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dbSNP Short Genetic Variations

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.

rs1484943083

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:161176994 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
C=0.000007 (1/139914, GnomAD)
C=0.00005 (1/18520, ALFA) (+ 1 more)
C=0.0002 (1/4480, Estonian)
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 18520 T=0.99995 C=0.00005 0.999892 0.0 0.000108 0
European Sub 14152 T=0.99993 C=0.00007 0.999859 0.0 0.000141 0
African Sub 2898 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 T=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 T=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 504 T=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 T=0.999996 C=0.000004
gnomAD - Genomes Global Study-wide 139914 T=0.999993 C=0.000007
gnomAD - Genomes European Sub 75798 T=0.99999 C=0.00001
gnomAD - Genomes African Sub 41898 T=1.00000 C=0.00000
gnomAD - Genomes American Sub 13624 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2142 T=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 18520 T=0.99995 C=0.00005
Allele Frequency Aggregator European Sub 14152 T=0.99993 C=0.00007
Allele Frequency Aggregator African Sub 2898 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 C=0.000
Allele Frequency Aggregator Other Sub 504 T=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 C=0.00
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9998 C=0.0002
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.161176994T>C
GRCh37.p13 chr 1 NC_000001.10:g.161146784T>C
PPOX RefSeqGene (LRG_1078) NG_012877.2:g.15604T>C
B4GALT3 RefSeqGene NG_011480.1:g.5531A>G
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.-181-415…

NM_001199873.1:c.-181-415A>G

N/A Intron Variant
B4GALT3 transcript variant 3 NM_001199874.1:c.-111+429…

NM_001199874.1:c.-111+429A>G

N/A Intron Variant
B4GALT3 transcript variant 2 NM_003779.4:c.-160-415A>G N/A Intron Variant
B4GALT3 transcript variant X5 XM_011510093.3:c.-160-415…

XM_011510093.3:c.-160-415A>G

N/A Intron Variant
B4GALT3 transcript variant X6 XM_017002714.3:c.-181-415…

XM_017002714.3:c.-181-415A>G

N/A Intron Variant
B4GALT3 transcript variant X4 XM_024450541.2:c.-182+176…

XM_024450541.2:c.-182+176A>G

N/A Intron Variant
B4GALT3 transcript variant X3 XM_047433399.1:c.-161+176…

XM_047433399.1:c.-161+176A>G

N/A Intron Variant
B4GALT3 transcript variant X1 XM_005245566.3:c.-243= N/A 5 Prime UTR Variant
B4GALT3 transcript variant X2 XM_024450540.2:c.-264= N/A 5 Prime UTR Variant
B4GALT3 transcript variant X7 XM_047433401.1:c.-243= N/A 5 Prime UTR Variant
B4GALT3 transcript variant X8 XM_047433402.1:c.-264= 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 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.1523T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X1 XP_011507965.1:p.Leu508Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X2 XM_011509664.2:c.1508T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X2 XP_011507966.1:p.Leu503Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X3 XM_011509665.3:c.1523T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X3 XP_011507967.1:p.Leu508Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X4 XM_047423569.1:c.1508T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X4 XP_047279525.1:p.Leu503Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X5 XM_011509667.3:c.1409T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X5 XP_011507969.1:p.Leu470Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X6 XM_011509668.3:c.1409T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X5 XP_011507970.1:p.Leu470Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X7 XM_047423581.1:c.1409T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X5 XP_047279537.1:p.Leu470Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X8 XM_011509670.3:c.1409T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X6 XP_011507972.1:p.Leu470Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X9 XM_005245291.5:c.1394T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X7 XP_005245348.2:p.Leu465Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X13 XM_011509673.3:c.1259T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X11 XP_011507975.1:p.Leu420Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X14 XM_011509674.3:c.1232T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X12 XP_011507976.1:p.Leu411Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X16 XM_047423592.1:c.986T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X14 XP_047279548.1:p.Leu329Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X17 XM_011509678.2:c.986T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X14 XP_011507980.1:p.Leu329Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X18 XM_005245295.4:c.986T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X14 XP_005245352.2:p.Leu329Pro L (Leu) > P (Pro) Missense Variant
PPOX transcript variant X21 XM_047423604.1:c.692T>C L [CTG] > P [CCG] Coding Sequence Variant
protoporphyrinogen oxidase isoform X16 XP_047279560.1:p.Leu231Pro L (Leu) > P (Pro) 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 T= C
GRCh38.p14 chr 1 NC_000001.11:g.161176994= NC_000001.11:g.161176994T>C
GRCh37.p13 chr 1 NC_000001.10:g.161146784= NC_000001.10:g.161146784T>C
PPOX RefSeqGene (LRG_1078) NG_012877.2:g.15604= NG_012877.2:g.15604T>C
B4GALT3 RefSeqGene NG_011480.1:g.5531= NG_011480.1:g.5531A>G
PPOX transcript variant X9 XM_005245291.5:c.1394= XM_005245291.5:c.1394T>C
PPOX transcript variant X9 XM_005245291.4:c.1394= XM_005245291.4:c.1394T>C
PPOX transcript variant X10 XM_005245291.3:c.1394= XM_005245291.3:c.1394T>C
PPOX transcript variant X2 XM_005245291.2:c.1394= XM_005245291.2:c.1394T>C
PPOX transcript variant X2 XM_005245291.1:c.1394= XM_005245291.1:c.1394T>C
PPOX transcript variant X18 XM_005245295.4:c.986= XM_005245295.4:c.986T>C
PPOX transcript variant X25 XM_005245295.3:c.986= XM_005245295.3:c.986T>C
PPOX transcript variant X6 XM_005245295.2:c.986= XM_005245295.2:c.986T>C
PPOX transcript variant X6 XM_005245295.1:c.986= XM_005245295.1:c.986T>C
PPOX transcript variant X3 XM_011509665.3:c.1523= XM_011509665.3:c.1523T>C
PPOX transcript variant X3 XM_011509665.2:c.1523= XM_011509665.2:c.1523T>C
PPOX transcript variant X3 XM_011509665.1:c.1523= XM_011509665.1:c.1523T>C
B4GALT3 transcript variant X1 XM_005245566.3:c.-243= XM_005245566.3:c.-243A>G
B4GALT3 transcript variant X1 XM_005245566.2:c.-243= XM_005245566.2:c.-243A>G
B4GALT3 transcript variant X1 XM_005245566.1:c.-243= XM_005245566.1:c.-243A>G
PPOX transcript variant X1 XM_011509663.3:c.1523= XM_011509663.3:c.1523T>C
PPOX transcript variant X1 XM_011509663.2:c.1523= XM_011509663.2:c.1523T>C
PPOX transcript variant X1 XM_011509663.1:c.1523= XM_011509663.1:c.1523T>C
PPOX transcript variant X5 XM_011509667.3:c.1409= XM_011509667.3:c.1409T>C
PPOX transcript variant X5 XM_011509667.2:c.1409= XM_011509667.2:c.1409T>C
PPOX transcript variant X5 XM_011509667.1:c.1409= XM_011509667.1:c.1409T>C
PPOX transcript variant X8 XM_011509670.3:c.1409= XM_011509670.3:c.1409T>C
PPOX transcript variant X8 XM_011509670.2:c.1409= XM_011509670.2:c.1409T>C
PPOX transcript variant X9 XM_011509670.1:c.1409= XM_011509670.1:c.1409T>C
PPOX transcript variant X6 XM_011509668.3:c.1409= XM_011509668.3:c.1409T>C
PPOX transcript variant X7 XM_011509668.2:c.1409= XM_011509668.2:c.1409T>C
PPOX transcript variant X7 XM_011509668.1:c.1409= XM_011509668.1:c.1409T>C
PPOX transcript variant X13 XM_011509673.3:c.1259= XM_011509673.3:c.1259T>C
PPOX transcript variant X15 XM_011509673.2:c.1259= XM_011509673.2:c.1259T>C
PPOX transcript variant X15 XM_011509673.1:c.1259= XM_011509673.1:c.1259T>C
PPOX transcript variant X14 XM_011509674.3:c.1232= XM_011509674.3:c.1232T>C
PPOX transcript variant X17 XM_011509674.2:c.1232= XM_011509674.2:c.1232T>C
PPOX transcript variant X16 XM_011509674.1:c.1232= XM_011509674.1:c.1232T>C
B4GALT3 transcript variant X2 XM_024450540.2:c.-264= XM_024450540.2:c.-264A>G
B4GALT3 transcript variant X2 XM_024450540.1:c.-264= XM_024450540.1:c.-264A>G
PPOX transcript variant X2 XM_011509664.2:c.1508= XM_011509664.2:c.1508T>C
PPOX transcript variant X2 XM_011509664.1:c.1508= XM_011509664.1:c.1508T>C
PPOX transcript variant X17 XM_011509678.2:c.986= XM_011509678.2:c.986T>C
PPOX transcript variant X21 XM_011509678.1:c.986= XM_011509678.1:c.986T>C
PPOX transcript variant X4 XM_047423569.1:c.1508= XM_047423569.1:c.1508T>C
B4GALT3 transcript variant X8 XM_047433402.1:c.-264= XM_047433402.1:c.-264A>G
B4GALT3 transcript variant X7 XM_047433401.1:c.-243= XM_047433401.1:c.-243A>G
PPOX transcript variant X7 XM_047423581.1:c.1409= XM_047423581.1:c.1409T>C
PPOX transcript variant X16 XM_047423592.1:c.986= XM_047423592.1:c.986T>C
PPOX transcript variant X21 XM_047423604.1:c.692= XM_047423604.1:c.692T>C
protoporphyrinogen oxidase isoform X7 XP_005245348.2:p.Leu465= XP_005245348.2:p.Leu465Pro
protoporphyrinogen oxidase isoform X14 XP_005245352.2:p.Leu329= XP_005245352.2:p.Leu329Pro
protoporphyrinogen oxidase isoform X3 XP_011507967.1:p.Leu508= XP_011507967.1:p.Leu508Pro
protoporphyrinogen oxidase isoform X1 XP_011507965.1:p.Leu508= XP_011507965.1:p.Leu508Pro
protoporphyrinogen oxidase isoform X5 XP_011507969.1:p.Leu470= XP_011507969.1:p.Leu470Pro
protoporphyrinogen oxidase isoform X6 XP_011507972.1:p.Leu470= XP_011507972.1:p.Leu470Pro
protoporphyrinogen oxidase isoform X5 XP_011507970.1:p.Leu470= XP_011507970.1:p.Leu470Pro
protoporphyrinogen oxidase isoform X11 XP_011507975.1:p.Leu420= XP_011507975.1:p.Leu420Pro
protoporphyrinogen oxidase isoform X12 XP_011507976.1:p.Leu411= XP_011507976.1:p.Leu411Pro
protoporphyrinogen oxidase isoform X2 XP_011507966.1:p.Leu503= XP_011507966.1:p.Leu503Pro
protoporphyrinogen oxidase isoform X14 XP_011507980.1:p.Leu329= XP_011507980.1:p.Leu329Pro
protoporphyrinogen oxidase isoform X4 XP_047279525.1:p.Leu503= XP_047279525.1:p.Leu503Pro
protoporphyrinogen oxidase isoform X5 XP_047279537.1:p.Leu470= XP_047279537.1:p.Leu470Pro
protoporphyrinogen oxidase isoform X14 XP_047279548.1:p.Leu329= XP_047279548.1:p.Leu329Pro
protoporphyrinogen oxidase isoform X16 XP_047279560.1:p.Leu231= XP_047279560.1:p.Leu231Pro
B4GALT3 transcript variant 1 NM_001199873.1:c.-181-415= NM_001199873.1:c.-181-415A>G
B4GALT3 transcript variant 3 NM_001199874.1:c.-111+429= NM_001199874.1:c.-111+429A>G
B4GALT3 transcript variant 2 NM_003779.3:c.-160-415= NM_003779.3:c.-160-415A>G
B4GALT3 transcript variant 2 NM_003779.4:c.-160-415= NM_003779.4:c.-160-415A>G
B4GALT3 transcript variant X2 XM_005245567.1:c.-160-415= XM_005245567.1:c.-160-415A>G
B4GALT3 transcript variant X5 XM_011510093.3:c.-160-415= XM_011510093.3:c.-160-415A>G
B4GALT3 transcript variant X6 XM_017002714.3:c.-181-415= XM_017002714.3:c.-181-415A>G
B4GALT3 transcript variant X4 XM_024450541.2:c.-182+176= XM_024450541.2:c.-182+176A>G
B4GALT3 transcript variant X3 XM_047433399.1:c.-161+176= XM_047433399.1:c.-161+176A>G
protoporphyrinogen oxidase isoform X2 XP_005245348.1:p.Leu465= XP_005245348.1:p.Leu465Pro
protoporphyrinogen oxidase isoform X6 XP_005245352.1:p.Leu329= XP_005245352.1:p.Leu329Pro
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#.

5 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2732004270 Nov 08, 2017 (151)
2 GNOMAD ss2746482645 Nov 08, 2017 (151)
3 GNOMAD ss2761845275 Nov 08, 2017 (151)
4 EGCUT_WGS ss3655769453 Jul 12, 2019 (153)
5 TOPMED ss4469945298 Apr 25, 2021 (155)
6 Genetic variation in the Estonian population NC_000001.10 - 161146784 Oct 11, 2018 (152)
7 gnomAD - Genomes NC_000001.11 - 161176994 Apr 25, 2021 (155)
8 TopMed NC_000001.11 - 161176994 Apr 25, 2021 (155)
9 ALFA NC_000001.11 - 161176994 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
1507701, ss2732004270, ss2746482645, ss2761845275, ss3655769453 NC_000001.10:161146783:T:C NC_000001.11:161176993:T:C (self)
28401106, 33551633, 8745922141, ss4469945298 NC_000001.11:161176993:T:C NC_000001.11:161176993:T:C (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 rs1484943083

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