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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.

rs1455459728

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:4461953 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/246712, GnomAD_exome)
T=0.00005 (1/21160, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NMRAL1 : 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 21160 G=0.99995 T=0.00005 0.999905 0.0 9.5e-05 0
European Sub 16708 G=1.00000 T=0.00000 1.0 0.0 0.0 N/A
African Sub 20 G=1.00 T=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 G=0 T=0 0 0 0 N/A
African American Sub 20 G=1.00 T=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 G=0 T=0 0 0 0 N/A
East Asian Sub 0 G=0 T=0 0 0 0 N/A
Other Asian Sub 0 G=0 T=0 0 0 0 N/A
Latin American 1 Sub 354 G=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 18 G=1.00 T=0.00 1.0 0.0 0.0 N/A
South Asian Sub 0 G=0 T=0 0 0 0 N/A
Other Sub 4060 G=0.9998 T=0.0002 0.999507 0.0 0.000493 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").

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Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 246712 G=0.999996 C=0.000004
gnomAD - Exomes European Sub 132658 G=0.999992 C=0.000008
gnomAD - Exomes Asian Sub 48342 G=1.00000 C=0.00000
gnomAD - Exomes American Sub 33746 G=1.00000 C=0.00000
gnomAD - Exomes African Sub 16202 G=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9760 G=1.0000 C=0.0000
gnomAD - Exomes Other Sub 6004 G=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 21160 G=0.99995 T=0.00005
Allele Frequency Aggregator European Sub 16708 G=1.00000 T=0.00000
Allele Frequency Aggregator Other Sub 4060 G=0.9998 T=0.0002
Allele Frequency Aggregator Latin American 1 Sub 354 G=1.000 T=0.000
Allele Frequency Aggregator African Sub 20 G=1.00 T=0.00
Allele Frequency Aggregator Latin American 2 Sub 18 G=1.00 T=0.00
Allele Frequency Aggregator South Asian Sub 0 G=0 T=0
Allele Frequency Aggregator Asian Sub 0 G=0 T=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 16 NC_000016.10:g.4461953G>C
GRCh38.p14 chr 16 NC_000016.10:g.4461953G>T
GRCh37.p13 chr 16 NC_000016.9:g.4511954G>C
GRCh37.p13 chr 16 NC_000016.9:g.4511954G>T
GRCh38.p14 chr 16 alt locus HSCHR16_3_CTG1 NT_187608.1:g.164276G>C
GRCh38.p14 chr 16 alt locus HSCHR16_3_CTG1 NT_187608.1:g.164276G>T
Gene: NMRAL1, NmrA like redox sensor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NMRAL1 transcript variant 6 NM_001351996.2:c.536C>G S [TCC] > C [TGC] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform 3 NP_001338925.1:p.Ser179Cys S (Ser) > C (Cys) Missense Variant
NMRAL1 transcript variant 6 NM_001351996.2:c.536C>A S [TCC] > Y [TAC] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform 3 NP_001338925.1:p.Ser179Tyr S (Ser) > Y (Tyr) Missense Variant
NMRAL1 transcript variant 5 NM_001351995.2:c.538C>G P [CCT] > A [GCT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform 2 NP_001338924.1:p.Pro180Ala P (Pro) > A (Ala) Missense Variant
NMRAL1 transcript variant 5 NM_001351995.2:c.538C>A P [CCT] > T [ACT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform 2 NP_001338924.1:p.Pro180Thr P (Pro) > T (Thr) Missense Variant
NMRAL1 transcript variant 1 NM_020677.6:c.727C>G P [CCT] > A [GCT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform 1 NP_065728.1:p.Pro243Ala P (Pro) > A (Ala) Missense Variant
NMRAL1 transcript variant 1 NM_020677.6:c.727C>A P [CCT] > T [ACT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform 1 NP_065728.1:p.Pro243Thr P (Pro) > T (Thr) Missense Variant
NMRAL1 transcript variant 2 NM_001305141.3:c.727C>G P [CCT] > A [GCT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform 1 NP_001292070.1:p.Pro243Ala P (Pro) > A (Ala) Missense Variant
NMRAL1 transcript variant 2 NM_001305141.3:c.727C>A P [CCT] > T [ACT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform 1 NP_001292070.1:p.Pro243Thr P (Pro) > T (Thr) Missense Variant
NMRAL1 transcript variant 3 NM_001305142.3:c.727C>G P [CCT] > A [GCT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform 1 NP_001292071.1:p.Pro243Ala P (Pro) > A (Ala) Missense Variant
NMRAL1 transcript variant 3 NM_001305142.3:c.727C>A P [CCT] > T [ACT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform 1 NP_001292071.1:p.Pro243Thr P (Pro) > T (Thr) Missense Variant
NMRAL1 transcript variant 4 NM_001351994.2:c.727C>G P [CCT] > A [GCT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform 1 NP_001338923.1:p.Pro243Ala P (Pro) > A (Ala) Missense Variant
NMRAL1 transcript variant 4 NM_001351994.2:c.727C>A P [CCT] > T [ACT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform 1 NP_001338923.1:p.Pro243Thr P (Pro) > T (Thr) Missense Variant
NMRAL1 transcript variant 7 NR_147845.2:n.926C>G N/A Non Coding Transcript Variant
NMRAL1 transcript variant 7 NR_147845.2:n.926C>A N/A Non Coding Transcript Variant
NMRAL1 transcript variant X3 XM_017023486.3:c. N/A Genic Downstream Transcript Variant
NMRAL1 transcript variant X6 XM_017023488.3:c. N/A Genic Downstream Transcript Variant
NMRAL1 transcript variant X4 XM_047434383.1:c. N/A Genic Downstream Transcript Variant
NMRAL1 transcript variant X5 XM_047434384.1:c. N/A Genic Downstream Transcript Variant
NMRAL1 transcript variant X1 XM_047434381.1:c.727C>G P [CCT] > A [GCT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform X1 XP_047290337.1:p.Pro243Ala P (Pro) > A (Ala) Missense Variant
NMRAL1 transcript variant X1 XM_047434381.1:c.727C>A P [CCT] > T [ACT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform X1 XP_047290337.1:p.Pro243Thr P (Pro) > T (Thr) Missense Variant
NMRAL1 transcript variant X2 XM_047434382.1:c.727C>G P [CCT] > A [GCT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform X1 XP_047290338.1:p.Pro243Ala P (Pro) > A (Ala) Missense Variant
NMRAL1 transcript variant X2 XM_047434382.1:c.727C>A P [CCT] > T [ACT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform X1 XP_047290338.1:p.Pro243Thr P (Pro) > T (Thr) Missense Variant
NMRAL1 transcript variant X7 XM_047434385.1:c.535C>G P [CCT] > A [GCT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform X4 XP_047290341.1:p.Pro179Ala P (Pro) > A (Ala) Missense Variant
NMRAL1 transcript variant X7 XM_047434385.1:c.535C>A P [CCT] > T [ACT] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform X4 XP_047290341.1:p.Pro179Thr P (Pro) > T (Thr) Missense Variant
NMRAL1 transcript variant X8 XM_047434386.1:c.536C>G S [TCC] > C [TGC] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform X5 XP_047290342.1:p.Ser179Cys S (Ser) > C (Cys) Missense Variant
NMRAL1 transcript variant X8 XM_047434386.1:c.536C>A S [TCC] > Y [TAC] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform X5 XP_047290342.1:p.Ser179Tyr S (Ser) > Y (Tyr) Missense Variant
NMRAL1 transcript variant X9 XM_047434387.1:c.536C>G S [TCC] > C [TGC] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform X5 XP_047290343.1:p.Ser179Cys S (Ser) > C (Cys) Missense Variant
NMRAL1 transcript variant X9 XM_047434387.1:c.536C>A S [TCC] > Y [TAC] Coding Sequence Variant
nmrA-like family domain-containing protein 1 isoform X5 XP_047290343.1:p.Ser179Tyr S (Ser) > Y (Tyr) Missense 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 T
GRCh38.p14 chr 16 NC_000016.10:g.4461953= NC_000016.10:g.4461953G>C NC_000016.10:g.4461953G>T
GRCh37.p13 chr 16 NC_000016.9:g.4511954= NC_000016.9:g.4511954G>C NC_000016.9:g.4511954G>T
GRCh38.p14 chr 16 alt locus HSCHR16_3_CTG1 NT_187608.1:g.164276= NT_187608.1:g.164276G>C NT_187608.1:g.164276G>T
NMRAL1 transcript variant 1 NM_020677.6:c.727= NM_020677.6:c.727C>G NM_020677.6:c.727C>A
NMRAL1 transcript variant 1 NM_020677.5:c.727= NM_020677.5:c.727C>G NM_020677.5:c.727C>A
NMRAL1 transcript variant 1 NM_020677.4:c.727= NM_020677.4:c.727C>G NM_020677.4:c.727C>A
NMRAL1 transcript NM_020677.3:c.727= NM_020677.3:c.727C>G NM_020677.3:c.727C>A
NMRAL1 transcript variant 2 NM_001305141.3:c.727= NM_001305141.3:c.727C>G NM_001305141.3:c.727C>A
NMRAL1 transcript variant 2 NM_001305141.2:c.727= NM_001305141.2:c.727C>G NM_001305141.2:c.727C>A
NMRAL1 transcript variant 2 NM_001305141.1:c.727= NM_001305141.1:c.727C>G NM_001305141.1:c.727C>A
NMRAL1 transcript variant 3 NM_001305142.3:c.727= NM_001305142.3:c.727C>G NM_001305142.3:c.727C>A
NMRAL1 transcript variant 3 NM_001305142.2:c.727= NM_001305142.2:c.727C>G NM_001305142.2:c.727C>A
NMRAL1 transcript variant 3 NM_001305142.1:c.727= NM_001305142.1:c.727C>G NM_001305142.1:c.727C>A
NMRAL1 transcript variant 5 NM_001351995.2:c.538= NM_001351995.2:c.538C>G NM_001351995.2:c.538C>A
NMRAL1 transcript variant 5 NM_001351995.1:c.538= NM_001351995.1:c.538C>G NM_001351995.1:c.538C>A
NMRAL1 transcript variant 7 NR_147845.2:n.926= NR_147845.2:n.926C>G NR_147845.2:n.926C>A
NMRAL1 transcript variant 7 NR_147845.1:n.1196= NR_147845.1:n.1196C>G NR_147845.1:n.1196C>A
NMRAL1 transcript variant 6 NM_001351996.2:c.536= NM_001351996.2:c.536C>G NM_001351996.2:c.536C>A
NMRAL1 transcript variant 6 NM_001351996.1:c.536= NM_001351996.1:c.536C>G NM_001351996.1:c.536C>A
NMRAL1 transcript variant 4 NM_001351994.2:c.727= NM_001351994.2:c.727C>G NM_001351994.2:c.727C>A
NMRAL1 transcript variant 4 NM_001351994.1:c.727= NM_001351994.1:c.727C>G NM_001351994.1:c.727C>A
NMRAL1 transcript variant X2 XM_047434382.1:c.727= XM_047434382.1:c.727C>G XM_047434382.1:c.727C>A
NMRAL1 transcript variant X9 XM_047434387.1:c.536= XM_047434387.1:c.536C>G XM_047434387.1:c.536C>A
NMRAL1 transcript variant X8 XM_047434386.1:c.536= XM_047434386.1:c.536C>G XM_047434386.1:c.536C>A
NMRAL1 transcript variant X7 XM_047434385.1:c.535= XM_047434385.1:c.535C>G XM_047434385.1:c.535C>A
NMRAL1 transcript variant X1 XM_047434381.1:c.727= XM_047434381.1:c.727C>G XM_047434381.1:c.727C>A
nmrA-like family domain-containing protein 1 isoform 1 NP_065728.1:p.Pro243= NP_065728.1:p.Pro243Ala NP_065728.1:p.Pro243Thr
nmrA-like family domain-containing protein 1 isoform 1 NP_001292070.1:p.Pro243= NP_001292070.1:p.Pro243Ala NP_001292070.1:p.Pro243Thr
nmrA-like family domain-containing protein 1 isoform 1 NP_001292071.1:p.Pro243= NP_001292071.1:p.Pro243Ala NP_001292071.1:p.Pro243Thr
nmrA-like family domain-containing protein 1 isoform 2 NP_001338924.1:p.Pro180= NP_001338924.1:p.Pro180Ala NP_001338924.1:p.Pro180Thr
nmrA-like family domain-containing protein 1 isoform 3 NP_001338925.1:p.Ser179= NP_001338925.1:p.Ser179Cys NP_001338925.1:p.Ser179Tyr
nmrA-like family domain-containing protein 1 isoform 1 NP_001338923.1:p.Pro243= NP_001338923.1:p.Pro243Ala NP_001338923.1:p.Pro243Thr
nmrA-like family domain-containing protein 1 isoform X1 XP_047290338.1:p.Pro243= XP_047290338.1:p.Pro243Ala XP_047290338.1:p.Pro243Thr
nmrA-like family domain-containing protein 1 isoform X5 XP_047290343.1:p.Ser179= XP_047290343.1:p.Ser179Cys XP_047290343.1:p.Ser179Tyr
nmrA-like family domain-containing protein 1 isoform X5 XP_047290342.1:p.Ser179= XP_047290342.1:p.Ser179Cys XP_047290342.1:p.Ser179Tyr
nmrA-like family domain-containing protein 1 isoform X4 XP_047290341.1:p.Pro179= XP_047290341.1:p.Pro179Ala XP_047290341.1:p.Pro179Thr
nmrA-like family domain-containing protein 1 isoform X1 XP_047290337.1:p.Pro243= XP_047290337.1:p.Pro243Ala XP_047290337.1:p.Pro243Thr
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, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2741715257 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000016.9 - 4511954 Jul 13, 2019 (153)
3 ALFA NC_000016.10 - 4461953 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
10990504, ss2741715257 NC_000016.9:4511953:G:C NC_000016.10:4461952:G:C (self)
14508303288 NC_000016.10:4461952:G:T NC_000016.10:4461952:G: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 rs1455459728

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