>T |
| UTY transcript variant X13 | XM_011531454.2:c.20= | XM_011531454.2:c.20C>T |
| UTY transcript variant X14 | XM_011531454.1:c.20= | XM_011531454.1:c.20C>T |
| UTY transcript variant 3 | NM_007125.4:c.20= | NM_007125.4:c.20C>T |
| UTY transcript variant X1 | XM_011531441.4:c.20= | XM_011531441.4:c.20C>T |
| UTY transcript variant X1 | XM_011531441.3:c.20= | XM_011531441.3:c.20C>T |
| UTY transcript variant X1 | XM_011531441.2:c.20= | XM_011531441.2:c.20C>T |
| UTY transcript variant X1 | XM_011531441.1:c.20= | XM_011531441.1:c.20C>T |
| UTY transcript variant X2 | XM_011531442.4:c.20= | XM_011531442.4:c.20C>T |
| UTY transcript variant X2 | XM_011531442.3:c.20= | XM_011531442.3:c.20C>T |
| UTY transcript variant X2 | XM_011531442.2:c.20= | XM_011531442.2:c.20C>T |
| UTY transcript variant X2 | XM_011531442.1:c.20= | XM_011531442.1:c.20C>T |
| UTY transcript variant X3 | XM_011531443.4:c.20= | XM_011531443.4:c.20C>T |
| UTY transcript variant X3 | XM_011531443.3:c.20= | XM_011531443.3:c.20C>T |
| UTY transcript variant X3 | XM_011531443.2:c.20= | XM_011531443.2:c.20C>T |
| UTY transcript variant X3 | XM_011531443.1:c.20= | XM_011531443.1:c.20C>T |
| UTY transcript variant X5 | XM_011531445.4:c.20= | XM_011531445.4:c.20C>T |
| UTY transcript variant X4 | XM_011531445.3:c.20= | XM_011531445.3:c.20C>T |
| UTY transcript variant X4 | XM_011531445.2:c.20= | XM_011531445.2:c.20C>T |
| UTY transcript variant X5 | XM_011531445.1:c.20= | XM_011531445.1:c.20C>T |
| UTY transcript variant X6 | XM_011531446.4:c.20= | XM_011531446.4:c.20C>T |
| UTY transcript variant X5 | XM_011531446.3:c.20= | XM_011531446.3:c.20C>T |
| UTY transcript variant X5 | XM_011531446.2:c.20= | XM_011531446.2:c.20C>T |
| UTY transcript variant X6 | XM_011531446.1:c.20= | XM_011531446.1:c.20C>T |
| UTY transcript variant X7 | XM_011531447.4:c.20= | XM_011531447.4:c.20C>T |
| UTY transcript variant X6 | XM_011531447.3:c.20= | XM_011531447.3:c.20C>T |
| UTY transcript variant X6 | XM_011531447.2:c.20= | XM_011531447.2:c.20C>T |
| UTY transcript variant X7 | XM_011531447.1:c.20= | XM_011531447.1:c.20C>T |
| UTY transcript variant X8 | XM_011531448.4:c.20= | XM_011531448.4:c.20C>T |
| UTY transcript variant X7 | XM_011531448.3:c.20= | XM_011531448.3:c.20C>T |
| UTY transcript variant X7 | XM_011531448.2:c.20= | XM_011531448.2:c.20C>T |
| UTY transcript variant X8 | XM_011531448.1:c.20= | XM_011531448.1:c.20C>T |
| UTY transcript variant X9 | XM_011531451.4:c.20= | XM_011531451.4:c.20C>T |
| UTY transcript variant X10 | XM_011531451.3:c.20= | XM_011531451.3:c.20C>T |
| UTY transcript variant X10 | XM_011531451.2:c.20= | XM_011531451.2:c.20C>T |
| UTY transcript variant X11 | XM_011531451.1:c.20= | XM_011531451.1:c.20C>T |
| UTY transcript variant X21 | XM_011531459.4:c.20= | XM_011531459.4:c.20C>T |
| UTY transcript variant X18 | XM_011531459.3:c.20= | XM_011531459.3:c.20C>T |
| UTY transcript variant X19 | XM_011531459.2:c.20= | XM_011531459.2:c.20C>T |
| UTY transcript variant X19 | XM_011531459.1:c.20= | XM_011531459.1:c.20C>T |
| UTY transcript variant X26 | XM_011531460.4:c.20= | XM_011531460.4:c.20C>T |
| UTY transcript variant X23 | XM_011531460.3:c.20= | XM_011531460.3:c.20C>T |
| UTY transcript variant X25 | XM_011531460.2:c.20= | XM_011531460.2:c.20C>T |
| UTY transcript variant X21 | XM_011531460.1:c.20= | XM_011531460.1:c.20C>T |
| UTY transcript variant X24 | XM_017030070.3:c.20= | XM_017030070.3:c.20C>T |
| UTY transcript variant X21 | XM_017030070.2:c.20= | XM_017030070.2:c.20C>T |
| UTY transcript variant X23 | XM_017030070.1:c.20= | XM_017030070.1:c.20C>T |
| UTY transcript variant X29 | XM_017030071.3:c.20= | XM_017030071.3:c.20C>T |
| UTY transcript variant X26 | XM_017030071.2:c.20= | XM_017030071.2:c.20C>T |
| UTY transcript variant X28 | XM_017030071.1:c.20= | XM_017030071.1:c.20C>T |
| UTY transcript variant X30 | XM_017030073.3:c.20= | XM_017030073.3:c.20C>T |
| UTY transcript variant X34 | XM_017030073.2:c.20= | XM_017030073.2:c.20C>T |
| UTY transcript variant X35 | XM_017030073.1:c.20= | XM_017030073.1:c.20C>T |
| UTY transcript variant 4 | NM_001258249.2:c.20= | NM_001258249.2:c.20C>T |
| UTY transcript variant 4 | NM_001258249.1:c.20= | NM_001258249.1:c.20C>T |
| UTY transcript variant X14 | XM_047442748.1:c.20= | XM_047442748.1:c.20C>T |
| UTY transcript variant X15 | XM_047442749.1:c.20= | XM_047442749.1:c.20C>T |
| UTY transcript variant X17 | XM_047442751.1:c.20= | XM_047442751.1:c.20C>T |
| UTY transcript variant X18 | XM_047442752.1:c.20= | XM_047442752.1:c.20C>T |
| UTY transcript variant X20 | XM_047442754.1:c.20= | XM_047442754.1:c.20C>T |
| UTY transcript variant 37 | NR_047607.1:n.1025= | NR_047607.1:n.1025C>T |
| UTY transcript variant 28 | NR_047598.1:n.1025= | NR_047598.1:n.1025C>T |
| UTY transcript variant 54 | NR_047624.1:n.1025= | NR_047624.1:n.1025C>T |
| UTY transcript variant X13 | XM_047442747.1:c.20= | XM_047442747.1:c.20C>T |
| UTY transcript variant 75 | NR_047645.1:n.1025= | NR_047645.1:n.1025C>T |
| UTY transcript variant X16 | XM_047442750.1:c.20= | XM_047442750.1:c.20C>T |
| UTY transcript variant 74 | NR_047644.1:n.1025= | NR_047644.1:n.1025C>T |
| UTY transcript variant 13 | NM_001258258.1:c.20= | NM_001258258.1:c.20C>T |
| UTY transcript variant 29 | NR_047599.1:n.1025= | NR_047599.1:n.1025C>T |
| UTY transcript variant 7 | NM_001258252.1:c.20= | NM_001258252.1:c.20C>T |
| UTY transcript variant 16 | NM_001258261.1:c.20= | NM_001258261.1:c.20C>T |
| UTY transcript variant 33 | NR_047603.1:n.1025= | NR_047603.1:n.1025C>T |
| UTY transcript variant 27 | NR_047597.1:n.1025= | NR_047597.1:n.1025C>T |
| UTY transcript variant 72 | NR_047642.1:n.1025= | NR_047642.1:n.1025C>T |
| UTY transcript variant 48 | NR_047618.1:n.1025= | NR_047618.1:n.1025C>T |
| UTY transcript variant 15 | NM_001258260.1:c.20= | NM_001258260.1:c.20C>T |
| UTY transcript variant 19 | NM_001258264.1:c.20= | NM_001258264.1:c.20C>T |
| UTY transcript variant 67 | NR_047637.1:n.1025= | NR_047637.1:n.1025C>T |
| UTY transcript variant 71 | NR_047641.1:n.1025= | NR_047641.1:n.1025C>T |
| UTY transcript variant 21 | NM_001258266.1:c.20= | NM_001258266.1:c.20C>T |
| UTY transcript variant X19 | XM_047442753.1:c.20= | XM_047442753.1:c.20C>T |
| UTY transcript variant 6 | NM_001258251.1:c.20= | NM_001258251.1:c.20C>T |
| UTY transcript variant 22 | NM_001258267.1:c.20= | NM_001258267.1:c.20C>T |
| UTY transcript variant 32 | NR_047602.1:n.1025= | NR_047602.1:n.1025C>T |
| UTY transcript variant 11 | NM_001258256.1:c.20= | NM_001258256.1:c.20C>T |
| UTY transcript variant 77 | NR_047647.1:n.1025= | NR_047647.1:n.1025C>T |
| UTY transcript variant 14 | NM_001258259.1:c.20= | NM_001258259.1:c.20C>T |
| UTY transcript variant 30 | NR_047600.1:n.1025= | NR_047600.1:n.1025C>T |
| UTY transcript variant 17 | NM_001258262.1:c.20= | NM_001258262.1:c.20C>T |
| UTY transcript variant 68 | NR_047638.1:n.1025= | NR_047638.1:n.1025C>T |
| UTY transcript variant 8 | NM_001258253.1:c.20= | NM_001258253.1:c.20C>T |
| UTY transcript variant 76 | NR_047646.1:n.1025= | NR_047646.1:n.1025C>T |
| UTY transcript variant 24 | NM_001258269.1:c.20= | NM_001258269.1:c.20C>T |
| UTY transcript variant 18 | NM_001258263.1:c.20= | NM_001258263.1:c.20C>T |
| UTY transcript variant 65 | NR_047635.1:n.1025= | NR_047635.1:n.1025C>T |
| UTY transcript variant 23 | NM_001258268.1:c.20= | NM_001258268.1:c.20C>T |
| UTY transcript variant 62 | NR_047632.1:n.1025= | NR_047632.1:n.1025C>T |
| UTY transcript variant 10 | NM_001258255.1:c.20= | NM_001258255.1:c.20C>T |
| UTY transcript variant 39 | NR_047609.1:n.1025= | NR_047609.1:n.1025C>T |
| UTY transcript variant 20 | NM_001258265.1:c.20= | NM_001258265.1:c.20C>T |
| UTY transcript variant X4 | XM_047442746.1:c.20= | XM_047442746.1:c.20C>T |
| UTY transcript variant 25 | NM_001258270.1:c.20= | NM_001258270.1:c.20C>T |
| UTY transcript variant 12 | NM_001258257.1:c.20= | NM_001258257.1:c.20C>T |
| UTY transcript variant 73 | NR_047643.1:n.1025= | NR_047643.1:n.1025C>T |
| UTY transcript variant 9 | NM_001258254.1:c.20= | NM_001258254.1:c.20C>T |
| UTY transcript variant 82 | NM_001400177.1:c.20= | NM_001400177.1:c.20C>T |
| UTY transcript variant 5 | NM_001258250.1:c.20= | NM_001258250.1:c.20C>T |
| UTY transcript variant 42 | NR_047612.1:n.1025= | NR_047612.1:n.1025C>T |
| UTY transcript variant 81 | NM_001400175.1:c.20= | NM_001400175.1:c.20C>T |
| UTY transcript variant 83 | NM_001400178.1:c.20= | NM_001400178.1:c.20C>T |
| UTY transcript variant 44 | NR_047614.1:n.1025= | NR_047614.1:n.1025C>T |
| UTY transcript variant 59 | NR_047629.1:n.1025= | NR_047629.1:n.1025C>T |
| UTY transcript variant 51 | NR_047621.1:n.1025= | NR_047621.1:n.1025C>T |
| UTY transcript variant 53 | NR_047623.1:n.1025= | NR_047623.1:n.1025C>T |
| UTY transcript variant 31 | NR_047601.1:n.1025= | NR_047601.1:n.1025C>T |
| UTY transcript variant 52 | NR_047622.1:n.1025= | NR_047622.1:n.1025C>T |
| UTY transcript variant 47 | NR_047617.1:n.1025= | NR_047617.1:n.1025C>T |
| UTY transcript variant 38 | NR_047608.1:n.1025= | NR_047608.1:n.1025C>T |
| UTY transcript variant 45 | NR_047615.1:n.1025= | NR_047615.1:n.1025C>T |
| UTY transcript variant 66 | NR_047636.1:n.1025= | NR_047636.1:n.1025C>T |
| UTY transcript variant 36 | NR_047606.1:n.1025= | NR_047606.1:n.1025C>T |
| UTY transcript variant 41 | NR_047611.1:n.1025= | NR_047611.1:n.1025C>T |
| UTY transcript variant 61 | NR_047631.1:n.1025= | NR_047631.1:n.1025C>T |
| UTY transcript variant 40 | NR_047610.1:n.1025= | NR_047610.1:n.1025C>T |
| UTY transcript variant 58 | NR_047628.1:n.1025= | NR_047628.1:n.1025C>T |
| UTY transcript variant 84 | NM_001400181.1:c.20= | NM_001400181.1:c.20C>T |
| UTY transcript variant 35 | NR_047605.1:n.1025= | NR_047605.1:n.1025C>T |
| UTY transcript variant 43 | NR_047613.1:n.1025= | NR_047613.1:n.1025C>T |
| UTY transcript variant 46 | NR_047616.1:n.1025= | NR_047616.1:n.1025C>T |
| UTY transcript variant 63 | NR_047633.1:n.1025= | NR_047633.1:n.1025C>T |
| UTY transcript variant 57 | NR_047627.1:n.1025= | NR_047627.1:n.1025C>T |
| UTY transcript variant 56 | NR_047626.1:n.1025= | NR_047626.1:n.1025C>T |
| UTY transcript variant 26 | NR_047596.1:n.1025= | NR_047596.1:n.1025C>T |
| UTY transcript variant 64 | NR_047634.1:n.1025= | NR_047634.1:n.1025C>T |
| UTY transcript variant 70 | NR_047640.1:n.1025= | NR_047640.1:n.1025C>T |
| UTY transcript variant 50 | NR_047620.1:n.1025= | NR_047620.1:n.1025C>T |
| UTY transcript variant 60 | NR_047630.1:n.1025= | NR_047630.1:n.1025C>T |
| UTY transcript variant 69 | NR_047639.1:n.1025= | NR_047639.1:n.1025C>T |
| UTY transcript variant 55 | NR_047625.1:n.1025= | NR_047625.1:n.1025C>T |
| UTY transcript variant 49 | NR_047619.1:n.1025= | NR_047619.1:n.1025C>T |
| UTY transcript variant 34 | NR_047604.1:n.1025= | NR_047604.1:n.1025C>T |
| UTY transcript variant 78 | NM_001400170.1:c.20= | NM_001400170.1:c.20C>T |
| UTY transcript variant 79 | NM_001400171.1:c.20= | NM_001400171.1:c.20C>T |
| UTY transcript variant 80 | NM_001400173.1:c.20= | NM_001400173.1:c.20C>T |
| UTY transcript variant X22 | XM_047442755.1:c.20= | XM_047442755.1:c.20C>T |
| UTY transcript variant 2 | NM_182659.1:c.20= | NM_182659.1:c.20C>T |
| UTY transcript variant X23 | XR_007068451.1:n.1025= | XR_007068451.1:n.1025C>T |
| UTY transcript variant X27 | XM_047442756.1:c.20= | XM_047442756.1:c.20C>T |
| UTY transcript variant X25 | XR_007068452.1:n.1025= | XR_007068452.1:n.1025C>T |
| UTY transcript variant 92 | NR_174404.1:n.388= | NR_174404.1:n.388C>T |
| UTY transcript variant X28 | XM_047442757.1:c.20= | XM_047442757.1:c.20C>T |
| UTY transcript variant 93 | NR_174405.1:n.388= | NR_174405.1:n.388C>T |
| UTY transcript variant 1 | NM_182660.1:c.20= | NM_182660.1:c.20C>T |
| UTY transcript variant 85 | NM_001400183.1:c.20= | NM_001400183.1:c.20C>T |
| UTY transcript variant 86 | NM_001400185.1:c.20= | NM_001400185.1:c.20C>T |
| UTY transcript variant 87 | NM_001400187.1:c.20= | NM_001400187.1:c.20C>T |
| UTY transcript variant 88 | NM_001400189.1:c.20= | NM_001400189.1:c.20C>T |
| UTY transcript variant 89 | NM_001400192.1:c.20= | NM_001400192.1:c.20C>T |
| UTY transcript variant 90 | NM_001400195.1:c.20= | NM_001400195.1:c.20C>T |
| UTY transcript variant 91 | NM_001400199.1:c.20= | NM_001400199.1:c.20C>T |
| histone demethylase UTY isoform X12 | XP_011529757.1:p.Ser7= | XP_011529757.1:p.Ser7Leu |
| histone demethylase UTY isoform X10 | XP_011529755.1:p.Ser7= | XP_011529755.1:p.Ser7Leu |
| histone demethylase UTY isoform X11 | XP_011529756.1:p.Ser7= | XP_011529756.1:p.Ser7Leu |
| histone demethylase UTY isoform 3 | NP_009056.3:p.Ser7= | NP_009056.3:p.Ser7Leu |
| histone demethylase UTY isoform X1 | XP_011529743.1:p.Ser7= | XP_011529743.1:p.Ser7Leu |
| histone demethylase UTY isoform X2 | XP_011529744.1:p.Ser7= | XP_011529744.1:p.Ser7Leu |
| histone demethylase UTY isoform X3 | XP_011529745.1:p.Ser7= | XP_011529745.1:p.Ser7Leu |
| histone demethylase UTY isoform X5 | XP_011529747.1:p.Ser7= | XP_011529747.1:p.Ser7Leu |
| histone demethylase UTY isoform X6 | XP_011529748.1:p.Ser7= | XP_011529748.1:p.Ser7Leu |
| histone demethylase UTY isoform X7 | XP_011529749.1:p.Ser7= | XP_011529749.1:p.Ser7Leu |
| histone demethylase UTY isoform X8 | XP_011529750.1:p.Ser7= | XP_011529750.1:p.Ser7Leu |
| histone demethylase UTY isoform X9 | XP_011529753.1:p.Ser7= | XP_011529753.1:p.Ser7Leu |
| histone demethylase UTY isoform X21 | XP_011529761.1:p.Ser7= | XP_011529761.1:p.Ser7Leu |
| histone demethylase UTY isoform X24 | XP_011529762.1:p.Ser7= | XP_011529762.1:p.Ser7Leu |
| histone demethylase UTY isoform X23 | XP_016885559.1:p.Ser7= | XP_016885559.1:p.Ser7Leu |
| histone demethylase UTY isoform X27 | XP_016885560.1:p.Ser7= | XP_016885560.1:p.Ser7Leu |
| histone demethylase UTY isoform X28 | XP_016885562.1:p.Ser7= | XP_016885562.1:p.Ser7Leu |
| histone demethylase UTY isoform 4 | NP_001245178.1:p.Ser7= | NP_001245178.1:p.Ser7Leu |
| histone demethylase UTY isoform X14 | XP_047298704.1:p.Ser7= | XP_047298704.1:p.Ser7Leu |
| histone demethylase UTY isoform X15 | XP_047298705.1:p.Ser7= | XP_047298705.1:p.Ser7Leu |
| histone demethylase UTY isoform X17 | XP_047298707.1:p.Ser7= | XP_047298707.1:p.Ser7Leu |
| histone demethylase UTY isoform X18 | XP_047298708.1:p.Ser7= | XP_047298708.1:p.Ser7Leu |
| histone demethylase UTY isoform X20 | XP_047298710.1:p.Ser7= | XP_047298710.1:p.Ser7Leu |
| histone demethylase UTY isoform X13 | XP_047298703.1:p.Ser7= | XP_047298703.1:p.Ser7Leu |
| histone demethylase UTY isoform X16 | XP_047298706.1:p.Ser7= | XP_047298706.1:p.Ser7Leu |
| histone demethylase UTY isoform 13 | NP_001245187.1:p.Ser7= | NP_001245187.1:p.Ser7Leu |
| histone demethylase UTY isoform 7 | NP_001245181.1:p.Ser7= | NP_001245181.1:p.Ser7Leu |
| histone demethylase UTY isoform 16 | NP_001245190.1:p.Ser7= | NP_001245190.1:p.Ser7Leu |
| histone demethylase UTY isoform 15 | NP_001245189.1:p.Ser7= | NP_001245189.1:p.Ser7Leu |
| histone demethylase UTY isoform 19 | NP_001245193.1:p.Ser7= | NP_001245193.1:p.Ser7Leu |
| histone demethylase UTY isoform 21 | NP_001245195.1:p.Ser7= | NP_001245195.1:p.Ser7Leu |
| histone demethylase UTY isoform X19 | XP_047298709.1:p.Ser7= | XP_047298709.1:p.Ser7Leu |
| histone demethylase UTY isoform 6 | NP_001245180.1:p.Ser7= | NP_001245180.1:p.Ser7Leu |
| histone demethylase UTY isoform 22 | NP_001245196.1:p.Ser7= | NP_001245196.1:p.Ser7Leu |
| histone demethylase UTY isoform 11 | NP_001245185.1:p.Ser7= | NP_001245185.1:p.Ser7Leu |
| histone demethylase UTY isoform 14 | NP_001245188.1:p.Ser7= | NP_001245188.1:p.Ser7Leu |
| histone demethylase UTY isoform 17 | NP_001245191.1:p.Ser7= | NP_001245191.1:p.Ser7Leu |
| histone demethylase UTY isoform 8 | NP_001245182.1:p.Ser7= | NP_001245182.1:p.Ser7Leu |
| histone demethylase UTY isoform 24 | NP_001245198.1:p.Ser7= | NP_001245198.1:p.Ser7Leu |
| histone demethylase UTY isoform 18 | NP_001245192.1:p.Ser7= | NP_001245192.1:p.Ser7Leu |
| histone demethylase UTY isoform 23 | NP_001245197.1:p.Ser7= | NP_001245197.1:p.Ser7Leu |
| histone demethylase UTY isoform 10 | NP_001245184.1:p.Ser7= | NP_001245184.1:p.Ser7Leu |
| histone demethylase UTY isoform 20 | NP_001245194.1:p.Ser7= | NP_001245194.1:p.Ser7Leu |
| histone demethylase UTY isoform X4 | XP_047298702.1:p.Ser7= | XP_047298702.1:p.Ser7Leu |
| histone demethylase UTY isoform 25 | NP_001245199.1:p.Ser7= | NP_001245199.1:p.Ser7Leu |
| histone demethylase UTY isoform 12 | NP_001245186.1:p.Ser7= | NP_001245186.1:p.Ser7Leu |
| histone demethylase UTY isoform 9 | NP_001245183.1:p.Ser7= | NP_001245183.1:p.Ser7Leu |
| histone demethylase UTY isoform 30 | NP_001387106.1:p.Ser7= | NP_001387106.1:p.Ser7Leu |
| histone demethylase UTY isoform 5 | NP_001245179.1:p.Ser7= | NP_001245179.1:p.Ser7Leu |
| histone demethylase UTY isoform 29 | NP_001387104.1:p.Ser7= | NP_001387104.1:p.Ser7Leu |
| histone demethylase UTY isoform 31 | NP_001387107.1:p.Ser7= | NP_001387107.1:p.Ser7Leu |
| histone demethylase UTY isoform 32 | NP_001387110.1:p.Ser7= | NP_001387110.1:p.Ser7Leu |
| histone demethylase UTY isoform 26 | NP_001387099.1:p.Ser7= | NP_001387099.1:p.Ser7Leu |
| histone demethylase UTY isoform 27 | NP_001387100.1:p.Ser7= | NP_001387100.1:p.Ser7Leu |
| histone demethylase UTY isoform 28 | NP_001387102.1:p.Ser7= | NP_001387102.1:p.Ser7Leu |
| histone demethylase UTY isoform X22 | XP_047298711.1:p.Ser7= | XP_047298711.1:p.Ser7Leu |
| histone demethylase UTY isoform 2 | NP_872600.1:p.Ser7= | NP_872600.1:p.Ser7Leu |
| histone demethylase UTY isoform X25 | XP_047298712.1:p.Ser7= | XP_047298712.1:p.Ser7Leu |
| histone demethylase UTY isoform X26 | XP_047298713.1:p.Ser7= | XP_047298713.1:p.Ser7Leu |
| histone demethylase UTY isoform 1 | NP_872601.1:p.Ser7= | NP_872601.1:p.Ser7Leu |
| histone demethylase UTY isoform 33 | NP_001387112.1:p.Ser7= | NP_001387112.1:p.Ser7Leu |
| histone demethylase UTY isoform 34 | NP_001387114.1:p.Ser7= | NP_001387114.1:p.Ser7Leu |
| histone demethylase UTY isoform 35 | NP_001387116.1:p.Ser7= | NP_001387116.1:p.Ser7Leu |
| histone demethylase UTY isoform 36 | NP_001387118.1:p.Ser7= | NP_001387118.1:p.Ser7Leu |
| histone demethylase UTY isoform 37 | NP_001387121.1:p.Ser7= | NP_001387121.1:p.Ser7Leu |
| histone demethylase UTY isoform 38 | NP_001387124.1:p.Ser7= | NP_001387124.1:p.Ser7Leu |
| histone demethylase UTY isoform 39 | NP_001387128.1:p.Ser7= | NP_001387128.1:p.Ser7Leu |
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#.
1 SubSNP,
1 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2745636968 | Nov 08, 2017 (151) |
| 2 | gnomAD - Exomes | NC_000024.9 - 15591526 | Jul 14, 2019 (153) |
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).
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 rs1490880683
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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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.