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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.

rs1449055513

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:75896702 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.000007 (1/139548, GnomAD)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TRIM65 : 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 14050 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=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 C=0.999996 T=0.000004
gnomAD - Genomes Global Study-wide 139548 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75548 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 41832 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13582 C=0.99993 T=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3310 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2142 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=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 17 NC_000017.11:g.75896702C>T
GRCh37.p13 chr 17 NC_000017.10:g.73892783C>T
Gene: TRIM65, tripartite motif containing 65 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TRIM65 transcript variant 1 NM_173547.4:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform 1 NP_775818.2:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant 2 NM_001256124.2:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform 2 NP_001243053.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X1 XM_047435580.1:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X1 XP_047291536.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X2 XM_047435581.1:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X2 XP_047291537.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X3 XM_006721760.4:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X3 XP_006721823.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X4 XM_006721761.4:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X4 XP_006721824.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X5 XM_011524499.3:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X5 XP_011522801.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X6 XM_011524500.3:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X6 XP_011522802.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X7 XM_047435583.1:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X7 XP_047291539.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X8 XM_011524501.3:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X8 XP_011522803.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X9 XM_011524502.3:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X9 XP_011522804.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X10 XM_047435584.1:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X10 XP_047291540.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X11 XM_047435585.1:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X11 XP_047291541.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X12 XM_011524503.3:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X12 XP_011522805.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X14 XM_017024344.2:c.236G>A R [CGG] > Q [CAG] Coding Sequence Variant
E3 ubiquitin-protein ligase TRIM65 isoform X13 XP_016879833.1:p.Arg79Gln R (Arg) > Q (Gln) Missense Variant
TRIM65 transcript variant X13 XR_934419.3:n.250G>A 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 C= T
GRCh38.p14 chr 17 NC_000017.11:g.75896702= NC_000017.11:g.75896702C>T
GRCh37.p13 chr 17 NC_000017.10:g.73892783= NC_000017.10:g.73892783C>T
TRIM65 transcript variant X3 XM_006721760.4:c.236= XM_006721760.4:c.236G>A
TRIM65 transcript variant X1 XM_006721760.3:c.236= XM_006721760.3:c.236G>A
TRIM65 transcript variant X1 XM_006721760.2:c.236= XM_006721760.2:c.236G>A
TRIM65 transcript variant X1 XM_006721760.1:c.236= XM_006721760.1:c.236G>A
TRIM65 transcript variant 1 NM_173547.4:c.236= NM_173547.4:c.236G>A
TRIM65 transcript variant 1 NM_173547.3:c.236= NM_173547.3:c.236G>A
TRIM65 transcript variant X4 XM_006721761.4:c.236= XM_006721761.4:c.236G>A
TRIM65 transcript variant X2 XM_006721761.3:c.236= XM_006721761.3:c.236G>A
TRIM65 transcript variant X2 XM_006721761.2:c.236= XM_006721761.2:c.236G>A
TRIM65 transcript variant X2 XM_006721761.1:c.236= XM_006721761.1:c.236G>A
TRIM65 transcript variant X12 XM_011524503.3:c.236= XM_011524503.3:c.236G>A
TRIM65 transcript variant X8 XM_011524503.2:c.236= XM_011524503.2:c.236G>A
TRIM65 transcript variant X7 XM_011524503.1:c.236= XM_011524503.1:c.236G>A
TRIM65 transcript variant X5 XM_011524499.3:c.236= XM_011524499.3:c.236G>A
TRIM65 transcript variant X3 XM_011524499.2:c.236= XM_011524499.2:c.236G>A
TRIM65 transcript variant X3 XM_011524499.1:c.236= XM_011524499.1:c.236G>A
TRIM65 transcript variant X8 XM_011524501.3:c.236= XM_011524501.3:c.236G>A
TRIM65 transcript variant X5 XM_011524501.2:c.236= XM_011524501.2:c.236G>A
TRIM65 transcript variant X5 XM_011524501.1:c.236= XM_011524501.1:c.236G>A
TRIM65 transcript variant X13 XR_934419.3:n.250= XR_934419.3:n.250G>A
TRIM65 transcript variant X9 XR_934419.2:n.307= XR_934419.2:n.307G>A
TRIM65 transcript variant X8 XR_934419.1:n.296= XR_934419.1:n.296G>A
TRIM65 transcript variant X6 XM_011524500.3:c.236= XM_011524500.3:c.236G>A
TRIM65 transcript variant X4 XM_011524500.2:c.236= XM_011524500.2:c.236G>A
TRIM65 transcript variant X4 XM_011524500.1:c.236= XM_011524500.1:c.236G>A
TRIM65 transcript variant X9 XM_011524502.3:c.236= XM_011524502.3:c.236G>A
TRIM65 transcript variant X6 XM_011524502.2:c.236= XM_011524502.2:c.236G>A
TRIM65 transcript variant X6 XM_011524502.1:c.236= XM_011524502.1:c.236G>A
TRIM65 transcript variant 2 NM_001256124.2:c.236= NM_001256124.2:c.236G>A
TRIM65 transcript variant 2 NM_001256124.1:c.236= NM_001256124.1:c.236G>A
TRIM65 transcript variant X14 XM_017024344.2:c.236= XM_017024344.2:c.236G>A
TRIM65 transcript variant X10 XM_017024344.1:c.236= XM_017024344.1:c.236G>A
TRIM65 transcript variant X1 XM_047435580.1:c.236= XM_047435580.1:c.236G>A
TRIM65 transcript variant X2 XM_047435581.1:c.236= XM_047435581.1:c.236G>A
TRIM65 transcript variant X7 XM_047435583.1:c.236= XM_047435583.1:c.236G>A
TRIM65 transcript variant X10 XM_047435584.1:c.236= XM_047435584.1:c.236G>A
TRIM65 transcript variant X11 XM_047435585.1:c.236= XM_047435585.1:c.236G>A
E3 ubiquitin-protein ligase TRIM65 isoform X3 XP_006721823.1:p.Arg79= XP_006721823.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform 1 NP_775818.2:p.Arg79= NP_775818.2:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform X4 XP_006721824.1:p.Arg79= XP_006721824.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform X12 XP_011522805.1:p.Arg79= XP_011522805.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform X5 XP_011522801.1:p.Arg79= XP_011522801.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform X8 XP_011522803.1:p.Arg79= XP_011522803.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform X6 XP_011522802.1:p.Arg79= XP_011522802.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform X9 XP_011522804.1:p.Arg79= XP_011522804.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform 2 NP_001243053.1:p.Arg79= NP_001243053.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform X13 XP_016879833.1:p.Arg79= XP_016879833.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform X1 XP_047291536.1:p.Arg79= XP_047291536.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform X2 XP_047291537.1:p.Arg79= XP_047291537.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform X7 XP_047291539.1:p.Arg79= XP_047291539.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform X10 XP_047291540.1:p.Arg79= XP_047291540.1:p.Arg79Gln
E3 ubiquitin-protein ligase TRIM65 isoform X11 XP_047291541.1:p.Arg79= XP_047291541.1:p.Arg79Gln
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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4315761311 Apr 27, 2021 (155)
2 TOPMED ss5044041708 Apr 27, 2021 (155)
3 gnomAD - Genomes NC_000017.11 - 75896702 Apr 27, 2021 (155)
4 TopMed NC_000017.11 - 75896702 Apr 27, 2021 (155)
5 ALFA NC_000017.11 - 75896702 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
514046411, 259587370, 12728552549, ss4315761311, ss5044041708 NC_000017.11:75896701:C:T NC_000017.11:75896701:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1449055513

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
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d