Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1481155407

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:161177400 (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=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PPOX : Missense Variant
B4GALT3 : Intron 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
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 1 NC_000001.11:g.161177400C>T
GRCh37.p13 chr 1 NC_000001.10:g.161147190C>T
PPOX RefSeqGene (LRG_1078) NG_012877.2:g.16010C>T
B4GALT3 RefSeqGene NG_011480.1:g.5125G>A
Gene: B4GALT3, beta-1,4-galactosyltransferase 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
B4GALT3 transcript variant 1 NM_001199873.1:c.-182+23G…

NM_001199873.1:c.-182+23G>A

 		N/A Intron Variant
B4GALT3 transcript variant 3 NM_001199874.1:c.-111+23G…

NM_001199874.1:c.-111+23G>A

 		N/A Intron Variant
B4GALT3 transcript variant 2 NM_003779.4:c.-161+23G>A N/A Intron Variant
B4GALT3 transcript variant X1 XM_005245566.3:c.-356+23G…

XM_005245566.3:c.-356+23G>A

 		N/A Intron Variant
B4GALT3 transcript variant X5 XM_011510093.3:c.-161+23G…

XM_011510093.3:c.-161+23G>A

 		N/A Intron Variant
B4GALT3 transcript variant X6 XM_017002714.3:c.-182+23G…

XM_017002714.3:c.-182+23G>A

 		N/A Intron Variant
B4GALT3 transcript variant X2 XM_024450540.2:c.-377+23G…

XM_024450540.2:c.-377+23G>A

 		N/A Intron Variant
B4GALT3 transcript variant X7 XM_047433401.1:c.-356+23G…

XM_047433401.1:c.-356+23G>A

 		N/A Intron Variant
B4GALT3 transcript variant X8 XM_047433402.1:c.-377+23G…

XM_047433402.1:c.-377+23G>A

 		N/A Intron Variant
B4GALT3 transcript variant X3 XM_047433399.1:c.-391= N/A 5 Prime UTR Variant
B4GALT3 transcript variant X4 XM_024450541.2:c.-412= N/A 5 Prime UTR Variant
Gene: PPOX, protoporphyrinogen oxidase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PPOX transcript variant 1 NM_000309.5:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant 2 NM_001122764.3:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant 3 NM_001350128.2:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant 4 NM_001350129.2:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant 5 NM_001350130.2:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant 6 NM_001350131.2:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant 7 NM_001365398.1:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant 8 NM_001365399.1:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant 9 NM_001365400.1:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant 10 NM_001365401.1:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant X3 XM_011509665.3:c.*318= N/A 3 Prime UTR Variant
PPOX transcript variant X4 XM_047423569.1:c.*318= N/A 3 Prime UTR Variant
PPOX transcript variant X10 XM_006711404.5:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant X11 XM_011509671.2:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant X12 XM_011509672.4:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant X20 XM_017001566.3:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant X15 XM_024447864.2:c. N/A Genic Downstream Transcript Variant
PPOX transcript variant X1 XM_011509663.3:c.1541C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X1 XP_011507965.1:p.Ser514Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X2 XM_011509664.2:c.1526C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X2 XP_011507966.1:p.Ser509Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X5 XM_011509667.3:c.1427C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X5 XP_011507969.1:p.Ser476Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X6 XM_011509668.3:c.1427C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X5 XP_011507970.1:p.Ser476Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X7 XM_047423581.1:c.1427C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X5 XP_047279537.1:p.Ser476Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X8 XM_011509670.3:c.1427C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X6 XP_011507972.1:p.Ser476Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X9 XM_005245291.5:c.1412C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X7 XP_005245348.2:p.Ser471Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X13 XM_011509673.3:c.1277C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X11 XP_011507975.1:p.Ser426Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X14 XM_011509674.3:c.1250C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X12 XP_011507976.1:p.Ser417Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X16 XM_047423592.1:c.1004C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X14 XP_047279548.1:p.Ser335Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X17 XM_011509678.2:c.1004C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X14 XP_011507980.1:p.Ser335Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X18 XM_005245295.4:c.1004C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X14 XP_005245352.2:p.Ser335Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X21 XM_047423604.1:c.710C>T S [TCG] > L [TTG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X16 XP_047279560.1:p.Ser237Leu S (Ser) > L (Leu) Missense Variant
PPOX transcript variant X19 XR_007061329.1: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 C= T
GRCh38.p14 chr 1 NC_000001.11:g.161177400= NC_000001.11:g.161177400C>T
GRCh37.p13 chr 1 NC_000001.10:g.161147190= NC_000001.10:g.161147190C>T
PPOX RefSeqGene (LRG_1078) NG_012877.2:g.16010= NG_012877.2:g.16010C>T
B4GALT3 RefSeqGene NG_011480.1:g.5125= NG_011480.1:g.5125G>A
PPOX transcript variant X9 XM_005245291.5:c.1412= XM_005245291.5:c.1412C>T
PPOX transcript variant X9 XM_005245291.4:c.1412= XM_005245291.4:c.1412C>T
PPOX transcript variant X10 XM_005245291.3:c.1412= XM_005245291.3:c.1412C>T
PPOX transcript variant X18 XM_005245295.4:c.1004= XM_005245295.4:c.1004C>T
PPOX transcript variant X25 XM_005245295.3:c.1004= XM_005245295.3:c.1004C>T
PPOX transcript variant X3 XM_011509665.3:c.*318= XM_011509665.3:c.*318C>T
PPOX transcript variant X3 XM_011509665.2:c.*318= XM_011509665.2:c.*318C>T
PPOX transcript variant X1 XM_011509663.3:c.1541= XM_011509663.3:c.1541C>T
PPOX transcript variant X1 XM_011509663.2:c.1541= XM_011509663.2:c.1541C>T
PPOX transcript variant X1 XM_011509663.1:c.1541= XM_011509663.1:c.1541C>T
PPOX transcript variant X5 XM_011509667.3:c.1427= XM_011509667.3:c.1427C>T
PPOX transcript variant X5 XM_011509667.2:c.1427= XM_011509667.2:c.1427C>T
PPOX transcript variant X5 XM_011509667.1:c.1427= XM_011509667.1:c.1427C>T
PPOX transcript variant X8 XM_011509670.3:c.1427= XM_011509670.3:c.1427C>T
PPOX transcript variant X8 XM_011509670.2:c.1427= XM_011509670.2:c.1427C>T
PPOX transcript variant X9 XM_011509670.1:c.1427= XM_011509670.1:c.1427C>T
PPOX transcript variant X6 XM_011509668.3:c.1427= XM_011509668.3:c.1427C>T
PPOX transcript variant X7 XM_011509668.2:c.1427= XM_011509668.2:c.1427C>T
PPOX transcript variant X7 XM_011509668.1:c.1427= XM_011509668.1:c.1427C>T
PPOX transcript variant X13 XM_011509673.3:c.1277= XM_011509673.3:c.1277C>T
PPOX transcript variant X15 XM_011509673.2:c.1277= XM_011509673.2:c.1277C>T
PPOX transcript variant X15 XM_011509673.1:c.1277= XM_011509673.1:c.1277C>T
PPOX transcript variant X14 XM_011509674.3:c.1250= XM_011509674.3:c.1250C>T
PPOX transcript variant X17 XM_011509674.2:c.1250= XM_011509674.2:c.1250C>T
PPOX transcript variant X16 XM_011509674.1:c.1250= XM_011509674.1:c.1250C>T
PPOX transcript variant X2 XM_011509664.2:c.1526= XM_011509664.2:c.1526C>T
PPOX transcript variant X2 XM_011509664.1:c.1526= XM_011509664.1:c.1526C>T
B4GALT3 transcript variant X4 XM_024450541.2:c.-412= XM_024450541.2:c.-412G>A
PPOX transcript variant X17 XM_011509678.2:c.1004= XM_011509678.2:c.1004C>T
PPOX transcript variant X21 XM_011509678.1:c.1004= XM_011509678.1:c.1004C>T
PPOX transcript variant X4 XM_047423569.1:c.*318= XM_047423569.1:c.*318C>T
B4GALT3 transcript variant X3 XM_047433399.1:c.-391= XM_047433399.1:c.-391G>A
PPOX transcript variant X7 XM_047423581.1:c.1427= XM_047423581.1:c.1427C>T
PPOX transcript variant X16 XM_047423592.1:c.1004= XM_047423592.1:c.1004C>T
PPOX transcript variant X21 XM_047423604.1:c.710= XM_047423604.1:c.710C>T
protoporphyrinogen oxidase isoform X7 XP_005245348.2:p.Ser471= XP_005245348.2:p.Ser471Leu
protoporphyrinogen oxidase isoform X14 XP_005245352.2:p.Ser335= XP_005245352.2:p.Ser335Leu
protoporphyrinogen oxidase isoform X1 XP_011507965.1:p.Ser514= XP_011507965.1:p.Ser514Leu
protoporphyrinogen oxidase isoform X5 XP_011507969.1:p.Ser476= XP_011507969.1:p.Ser476Leu
protoporphyrinogen oxidase isoform X6 XP_011507972.1:p.Ser476= XP_011507972.1:p.Ser476Leu
protoporphyrinogen oxidase isoform X5 XP_011507970.1:p.Ser476= XP_011507970.1:p.Ser476Leu
protoporphyrinogen oxidase isoform X11 XP_011507975.1:p.Ser426= XP_011507975.1:p.Ser426Leu
protoporphyrinogen oxidase isoform X12 XP_011507976.1:p.Ser417= XP_011507976.1:p.Ser417Leu
protoporphyrinogen oxidase isoform X2 XP_011507966.1:p.Ser509= XP_011507966.1:p.Ser509Leu
protoporphyrinogen oxidase isoform X14 XP_011507980.1:p.Ser335= XP_011507980.1:p.Ser335Leu
protoporphyrinogen oxidase isoform X5 XP_047279537.1:p.Ser476= XP_047279537.1:p.Ser476Leu
protoporphyrinogen oxidase isoform X14 XP_047279548.1:p.Ser335= XP_047279548.1:p.Ser335Leu
protoporphyrinogen oxidase isoform X16 XP_047279560.1:p.Ser237= XP_047279560.1:p.Ser237Leu
B4GALT3 transcript variant 1 NM_001199873.1:c.-182+23= NM_001199873.1:c.-182+23G>A
B4GALT3 transcript variant 3 NM_001199874.1:c.-111+23= NM_001199874.1:c.-111+23G>A
B4GALT3 transcript variant 2 NM_003779.3:c.-161+23= NM_003779.3:c.-161+23G>A
B4GALT3 transcript variant 2 NM_003779.4:c.-161+23= NM_003779.4:c.-161+23G>A
B4GALT3 transcript variant X1 XM_005245566.1:c.-356+23= XM_005245566.1:c.-356+23G>A
B4GALT3 transcript variant X1 XM_005245566.3:c.-356+23= XM_005245566.3:c.-356+23G>A
B4GALT3 transcript variant X2 XM_005245567.1:c.-161+23= XM_005245567.1:c.-161+23G>A
B4GALT3 transcript variant X5 XM_011510093.3:c.-161+23= XM_011510093.3:c.-161+23G>A
B4GALT3 transcript variant X6 XM_017002714.3:c.-182+23= XM_017002714.3:c.-182+23G>A
B4GALT3 transcript variant X2 XM_024450540.2:c.-377+23= XM_024450540.2:c.-377+23G>A
B4GALT3 transcript variant X7 XM_047433401.1:c.-356+23= XM_047433401.1:c.-356+23G>A
B4GALT3 transcript variant X8 XM_047433402.1:c.-377+23= XM_047433402.1:c.-377+23G>A
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 TOPMED ss4469945424 Apr 25, 2021 (155)
2 TopMed NC_000001.11 - 161177400 Apr 25, 2021 (155)
3 ALFA NC_000001.11 - 161177400 Apr 25, 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
33551759, 6379808346, ss4469945424 NC_000001.11:161177399:C:T NC_000001.11:161177399: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 rs1481155407

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