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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1453715467

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:63940844 (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=0.000005 (1/202100, GnomAD_exome)
A=0.0003 (3/8844, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UCKL1 : Stop Gained
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 8844 G=0.9997 A=0.0003 0.999322 0.0 0.000678 0
European Sub 5954 G=0.9997 A=0.0003 0.999328 0.0 0.000672 0
African Sub 578 G=1.000 A=0.000 1.0 0.0 0.0 N/A
African Others Sub 8 G=1.0 A=0.0 1.0 0.0 0.0 N/A
African American Sub 570 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Asian Sub 54 G=1.00 A=0.00 1.0 0.0 0.0 N/A
East Asian Sub 26 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 28 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 0 G=0 A=0 0 0 0 N/A
Latin American 2 Sub 0 G=0 A=0 0 0 0 N/A
South Asian Sub 0 G=0 A=0 0 0 0 N/A
Other Sub 2258 G=0.9996 A=0.0004 0.999114 0.0 0.000886 0


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 202100 G=0.999995 A=0.000005
gnomAD - Exomes European Sub 107688 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 38382 G=0.99997 A=0.00003
gnomAD - Exomes American Sub 29910 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 15522 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 5672 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 4926 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 8844 G=0.9997 A=0.0003
Allele Frequency Aggregator European Sub 5954 G=0.9997 A=0.0003
Allele Frequency Aggregator Other Sub 2258 G=0.9996 A=0.0004
Allele Frequency Aggregator African Sub 578 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 54 G=1.00 A=0.00
Allele Frequency Aggregator Latin American 1 Sub 0 G=0 A=0
Allele Frequency Aggregator Latin American 2 Sub 0 G=0 A=0
Allele Frequency Aggregator South Asian Sub 0 G=0 A=0
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.63940844G>A
GRCh37.p13 chr 20 NC_000020.10:g.62572197G>A
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.1129C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform 1 NP_060329.2:p.Gln377Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant 9 NM_001353480.2:c.775C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform 8 NP_001340409.1:p.Gln259Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant 7 NM_001353478.2:c.1084C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform 6 NP_001340407.1:p.Gln362Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant 11 NM_001353482.2:c.505C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform 9 NP_001340411.1:p.Gln169Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant 2 NM_001193379.2:c.1084C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform 2 NP_001180308.1:p.Gln362Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant 6 NM_001353477.2:c.1126C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform 5 NP_001340406.1:p.Gln376Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant 5 NM_001353476.2:c.1129C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform 4 NP_001340405.1:p.Gln377Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant 8 NM_001353479.2:c.1081C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform 7 NP_001340408.1:p.Gln361Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant 4 NM_001353475.2:c.1132C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform 3 NP_001340404.1:p.Gln378Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant 10 NM_001353481.2:c.505C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform 9 NP_001340410.1:p.Gln169Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant 16 NR_148438.2:n.1106C>T N/A Non Coding Transcript Variant
UCKL1 transcript variant 13 NR_148435.2:n.1167C>T N/A Non Coding Transcript Variant
UCKL1 transcript variant 18 NR_148440.2:n.1109C>T N/A Non Coding Transcript Variant
UCKL1 transcript variant 12 NR_148434.2:n.1193C>T N/A Non Coding Transcript Variant
UCKL1 transcript variant 14 NR_148436.2:n.1196C>T N/A Non Coding Transcript Variant
UCKL1 transcript variant 15 NR_148437.2:n.1129C>T N/A Non Coding Transcript Variant
UCKL1 transcript variant 17 NR_148439.2:n.1190C>T N/A Non Coding Transcript Variant
UCKL1 transcript variant 19 NR_148441.2:n.1144C>T N/A Non Coding Transcript Variant
UCKL1 transcript variant 20 NR_148442.2:n.1170C>T N/A Non Coding Transcript Variant
UCKL1 transcript variant 3 NR_126526.2:n.1173C>T N/A Non Coding Transcript Variant
UCKL1 transcript variant X22 XM_047440239.1:c.*57= 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 X23 XM_047440240.1:c. N/A Genic Downstream Transcript Variant
UCKL1 transcript variant X24 XM_047440241.1:c. N/A Genic Downstream Transcript Variant
UCKL1 transcript variant X25 XM_047440242.1:c. N/A Genic Downstream Transcript Variant
UCKL1 transcript variant X1 XM_006723806.3:c.1159C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X1 XP_006723869.1:p.Gln387Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X4 XM_006723807.3:c.1156C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X3 XP_006723870.1:p.Gln386Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X8 XM_005260216.3:c.1153C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X6 XP_005260273.1:p.Gln385Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X5 XM_047440226.1:c.1156C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X4 XP_047296182.1:p.Gln386Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X7 XM_047440227.1:c.1153C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X5 XP_047296183.1:p.Gln385Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X9 XM_006723809.2:c.1135C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X7 XP_006723872.1:p.Gln379Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X11 XM_047440228.1:c.1132C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X8 XP_047296184.1:p.Gln378Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X12 XM_047440229.1:c.1114C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X9 XP_047296185.1:p.Gln372Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X13 XM_047440230.1:c.1111C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X10 XP_047296186.1:p.Gln371Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X14 XM_047440231.1:c.811C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X11 XP_047296187.1:p.Gln271Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X15 XM_047440232.1:c.811C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X11 XP_047296188.1:p.Gln271Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X16 XM_047440233.1:c.781C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X12 XP_047296189.1:p.Gln261Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X17 XM_047440234.1:c.1178C>T T [ACA] > I [ATA] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X13 XP_047296190.1:p.Thr393Ile T (Thr) > I (Ile) Missense Variant
UCKL1 transcript variant X18 XM_047440235.1:c.1136C>T T [ACA] > I [ATA] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X14 XP_047296191.1:p.Thr379Ile T (Thr) > I (Ile) Missense Variant
UCKL1 transcript variant X19 XM_047440236.1:c.1133C>T T [ACA] > I [ATA] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X15 XP_047296192.1:p.Thr378Ile T (Thr) > I (Ile) Missense Variant
UCKL1 transcript variant X20 XM_047440237.1:c.1127C>T T [ACA] > I [ATA] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X16 XP_047296193.1:p.Thr376Ile T (Thr) > I (Ile) Missense Variant
UCKL1 transcript variant X26 XM_047440243.1:c.472C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X21 XP_047296199.1:p.Gln158Ter Q (Gln) > * (Ter) Stop Gained
UCKL1 transcript variant X27 XM_047440244.1:c.472C>T Q [CAG] > * [TAG] Coding Sequence Variant
uridine-cytidine kinase-like 1 isoform X21 XP_047296200.1:p.Gln158Ter Q (Gln) > * (Ter) Stop Gained
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
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 20 NC_000020.11:g.63940844= NC_000020.11:g.63940844G>A
GRCh37.p13 chr 20 NC_000020.10:g.62572197= NC_000020.10:g.62572197G>A
UCKL1 transcript variant 1 NM_017859.4:c.1129= NM_017859.4:c.1129C>T
UCKL1 transcript variant 1 NM_017859.3:c.1129= NM_017859.3:c.1129C>T
UCKL1 transcript variant X1 XM_006723806.3:c.1159= XM_006723806.3:c.1159C>T
UCKL1 transcript variant X1 XM_006723806.2:c.1159= XM_006723806.2:c.1159C>T
UCKL1 transcript variant X7 XM_006723806.1:c.1159= XM_006723806.1:c.1159C>T
UCKL1 transcript variant X4 XM_006723807.3:c.1156= XM_006723807.3:c.1156C>T
UCKL1 transcript variant X3 XM_006723807.2:c.1156= XM_006723807.2:c.1156C>T
UCKL1 transcript variant X8 XM_006723807.1:c.1156= XM_006723807.1:c.1156C>T
UCKL1 transcript variant X8 XM_005260216.3:c.1153= XM_005260216.3:c.1153C>T
UCKL1 transcript variant X6 XM_005260216.2:c.1153= XM_005260216.2:c.1153C>T
UCKL1 transcript variant X1 XM_005260216.1:c.1153= XM_005260216.1:c.1153C>T
UCKL1 transcript variant 7 NM_001353478.2:c.1084= NM_001353478.2:c.1084C>T
UCKL1 transcript variant 7 NM_001353478.1:c.1084= NM_001353478.1:c.1084C>T
UCKL1 transcript variant 2 NM_001193379.2:c.1084= NM_001193379.2:c.1084C>T
UCKL1 transcript variant 2 NM_001193379.1:c.1084= NM_001193379.1:c.1084C>T
UCKL1 transcript variant 8 NM_001353479.2:c.1081= NM_001353479.2:c.1081C>T
UCKL1 transcript variant 8 NM_001353479.1:c.1081= NM_001353479.1:c.1081C>T
UCKL1 transcript variant 12 NR_148434.2:n.1193= NR_148434.2:n.1193C>T
UCKL1 transcript variant 12 NR_148434.1:n.1224= NR_148434.1:n.1224C>T
UCKL1 transcript variant 17 NR_148439.2:n.1190= NR_148439.2:n.1190C>T
UCKL1 transcript variant 17 NR_148439.1:n.1221= NR_148439.1:n.1221C>T
UCKL1 transcript variant 9 NM_001353480.2:c.775= NM_001353480.2:c.775C>T
UCKL1 transcript variant 9 NM_001353480.1:c.775= NM_001353480.1:c.775C>T
UCKL1 transcript variant X9 XM_006723809.2:c.1135= XM_006723809.2:c.1135C>T
UCKL1 transcript variant X17 XM_006723809.1:c.1135= XM_006723809.1:c.1135C>T
UCKL1 transcript variant 4 NM_001353475.2:c.1132= NM_001353475.2:c.1132C>T
UCKL1 transcript variant 4 NM_001353475.1:c.1132= NM_001353475.1:c.1132C>T
UCKL1 transcript variant 14 NR_148436.2:n.1196= NR_148436.2:n.1196C>T
UCKL1 transcript variant 14 NR_148436.1:n.1227= NR_148436.1:n.1227C>T
UCKL1 transcript variant 5 NM_001353476.2:c.1129= NM_001353476.2:c.1129C>T
UCKL1 transcript variant 5 NM_001353476.1:c.1129= NM_001353476.1:c.1129C>T
UCKL1 transcript variant 6 NM_001353477.2:c.1126= NM_001353477.2:c.1126C>T
UCKL1 transcript variant 6 NM_001353477.1:c.1126= NM_001353477.1:c.1126C>T
UCKL1 transcript variant 13 NR_148435.2:n.1167= NR_148435.2:n.1167C>T
UCKL1 transcript variant 13 NR_148435.1:n.1198= NR_148435.1:n.1198C>T
UCKL1 transcript variant 3 NR_126526.2:n.1173= NR_126526.2:n.1173C>T
UCKL1 transcript variant 3 NR_126526.1:n.1204= NR_126526.1:n.1204C>T
UCKL1 transcript variant 20 NR_148442.2:n.1170= NR_148442.2:n.1170C>T
UCKL1 transcript variant 20 NR_148442.1:n.1201= NR_148442.1:n.1201C>T
UCKL1 transcript variant 19 NR_148441.2:n.1144= NR_148441.2:n.1144C>T
UCKL1 transcript variant 19 NR_148441.1:n.1175= NR_148441.1:n.1175C>T
UCKL1 transcript variant 15 NR_148437.2:n.1129= NR_148437.2:n.1129C>T
UCKL1 transcript variant 15 NR_148437.1:n.1160= NR_148437.1:n.1160C>T
UCKL1 transcript variant 11 NM_001353482.2:c.505= NM_001353482.2:c.505C>T
UCKL1 transcript variant 11 NM_001353482.1:c.505= NM_001353482.1:c.505C>T
UCKL1 transcript variant 18 NR_148440.2:n.1109= NR_148440.2:n.1109C>T
UCKL1 transcript variant 18 NR_148440.1:n.1140= NR_148440.1:n.1140C>T
UCKL1 transcript variant 10 NM_001353481.2:c.505= NM_001353481.2:c.505C>T
UCKL1 transcript variant 10 NM_001353481.1:c.505= NM_001353481.1:c.505C>T
UCKL1 transcript variant 16 NR_148438.2:n.1106= NR_148438.2:n.1106C>T
UCKL1 transcript variant 16 NR_148438.1:n.1137= NR_148438.1:n.1137C>T
UCKL1 transcript variant X14 XM_047440231.1:c.811= XM_047440231.1:c.811C>T
UCKL1 transcript variant X12 XM_047440229.1:c.1114= XM_047440229.1:c.1114C>T
UCKL1 transcript variant X13 XM_047440230.1:c.1111= XM_047440230.1:c.1111C>T
UCKL1 transcript variant X15 XM_047440232.1:c.811= XM_047440232.1:c.811C>T
UCKL1 transcript variant X5 XM_047440226.1:c.1156= XM_047440226.1:c.1156C>T
UCKL1 transcript variant X7 XM_047440227.1:c.1153= XM_047440227.1:c.1153C>T
UCKL1 transcript variant X11 XM_047440228.1:c.1132= XM_047440228.1:c.1132C>T
UCKL1 transcript variant X26 XM_047440243.1:c.472= XM_047440243.1:c.472C>T
UCKL1 transcript variant X16 XM_047440233.1:c.781= XM_047440233.1:c.781C>T
UCKL1 transcript variant X27 XM_047440244.1:c.472= XM_047440244.1:c.472C>T
UCKL1 transcript variant X17 XM_047440234.1:c.1178= XM_047440234.1:c.1178C>T
UCKL1 transcript variant X18 XM_047440235.1:c.1136= XM_047440235.1:c.1136C>T
UCKL1 transcript variant X19 XM_047440236.1:c.1133= XM_047440236.1:c.1133C>T
UCKL1 transcript variant X20 XM_047440237.1:c.1127= XM_047440237.1:c.1127C>T
UCKL1 transcript variant X22 XM_047440239.1:c.*57= XM_047440239.1:c.*57C>T
uridine-cytidine kinase-like 1 isoform 1 NP_060329.2:p.Gln377= NP_060329.2:p.Gln377Ter
uridine-cytidine kinase-like 1 isoform X1 XP_006723869.1:p.Gln387= XP_006723869.1:p.Gln387Ter
uridine-cytidine kinase-like 1 isoform X3 XP_006723870.1:p.Gln386= XP_006723870.1:p.Gln386Ter
uridine-cytidine kinase-like 1 isoform X6 XP_005260273.1:p.Gln385= XP_005260273.1:p.Gln385Ter
uridine-cytidine kinase-like 1 isoform 6 NP_001340407.1:p.Gln362= NP_001340407.1:p.Gln362Ter
uridine-cytidine kinase-like 1 isoform 2 NP_001180308.1:p.Gln362= NP_001180308.1:p.Gln362Ter
uridine-cytidine kinase-like 1 isoform 7 NP_001340408.1:p.Gln361= NP_001340408.1:p.Gln361Ter
uridine-cytidine kinase-like 1 isoform 8 NP_001340409.1:p.Gln259= NP_001340409.1:p.Gln259Ter
uridine-cytidine kinase-like 1 isoform X7 XP_006723872.1:p.Gln379= XP_006723872.1:p.Gln379Ter
uridine-cytidine kinase-like 1 isoform 3 NP_001340404.1:p.Gln378= NP_001340404.1:p.Gln378Ter
uridine-cytidine kinase-like 1 isoform 4 NP_001340405.1:p.Gln377= NP_001340405.1:p.Gln377Ter
uridine-cytidine kinase-like 1 isoform 5 NP_001340406.1:p.Gln376= NP_001340406.1:p.Gln376Ter
uridine-cytidine kinase-like 1 isoform 9 NP_001340411.1:p.Gln169= NP_001340411.1:p.Gln169Ter
uridine-cytidine kinase-like 1 isoform 9 NP_001340410.1:p.Gln169= NP_001340410.1:p.Gln169Ter
uridine-cytidine kinase-like 1 isoform X11 XP_047296187.1:p.Gln271= XP_047296187.1:p.Gln271Ter
uridine-cytidine kinase-like 1 isoform X9 XP_047296185.1:p.Gln372= XP_047296185.1:p.Gln372Ter
uridine-cytidine kinase-like 1 isoform X10 XP_047296186.1:p.Gln371= XP_047296186.1:p.Gln371Ter
uridine-cytidine kinase-like 1 isoform X11 XP_047296188.1:p.Gln271= XP_047296188.1:p.Gln271Ter
uridine-cytidine kinase-like 1 isoform X4 XP_047296182.1:p.Gln386= XP_047296182.1:p.Gln386Ter
uridine-cytidine kinase-like 1 isoform X5 XP_047296183.1:p.Gln385= XP_047296183.1:p.Gln385Ter
uridine-cytidine kinase-like 1 isoform X8 XP_047296184.1:p.Gln378= XP_047296184.1:p.Gln378Ter
uridine-cytidine kinase-like 1 isoform X21 XP_047296199.1:p.Gln158= XP_047296199.1:p.Gln158Ter
uridine-cytidine kinase-like 1 isoform X12 XP_047296189.1:p.Gln261= XP_047296189.1:p.Gln261Ter
uridine-cytidine kinase-like 1 isoform X21 XP_047296200.1:p.Gln158= XP_047296200.1:p.Gln158Ter
uridine-cytidine kinase-like 1 isoform X13 XP_047296190.1:p.Thr393= XP_047296190.1:p.Thr393Ile
uridine-cytidine kinase-like 1 isoform X14 XP_047296191.1:p.Thr379= XP_047296191.1:p.Thr379Ile
uridine-cytidine kinase-like 1 isoform X15 XP_047296192.1:p.Thr378= XP_047296192.1:p.Thr378Ile
uridine-cytidine kinase-like 1 isoform X16 XP_047296193.1:p.Thr376= XP_047296193.1:p.Thr376Ile
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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, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2744763726 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000020.10 - 62572197 Jul 13, 2019 (153)
3 ALFA NC_000020.11 - 63940844 Apr 27, 2021 (155)
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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
14088241, ss2744763726 NC_000020.10:62572196:G:A NC_000020.11:63940843:G:A (self)
13637521856 NC_000020.11:63940843:G:A NC_000020.11:63940843:G:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1453715467

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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.

Software version is: 2.0.1.post820+afb47a3d