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

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.

rs544733995

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:96776410 (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>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000015 (4/264690, TOPMED)
A=0.000180 (45/249896, GnomAD_exome)
A=0.000007 (1/140220, GnomAD) (+ 5 more)
A=0.000231 (28/121262, ExAC)
A=0.00001 (1/78702, PAGE_STUDY)
A=0.00004 (1/24068, ALFA)
A=0.0019 (12/6404, 1000G_30x)
A=0.0020 (10/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ERAP1 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 24068 G=0.99996 A=0.00004
European Sub 15964 G=1.00000 A=0.00000
African Sub 3974 G=1.0000 A=0.0000
African Others Sub 122 G=1.000 A=0.000
African American Sub 3852 G=1.0000 A=0.0000
Asian Sub 202 G=1.000 A=0.000
East Asian Sub 146 G=1.000 A=0.000
Other Asian Sub 56 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=1.000 A=0.000
South Asian Sub 104 G=1.000 A=0.000
Other Sub 3068 G=0.9997 A=0.0003


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=0.999985 A=0.000015
gnomAD - Exomes Global Study-wide 249896 G=0.999820 A=0.000180
gnomAD - Exomes European Sub 134852 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 48422 G=0.99907 A=0.00093
gnomAD - Exomes American Sub 34250 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16244 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10030 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6098 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140220 G=0.999993 A=0.000007
gnomAD - Genomes European Sub 75928 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 42036 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13652 G=0.99993 A=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3130 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=1.0000 A=0.0000
ExAC Global Study-wide 121262 G=0.999769 A=0.000231
ExAC Europe Sub 73284 G=0.99999 A=0.00001
ExAC Asian Sub 25108 G=0.99900 A=0.00100
ExAC American Sub 11574 G=0.99991 A=0.00009
ExAC African Sub 10390 G=1.00000 A=0.00000
ExAC Other Sub 906 G=0.999 A=0.001
The PAGE Study Global Study-wide 78702 G=0.99999 A=0.00001
The PAGE Study AfricanAmerican Sub 32516 G=1.00000 A=0.00000
The PAGE Study Mexican Sub 10810 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4230 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 G=0.999 A=0.001
Allele Frequency Aggregator Total Global 24068 G=0.99996 A=0.00004
Allele Frequency Aggregator European Sub 15964 G=1.00000 A=0.00000
Allele Frequency Aggregator African Sub 3974 G=1.0000 A=0.0000
Allele Frequency Aggregator Other Sub 3068 G=0.9997 A=0.0003
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 202 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 104 G=1.000 A=0.000
1000Genomes_30x Global Study-wide 6404 G=0.9981 A=0.0019
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=0.9900 A=0.0100
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9980 A=0.0020
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=0.990 A=0.010
1000Genomes American Sub 694 G=1.000 A=0.000
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 5 NC_000005.10:g.96776410G>A
GRCh37.p13 chr 5 NC_000005.9:g.96112114G>A
ERAP1 RefSeqGene NG_027839.2:g.164574C>T
CAST RefSeqGene NG_029490.2:g.119374G>A
Gene: ERAP1, endoplasmic reticulum aminopeptidase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ERAP1 transcript variant 2 NM_001040458.3:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform b precursor NP_001035548.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant 4 NM_001349244.2:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform a precursor NP_001336173.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant 1 NM_016442.5:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform a precursor NP_057526.3:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant 3 NM_001198541.3:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform b precursor NP_001185470.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X14 XM_047417311.1:c. N/A Genic Downstream Transcript Variant
ERAP1 transcript variant X15 XM_047417312.1:c. N/A Genic Downstream Transcript Variant
ERAP1 transcript variant X1 XM_005272016.5:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_005272073.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X2 XM_047417305.1:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273261.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X3 XM_017009581.2:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_016865070.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X4 XM_047417306.1:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273262.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X5 XM_005272015.6:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_005272072.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X6 XM_011543485.3:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_011541787.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X7 XM_047417307.1:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273263.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X8 XM_011543484.3:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_011541786.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X9 XM_011543486.4:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X2 XP_011541788.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X10 XM_047417308.1:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273264.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X11 XM_047417309.1:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273265.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X12 XM_047417310.1:c.2812C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273266.1:p.Leu938Phe L (Leu) > F (Phe) Missense Variant
ERAP1 transcript variant X13 XM_017009583.3:c.1717C>T L [CTT] > F [TTT] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X4 XP_016865072.1:p.Leu573Phe L (Leu) > F (Phe) 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= A
GRCh38.p14 chr 5 NC_000005.10:g.96776410= NC_000005.10:g.96776410G>A
GRCh37.p13 chr 5 NC_000005.9:g.96112114= NC_000005.9:g.96112114G>A
ERAP1 RefSeqGene NG_027839.2:g.164574= NG_027839.2:g.164574C>T
ERAP1 transcript variant 1 NM_016442.5:c.2812= NM_016442.5:c.2812C>T
ERAP1 transcript variant 1 NM_016442.4:c.2812= NM_016442.4:c.2812C>T
ERAP1 transcript variant 1 NM_016442.3:c.2812= NM_016442.3:c.2812C>T
ERAP1 transcript variant 3 NM_001198541.3:c.2812= NM_001198541.3:c.2812C>T
ERAP1 transcript variant 3 NM_001198541.2:c.2812= NM_001198541.2:c.2812C>T
ERAP1 transcript variant 3 NM_001198541.1:c.2812= NM_001198541.1:c.2812C>T
ERAP1 transcript variant 2 NM_001040458.3:c.2812= NM_001040458.3:c.2812C>T
ERAP1 transcript variant 2 NM_001040458.2:c.2812= NM_001040458.2:c.2812C>T
ERAP1 transcript variant 2 NM_001040458.1:c.2812= NM_001040458.1:c.2812C>T
ERAP1 transcript variant 4 NM_001349244.2:c.2812= NM_001349244.2:c.2812C>T
ERAP1 transcript variant 4 NM_001349244.1:c.2812= NM_001349244.1:c.2812C>T
CAST RefSeqGene NG_029490.2:g.119374= NG_029490.2:g.119374G>A
ERAP1 transcript variant X5 XM_005272015.6:c.2812= XM_005272015.6:c.2812C>T
ERAP1 transcript variant X1 XM_005272015.5:c.2812= XM_005272015.5:c.2812C>T
ERAP1 transcript variant X1 XM_005272015.4:c.2812= XM_005272015.4:c.2812C>T
ERAP1 transcript variant X1 XM_005272015.3:c.2812= XM_005272015.3:c.2812C>T
ERAP1 transcript variant X1 XM_005272015.2:c.2812= XM_005272015.2:c.2812C>T
ERAP1 transcript variant X1 XM_005272015.1:c.2812= XM_005272015.1:c.2812C>T
ERAP1 transcript variant X1 XM_005272016.5:c.2812= XM_005272016.5:c.2812C>T
ERAP1 transcript variant X2 XM_005272016.4:c.2812= XM_005272016.4:c.2812C>T
ERAP1 transcript variant X2 XM_005272016.3:c.2812= XM_005272016.3:c.2812C>T
ERAP1 transcript variant X2 XM_005272016.2:c.2812= XM_005272016.2:c.2812C>T
ERAP1 transcript variant X2 XM_005272016.1:c.2812= XM_005272016.1:c.2812C>T
ERAP1 transcript variant X9 XM_011543486.4:c.2812= XM_011543486.4:c.2812C>T
ERAP1 transcript variant X9 XM_011543486.3:c.2812= XM_011543486.3:c.2812C>T
ERAP1 transcript variant X9 XM_011543486.2:c.2812= XM_011543486.2:c.2812C>T
ERAP1 transcript variant X9 XM_011543486.1:c.2812= XM_011543486.1:c.2812C>T
ERAP1 transcript variant X8 XM_011543484.3:c.2812= XM_011543484.3:c.2812C>T
ERAP1 transcript variant X5 XM_011543484.2:c.2812= XM_011543484.2:c.2812C>T
ERAP1 transcript variant X7 XM_011543484.1:c.2812= XM_011543484.1:c.2812C>T
ERAP1 transcript variant X6 XM_011543485.3:c.2812= XM_011543485.3:c.2812C>T
ERAP1 transcript variant X6 XM_011543485.2:c.2812= XM_011543485.2:c.2812C>T
ERAP1 transcript variant X8 XM_011543485.1:c.2812= XM_011543485.1:c.2812C>T
ERAP1 transcript variant X13 XM_017009583.3:c.1717= XM_017009583.3:c.1717C>T
ERAP1 transcript variant X10 XM_017009583.2:c.1717= XM_017009583.2:c.1717C>T
ERAP1 transcript variant X11 XM_017009583.1:c.1717= XM_017009583.1:c.1717C>T
ERAP1 transcript variant X3 XM_017009581.2:c.2812= XM_017009581.2:c.2812C>T
ERAP1 transcript variant X7 XM_017009581.1:c.2812= XM_017009581.1:c.2812C>T
ERAP1 transcript variant X12 XM_047417310.1:c.2812= XM_047417310.1:c.2812C>T
ERAP1 transcript variant X10 XM_047417308.1:c.2812= XM_047417308.1:c.2812C>T
ERAP1 transcript variant X11 XM_047417309.1:c.2812= XM_047417309.1:c.2812C>T
ERAP1 transcript variant X7 XM_047417307.1:c.2812= XM_047417307.1:c.2812C>T
ERAP1 transcript variant X4 XM_047417306.1:c.2812= XM_047417306.1:c.2812C>T
ERAP1 transcript variant X2 XM_047417305.1:c.2812= XM_047417305.1:c.2812C>T
endoplasmic reticulum aminopeptidase 1 isoform a precursor NP_057526.3:p.Leu938= NP_057526.3:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform b precursor NP_001185470.1:p.Leu938= NP_001185470.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform b precursor NP_001035548.1:p.Leu938= NP_001035548.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform a precursor NP_001336173.1:p.Leu938= NP_001336173.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_005272072.1:p.Leu938= XP_005272072.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_005272073.1:p.Leu938= XP_005272073.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform X2 XP_011541788.1:p.Leu938= XP_011541788.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_011541786.1:p.Leu938= XP_011541786.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_011541787.1:p.Leu938= XP_011541787.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform X4 XP_016865072.1:p.Leu573= XP_016865072.1:p.Leu573Phe
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_016865070.1:p.Leu938= XP_016865070.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273266.1:p.Leu938= XP_047273266.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273264.1:p.Leu938= XP_047273264.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273265.1:p.Leu938= XP_047273265.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273263.1:p.Leu938= XP_047273263.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273262.1:p.Leu938= XP_047273262.1:p.Leu938Phe
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273261.1:p.Leu938= XP_047273261.1:p.Leu938Phe
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#.

17 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSIP ss926166779 Aug 21, 2014 (142)
2 1000GENOMES ss1316172225 Aug 21, 2014 (142)
3 EVA_EXAC ss1687891105 Apr 01, 2015 (144)
4 ILLUMINA ss1958805748 Feb 12, 2016 (147)
5 HUMAN_LONGEVITY ss2275968516 Dec 20, 2016 (150)
6 GNOMAD ss2735130759 Nov 08, 2017 (151)
7 ILLUMINA ss3022509723 Nov 08, 2017 (151)
8 OMUKHERJEE_ADBS ss3646322485 Oct 12, 2018 (152)
9 ILLUMINA ss3653007399 Oct 12, 2018 (152)
10 ILLUMINA ss3726252151 Jul 13, 2019 (153)
11 PAGE_CC ss3771217644 Jul 13, 2019 (153)
12 GNOMAD ss4109313102 Apr 26, 2021 (155)
13 TOPMED ss4669569631 Apr 26, 2021 (155)
14 1000G_HIGH_COVERAGE ss5264925179 Oct 17, 2022 (156)
15 EVA ss5359303310 Oct 17, 2022 (156)
16 1000G_HIGH_COVERAGE ss5549082804 Oct 17, 2022 (156)
17 EVA ss5895270216 Oct 17, 2022 (156)
18 1000Genomes NC_000005.9 - 96112114 Oct 12, 2018 (152)
19 1000Genomes_30x NC_000005.10 - 96776410 Oct 17, 2022 (156)
20 ExAC NC_000005.9 - 96112114 Oct 12, 2018 (152)
21 gnomAD - Genomes NC_000005.10 - 96776410 Apr 26, 2021 (155)
22 gnomAD - Exomes NC_000005.9 - 96112114 Jul 13, 2019 (153)
23 The PAGE Study NC_000005.10 - 96776410 Jul 13, 2019 (153)
24 TopMed NC_000005.10 - 96776410 Apr 26, 2021 (155)
25 ALFA NC_000005.10 - 96776410 Apr 26, 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
27812854, 7889301, 4250877, ss926166779, ss1316172225, ss1687891105, ss1958805748, ss2735130759, ss3022509723, ss3646322485, ss3653007399, ss5359303310 NC_000005.9:96112113:G:A NC_000005.10:96776409:G:A (self)
36608739, 196743061, 439113, 506947188, 12885317251, ss2275968516, ss3726252151, ss3771217644, ss4109313102, ss4669569631, ss5264925179, ss5549082804, ss5895270216 NC_000005.10:96776409:G:A NC_000005.10:96776409:G:A (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 rs544733995

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.post761+d5e8e07