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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.

rs1490982988

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:51441795 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000008 (2/264690, TOPMED)
C=0.000007 (1/140172, GnomAD)
C=0.00000 (0/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DCAF1 : Missense 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 11862 G=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2816 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 G=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2708 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 470 G=1.000 C=0.000 1.0 0.0 0.0 N/A


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
TopMed Global Study-wide 264690 G=0.999992 C=0.000008
gnomAD - Genomes Global Study-wide 140172 G=0.999993 C=0.000007
gnomAD - Genomes European Sub 75920 G=1.00000 C=0.00000
gnomAD - Genomes African Sub 42014 G=1.00000 C=0.00000
gnomAD - Genomes American Sub 13640 G=0.99993 C=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3130 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2150 G=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 11862 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 7618 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2816 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Other Sub 470 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 C=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 3 NC_000003.12:g.51441795G>C
GRCh37.p13 chr 3 NC_000003.11:g.51475811G>C
GRCh37.p13 chr 3 fix patch HG186_PATCH NW_003315910.1:g.63118G>C
Gene: DCAF1, DDB1 and CUL4 associated factor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DCAF1 transcript variant 4 NM_001349169.2:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform 1 NP_001336098.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant 5 NM_001349170.2:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform 1 NP_001336099.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant 6 NM_001349171.2:c.370C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform 3 NP_001336100.1:p.Leu124Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant 1 NM_014703.3:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform 1 NP_055518.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant 3 NM_001349168.2:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform 1 NP_001336097.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant 2 NM_001171904.2:c.613C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform 2 NP_001165375.1:p.Leu205Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant 9 NM_001387579.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform 1 NP_001374508.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant 12 NM_001387582.1:c.613C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform 2 NP_001374511.1:p.Leu205Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant 8 NM_001387578.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform 1 NP_001374507.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant 10 NM_001387580.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform 1 NP_001374509.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant 13 NM_001387583.1:c.370C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform 3 NP_001374512.1:p.Leu124Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant 11 NM_001387581.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform 1 NP_001374510.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant 7 NR_146065.2:n.767C>G N/A Non Coding Transcript Variant
DCAF1 transcript variant 14 NR_170668.1:n.814C>G N/A Non Coding Transcript Variant
DCAF1 transcript variant X29 XM_047449283.1:c. N/A Genic Upstream Transcript Variant
DCAF1 transcript variant X1 XM_047449269.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X1 XP_047305225.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X2 XM_017007549.3:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X1 XP_016863038.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X3 XM_047449270.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X1 XP_047305226.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X4 XM_047449271.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X1 XP_047305227.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X9 XM_017007547.3:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X1 XP_016863036.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X11 XM_005276755.6:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X1 XP_005276812.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X12 XM_011534273.4:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X1 XP_011532575.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X13 XM_047449272.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X1 XP_047305228.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X14 XM_011534275.4:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X1 XP_011532577.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X15 XM_047449273.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X1 XP_047305229.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X16 XM_005276753.6:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X1 XP_005276810.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X17 XM_047449274.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X2 XP_047305230.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X18 XM_047449275.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X2 XP_047305231.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X19 XM_047449276.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X2 XP_047305232.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X20 XM_047449277.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X2 XP_047305233.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X21 XM_047449278.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X2 XP_047305234.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X24 XM_047449279.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X3 XP_047305235.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X25 XM_047449280.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X3 XP_047305236.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X26 XM_047449281.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X3 XP_047305237.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X27 XM_047449282.1:c.616C>G L [CTT] > V [GTT] Coding Sequence Variant
DDB1- and CUL4-associated factor 1 isoform X3 XP_047305238.1:p.Leu206Val L (Leu) > V (Val) Missense Variant
DCAF1 transcript variant X5 XR_007095772.1:n.914C>G N/A Non Coding Transcript Variant
DCAF1 transcript variant X6 XR_001740385.3:n.939C>G N/A Non Coding Transcript Variant
DCAF1 transcript variant X7 XR_007095773.1:n.867C>G N/A Non Coding Transcript Variant
DCAF1 transcript variant X8 XR_007095774.1:n.767C>G N/A Non Coding Transcript Variant
DCAF1 transcript variant X10 XR_007095775.1:n.767C>G N/A Non Coding Transcript Variant
DCAF1 transcript variant X22 XR_007095776.1:n.767C>G N/A Non Coding Transcript Variant
DCAF1 transcript variant X23 XR_007095777.1:n.814C>G N/A Non Coding Transcript Variant
DCAF1 transcript variant X28 XR_007095778.1:n.914C>G N/A Non Coding 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= C
GRCh38.p14 chr 3 NC_000003.12:g.51441795= NC_000003.12:g.51441795G>C
GRCh37.p13 chr 3 NC_000003.11:g.51475811= NC_000003.11:g.51475811G>C
GRCh37.p13 chr 3 fix patch HG186_PATCH NW_003315910.1:g.63118= NW_003315910.1:g.63118G>C
DCAF1 transcript variant X11 XM_005276755.6:c.616= XM_005276755.6:c.616C>G
DCAF1 transcript variant X5 XM_005276755.5:c.616= XM_005276755.5:c.616C>G
VPRBP transcript variant X9 XM_005276755.4:c.616= XM_005276755.4:c.616C>G
VPRBP transcript variant X16 XM_005276755.3:c.616= XM_005276755.3:c.616C>G
VPRBP transcript variant X5 XM_005276755.2:c.616= XM_005276755.2:c.616C>G
VPRBP transcript variant X5 XM_005276755.1:c.616= XM_005276755.1:c.616C>G
DCAF1 transcript variant X16 XM_005276753.6:c.616= XM_005276753.6:c.616C>G
DCAF1 transcript variant X6 XM_005276753.5:c.616= XM_005276753.5:c.616C>G
VPRBP transcript variant X10 XM_005276753.4:c.616= XM_005276753.4:c.616C>G
VPRBP transcript variant X6 XM_005276753.3:c.616= XM_005276753.3:c.616C>G
VPRBP transcript variant X3 XM_005276753.2:c.616= XM_005276753.2:c.616C>G
VPRBP transcript variant X3 XM_005276753.1:c.616= XM_005276753.1:c.616C>G
DCAF1 transcript variant X12 XM_011534273.4:c.616= XM_011534273.4:c.616C>G
DCAF1 transcript variant X1 XM_011534273.3:c.616= XM_011534273.3:c.616C>G
VPRBP transcript variant X3 XM_011534273.2:c.616= XM_011534273.2:c.616C>G
VPRBP transcript variant X1 XM_011534273.1:c.616= XM_011534273.1:c.616C>G
DCAF1 transcript variant X14 XM_011534275.4:c.616= XM_011534275.4:c.616C>G
DCAF1 transcript variant X4 XM_011534275.3:c.616= XM_011534275.3:c.616C>G
VPRBP transcript variant X7 XM_011534275.2:c.616= XM_011534275.2:c.616C>G
VPRBP transcript variant X3 XM_011534275.1:c.616= XM_011534275.1:c.616C>G
DCAF1 transcript variant X2 XM_017007549.3:c.616= XM_017007549.3:c.616C>G
DCAF1 transcript variant X7 XM_017007549.2:c.616= XM_017007549.2:c.616C>G
VPRBP transcript variant X11 XM_017007549.1:c.616= XM_017007549.1:c.616C>G
DCAF1 transcript variant 1 NM_014703.3:c.616= NM_014703.3:c.616C>G
DCAF1 transcript variant 1 NM_014703.2:c.616= NM_014703.2:c.616C>G
DCAF1 transcript variant X9 XM_017007547.3:c.616= XM_017007547.3:c.616C>G
DCAF1 transcript variant X3 XM_017007547.2:c.616= XM_017007547.2:c.616C>G
VPRBP transcript variant X5 XM_017007547.1:c.616= XM_017007547.1:c.616C>G
DCAF1 transcript variant X6 XR_001740385.3:n.939= XR_001740385.3:n.939C>G
DCAF1 transcript variant X9 XR_001740385.2:n.953= XR_001740385.2:n.953C>G
VPRBP transcript variant X13 XR_001740385.1:n.952= XR_001740385.1:n.952C>G
DCAF1 transcript variant 2 NM_001171904.2:c.613= NM_001171904.2:c.613C>G
DCAF1 transcript variant 2 NM_001171904.1:c.613= NM_001171904.1:c.613C>G
DCAF1 transcript variant 4 NM_001349169.2:c.616= NM_001349169.2:c.616C>G
DCAF1 transcript variant 4 NM_001349169.1:c.616= NM_001349169.1:c.616C>G
DCAF1 transcript variant 3 NM_001349168.2:c.616= NM_001349168.2:c.616C>G
DCAF1 transcript variant 3 NM_001349168.1:c.616= NM_001349168.1:c.616C>G
DCAF1 transcript variant 5 NM_001349170.2:c.616= NM_001349170.2:c.616C>G
DCAF1 transcript variant 5 NM_001349170.1:c.616= NM_001349170.1:c.616C>G
DCAF1 transcript variant 6 NM_001349171.2:c.370= NM_001349171.2:c.370C>G
DCAF1 transcript variant 6 NM_001349171.1:c.370= NM_001349171.1:c.370C>G
DCAF1 transcript variant 7 NR_146065.2:n.767= NR_146065.2:n.767C>G
DCAF1 transcript variant 7 NR_146065.1:n.754= NR_146065.1:n.754C>G
DCAF1 transcript variant X10 XR_007095775.1:n.767= XR_007095775.1:n.767C>G
DCAF1 transcript variant X4 XM_047449271.1:c.616= XM_047449271.1:c.616C>G
DCAF1 transcript variant X19 XM_047449276.1:c.616= XM_047449276.1:c.616C>G
DCAF1 transcript variant 11 NM_001387581.1:c.616= NM_001387581.1:c.616C>G
DCAF1 transcript variant X20 XM_047449277.1:c.616= XM_047449277.1:c.616C>G
DCAF1 transcript variant X3 XM_047449270.1:c.616= XM_047449270.1:c.616C>G
DCAF1 transcript variant X21 XM_047449278.1:c.616= XM_047449278.1:c.616C>G
DCAF1 transcript variant X17 XM_047449274.1:c.616= XM_047449274.1:c.616C>G
DCAF1 transcript variant X1 XM_047449269.1:c.616= XM_047449269.1:c.616C>G
DCAF1 transcript variant X27 XM_047449282.1:c.616= XM_047449282.1:c.616C>G
DCAF1 transcript variant X18 XM_047449275.1:c.616= XM_047449275.1:c.616C>G
DCAF1 transcript variant 8 NM_001387578.1:c.616= NM_001387578.1:c.616C>G
DCAF1 transcript variant 10 NM_001387580.1:c.616= NM_001387580.1:c.616C>G
DCAF1 transcript variant X13 XM_047449272.1:c.616= XM_047449272.1:c.616C>G
DCAF1 transcript variant 13 NM_001387583.1:c.370= NM_001387583.1:c.370C>G
DCAF1 transcript variant X15 XM_047449273.1:c.616= XM_047449273.1:c.616C>G
DCAF1 transcript variant 9 NM_001387579.1:c.616= NM_001387579.1:c.616C>G
DCAF1 transcript variant 12 NM_001387582.1:c.613= NM_001387582.1:c.613C>G
DCAF1 transcript variant X26 XM_047449281.1:c.616= XM_047449281.1:c.616C>G
DCAF1 transcript variant X25 XM_047449280.1:c.616= XM_047449280.1:c.616C>G
DCAF1 transcript variant X24 XM_047449279.1:c.616= XM_047449279.1:c.616C>G
DCAF1 transcript variant X5 XR_007095772.1:n.914= XR_007095772.1:n.914C>G
DCAF1 transcript variant X7 XR_007095773.1:n.867= XR_007095773.1:n.867C>G
DCAF1 transcript variant X8 XR_007095774.1:n.767= XR_007095774.1:n.767C>G
DCAF1 transcript variant 14 NR_170668.1:n.814= NR_170668.1:n.814C>G
DCAF1 transcript variant X23 XR_007095777.1:n.814= XR_007095777.1:n.814C>G
DCAF1 transcript variant X28 XR_007095778.1:n.914= XR_007095778.1:n.914C>G
DCAF1 transcript variant X22 XR_007095776.1:n.767= XR_007095776.1:n.767C>G
DDB1- and CUL4-associated factor 1 isoform X1 XP_005276812.1:p.Leu206= XP_005276812.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X1 XP_005276810.1:p.Leu206= XP_005276810.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X1 XP_011532575.1:p.Leu206= XP_011532575.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X1 XP_011532577.1:p.Leu206= XP_011532577.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X1 XP_016863038.1:p.Leu206= XP_016863038.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform 1 NP_055518.1:p.Leu206= NP_055518.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X1 XP_016863036.1:p.Leu206= XP_016863036.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform 2 NP_001165375.1:p.Leu205= NP_001165375.1:p.Leu205Val
DDB1- and CUL4-associated factor 1 isoform 1 NP_001336098.1:p.Leu206= NP_001336098.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform 1 NP_001336097.1:p.Leu206= NP_001336097.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform 1 NP_001336099.1:p.Leu206= NP_001336099.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform 3 NP_001336100.1:p.Leu124= NP_001336100.1:p.Leu124Val
DDB1- and CUL4-associated factor 1 isoform X1 XP_047305227.1:p.Leu206= XP_047305227.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X2 XP_047305232.1:p.Leu206= XP_047305232.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform 1 NP_001374510.1:p.Leu206= NP_001374510.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X2 XP_047305233.1:p.Leu206= XP_047305233.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X1 XP_047305226.1:p.Leu206= XP_047305226.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X2 XP_047305234.1:p.Leu206= XP_047305234.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X2 XP_047305230.1:p.Leu206= XP_047305230.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X1 XP_047305225.1:p.Leu206= XP_047305225.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X3 XP_047305238.1:p.Leu206= XP_047305238.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X2 XP_047305231.1:p.Leu206= XP_047305231.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform 1 NP_001374507.1:p.Leu206= NP_001374507.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform 1 NP_001374509.1:p.Leu206= NP_001374509.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X1 XP_047305228.1:p.Leu206= XP_047305228.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform 3 NP_001374512.1:p.Leu124= NP_001374512.1:p.Leu124Val
DDB1- and CUL4-associated factor 1 isoform X1 XP_047305229.1:p.Leu206= XP_047305229.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform 1 NP_001374508.1:p.Leu206= NP_001374508.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform 2 NP_001374511.1:p.Leu205= NP_001374511.1:p.Leu205Val
DDB1- and CUL4-associated factor 1 isoform X3 XP_047305237.1:p.Leu206= XP_047305237.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X3 XP_047305236.1:p.Leu206= XP_047305236.1:p.Leu206Val
DDB1- and CUL4-associated factor 1 isoform X3 XP_047305235.1:p.Leu206= XP_047305235.1:p.Leu206Val
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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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4070865816 Apr 26, 2021 (155)
2 TOPMED ss4564204327 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000003.12 - 51441795 Apr 26, 2021 (155)
4 TopMed NC_000003.12 - 51441795 Apr 26, 2021 (155)
5 ALFA NC_000003.12 - 51441795 Apr 26, 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
107410730, 401581882, 1595759348, ss4070865816, ss4564204327 NC_000003.12:51441794:G:C NC_000003.12:51441794:G:C (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 rs1490982988

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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