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.

rs1390366271

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:120212391 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
C=0.000004 (1/249138, GnomAD_exome)
C=0.000007 (1/140256, GnomAD) (+ 1 more)
C=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PXN : Missense Variant
PXN-AS1 : Non Coding Transcript 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 G=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 G=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 G=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 G=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 496 G=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 G=0.999996 C=0.000004
gnomAD - Exomes Global Study-wide 249138 G=0.999996 C=0.000004
gnomAD - Exomes European Sub 134460 G=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 48572 G=1.00000 C=0.00000
gnomAD - Exomes American Sub 34506 G=0.99997 C=0.00003
gnomAD - Exomes African Sub 15488 G=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10060 G=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6052 G=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140256 G=0.999993 C=0.000007
gnomAD - Genomes European Sub 75952 G=1.00000 C=0.00000
gnomAD - Genomes African Sub 42034 G=1.00000 C=0.00000
gnomAD - Genomes American Sub 13664 G=0.99993 C=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2152 G=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 14050 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 C=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 12 NC_000012.12:g.120212391G>C
GRCh37.p13 chr 12 NC_000012.11:g.120650194G>C
PXN RefSeqGene NG_029820.1:g.58381C>G
Gene: PXN, paxillin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PXN transcript variant 14 NM_001385990.1:c.*211= N/A 3 Prime UTR Variant
PXN transcript variant 13 NM_001385989.1:c.*211= N/A 3 Prime UTR Variant
PXN transcript variant 12 NM_001385988.1:c.*211= N/A 3 Prime UTR Variant
PXN transcript variant 2 NM_001080855.3:c.1699C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform 2 NP_001074324.1:p.Gln567Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant 1 NM_002859.4:c.1597C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform 1 NP_002850.2:p.Gln533Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant 4 NM_025157.5:c.1198C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform 4 NP_079433.3:p.Gln400Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant 6 NM_001385982.1:c.2893C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform 6 NP_001372911.1:p.Gln965Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant 10 NM_001385986.1:c.2146C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform 10 NP_001372915.1:p.Gln716Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant 3 NM_001243756.2:c.1741C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform 3 NP_001230685.1:p.Gln581Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant 7 NM_001385983.1:c.2887C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform 7 NP_001372912.1:p.Gln963Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant 9 NM_001385985.1:c.2482C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform 9 NP_001372914.1:p.Gln828Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant 11 NM_001385987.1:c.2008C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform 11 NP_001372916.1:p.Gln670Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant 8 NM_001385984.1:c.2626C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform 8 NP_001372913.1:p.Gln876Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant 5 NM_001385981.1:c.3169C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform 5 NP_001372910.1:p.Gln1057G…

NP_001372910.1:p.Gln1057Glu

 		Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X4 XM_017019732.3:c. N/A Genic Downstream Transcript Variant
PXN transcript variant X17 XM_047429248.1:c. N/A Genic Downstream Transcript Variant
PXN transcript variant X1 XM_047429236.1:c.3331C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X1 XP_047285192.1:p.Gln1111G…

XP_047285192.1:p.Gln1111Glu

 		Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X2 XM_006719532.3:c.3313C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X2 XP_006719595.1:p.Gln1105G…

XP_006719595.1:p.Gln1105Glu

 		Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X3 XM_011538622.2:c.2914C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X3 XP_011536924.1:p.Gln972Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X6 XM_047429237.1:c.2329C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X5 XP_047285193.1:p.Gln777Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X7 XM_047429238.1:c.2185C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X6 XP_047285194.1:p.Gln729Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X8 XM_047429239.1:c.2152C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X7 XP_047285195.1:p.Gln718Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X9 XM_047429240.1:c.1843C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X8 XP_047285196.1:p.Gln615Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X10 XM_047429241.1:c.1837C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X9 XP_047285197.1:p.Gln613Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X11 XM_017019739.3:c.1759C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X10 XP_016875228.1:p.Gln587Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X12 XM_047429242.1:c.1744C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X11 XP_047285198.1:p.Gln582Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X13 XM_047429243.1:c.1735C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X12 XP_047285199.1:p.Gln579Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X14 XM_017019740.3:c.1717C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X13 XP_016875229.1:p.Gln573Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X15 XM_047429244.1:c.1702C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X14 XP_047285200.1:p.Gln568Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X16 XM_047429245.1:c.1693C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X15 XP_047285201.1:p.Gln565Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X16 XM_047429246.1:c.1693C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X15 XP_047285202.1:p.Gln565Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X18 XM_017019742.3:c.1615C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X17 XP_016875231.1:p.Gln539Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X19 XM_047429249.1:c.1600C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X18 XP_047285205.1:p.Gln534Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X20 XM_047429250.1:c.1591C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X19 XP_047285206.1:p.Gln531Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X21 XM_047429251.1:c.1444C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X20 XP_047285207.1:p.Gln482Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X22 XM_047429252.1:c.1342C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X21 XP_047285208.1:p.Gln448Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X23 XM_047429253.1:c.1300C>G Q [CAG] > E [GAG] Coding Sequence Variant
paxillin isoform X22 XP_047285209.1:p.Gln434Glu Q (Gln) > E (Glu) Missense Variant
PXN transcript variant X5 XR_002957365.2:n. N/A Genic Downstream Transcript Variant
Gene: PXN-AS1, PXN antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PXN-AS1 transcript NR_038924.1:n.326G>C 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 G= C
GRCh38.p14 chr 12 NC_000012.12:g.120212391= NC_000012.12:g.120212391G>C
GRCh37.p13 chr 12 NC_000012.11:g.120650194= NC_000012.11:g.120650194G>C
PXN RefSeqGene NG_029820.1:g.58381= NG_029820.1:g.58381C>G
PXN transcript variant 4 NM_025157.5:c.1198= NM_025157.5:c.1198C>G
PXN transcript variant 4 NM_025157.4:c.1198= NM_025157.4:c.1198C>G
PXN transcript variant 1 NM_002859.4:c.1597= NM_002859.4:c.1597C>G
PXN transcript variant 1 NM_002859.3:c.1597= NM_002859.3:c.1597C>G
PXN transcript variant 2 NM_001080855.3:c.1699= NM_001080855.3:c.1699C>G
PXN transcript variant 2 NM_001080855.2:c.1699= NM_001080855.2:c.1699C>G
PXN transcript variant 3 NM_001243756.2:c.1741= NM_001243756.2:c.1741C>G
PXN transcript variant 3 NM_001243756.1:c.1741= NM_001243756.1:c.1741C>G
PXN transcript variant 5 NM_001385981.1:c.3169= NM_001385981.1:c.3169C>G
PXN transcript variant 6 NM_001385982.1:c.2893= NM_001385982.1:c.2893C>G
PXN transcript variant 7 NM_001385983.1:c.2887= NM_001385983.1:c.2887C>G
PXN transcript variant 8 NM_001385984.1:c.2626= NM_001385984.1:c.2626C>G
PXN transcript variant 9 NM_001385985.1:c.2482= NM_001385985.1:c.2482C>G
PXN transcript variant 10 NM_001385986.1:c.2146= NM_001385986.1:c.2146C>G
PXN transcript variant 11 NM_001385987.1:c.2008= NM_001385987.1:c.2008C>G
PXN transcript variant 12 NM_001385988.1:c.*211= NM_001385988.1:c.*211C>G
PXN transcript variant 13 NM_001385989.1:c.*211= NM_001385989.1:c.*211C>G
PXN transcript variant 14 NM_001385990.1:c.*211= NM_001385990.1:c.*211C>G
PXN transcript variant X2 XM_006719532.3:c.3313= XM_006719532.3:c.3313C>G
PXN transcript variant X3 XM_006719532.2:c.3313= XM_006719532.2:c.3313C>G
PXN transcript variant X3 XM_006719532.1:c.3313= XM_006719532.1:c.3313C>G
PXN transcript variant X11 XM_017019739.3:c.1759= XM_017019739.3:c.1759C>G
PXN transcript variant X20 XM_017019739.2:c.1759= XM_017019739.2:c.1759C>G
PXN transcript variant X21 XM_017019739.1:c.1759= XM_017019739.1:c.1759C>G
PXN transcript variant X14 XM_017019740.3:c.1717= XM_017019740.3:c.1717C>G
PXN transcript variant X21 XM_017019740.2:c.1717= XM_017019740.2:c.1717C>G
PXN transcript variant X22 XM_017019740.1:c.1717= XM_017019740.1:c.1717C>G
PXN transcript variant X18 XM_017019742.3:c.1615= XM_017019742.3:c.1615C>G
PXN transcript variant X23 XM_017019742.2:c.1615= XM_017019742.2:c.1615C>G
PXN transcript variant X24 XM_017019742.1:c.1615= XM_017019742.1:c.1615C>G
PXN transcript variant X3 XM_011538622.2:c.2914= XM_011538622.2:c.2914C>G
PXN transcript variant X8 XM_011538622.1:c.2914= XM_011538622.1:c.2914C>G
LOC283458 transcript NM_176827.1:c.-69912= NM_176827.1:c.-69912G>C
PXN transcript variant X1 XM_047429236.1:c.3331= XM_047429236.1:c.3331C>G
PXN transcript variant X6 XM_047429237.1:c.2329= XM_047429237.1:c.2329C>G
PXN transcript variant 15 NM_001410986.1:c.1693= NM_001410986.1:c.1693C>G
PXN transcript variant X7 XM_047429238.1:c.2185= XM_047429238.1:c.2185C>G
PXN transcript variant X12 XM_047429242.1:c.1744= XM_047429242.1:c.1744C>G
PXN transcript variant X13 XM_047429243.1:c.1735= XM_047429243.1:c.1735C>G
PXN transcript variant X15 XM_047429244.1:c.1702= XM_047429244.1:c.1702C>G
PXN transcript variant X16 XM_047429245.1:c.1693= XM_047429245.1:c.1693C>G
PXN transcript variant X20 XM_047429250.1:c.1591= XM_047429250.1:c.1591C>G
PXN transcript variant X19 XM_047429249.1:c.1600= XM_047429249.1:c.1600C>G
PXN transcript variant X8 XM_047429239.1:c.2152= XM_047429239.1:c.2152C>G
PXN transcript variant X9 XM_047429240.1:c.1843= XM_047429240.1:c.1843C>G
PXN transcript variant X10 XM_047429241.1:c.1837= XM_047429241.1:c.1837C>G
PXN transcript variant X21 XM_047429251.1:c.1444= XM_047429251.1:c.1444C>G
PXN transcript variant X22 XM_047429252.1:c.1342= XM_047429252.1:c.1342C>G
PXN transcript variant X16 XM_047429246.1:c.1693= XM_047429246.1:c.1693C>G
PXN transcript variant X23 XM_047429253.1:c.1300= XM_047429253.1:c.1300C>G
PXN-AS1 transcript NR_038924.1:n.326= NR_038924.1:n.326G>C
paxillin isoform 4 NP_079433.3:p.Gln400= NP_079433.3:p.Gln400Glu
paxillin isoform 1 NP_002850.2:p.Gln533= NP_002850.2:p.Gln533Glu
paxillin isoform 2 NP_001074324.1:p.Gln567= NP_001074324.1:p.Gln567Glu
paxillin isoform 3 NP_001230685.1:p.Gln581= NP_001230685.1:p.Gln581Glu
paxillin isoform 5 NP_001372910.1:p.Gln1057= NP_001372910.1:p.Gln1057Glu
paxillin isoform 6 NP_001372911.1:p.Gln965= NP_001372911.1:p.Gln965Glu
paxillin isoform 7 NP_001372912.1:p.Gln963= NP_001372912.1:p.Gln963Glu
paxillin isoform 8 NP_001372913.1:p.Gln876= NP_001372913.1:p.Gln876Glu
paxillin isoform 9 NP_001372914.1:p.Gln828= NP_001372914.1:p.Gln828Glu
paxillin isoform 10 NP_001372915.1:p.Gln716= NP_001372915.1:p.Gln716Glu
paxillin isoform 11 NP_001372916.1:p.Gln670= NP_001372916.1:p.Gln670Glu
paxillin isoform X2 XP_006719595.1:p.Gln1105= XP_006719595.1:p.Gln1105Glu
paxillin isoform X10 XP_016875228.1:p.Gln587= XP_016875228.1:p.Gln587Glu
paxillin isoform X13 XP_016875229.1:p.Gln573= XP_016875229.1:p.Gln573Glu
paxillin isoform X17 XP_016875231.1:p.Gln539= XP_016875231.1:p.Gln539Glu
paxillin isoform X3 XP_011536924.1:p.Gln972= XP_011536924.1:p.Gln972Glu
paxillin isoform X1 XP_047285192.1:p.Gln1111= XP_047285192.1:p.Gln1111Glu
paxillin isoform X5 XP_047285193.1:p.Gln777= XP_047285193.1:p.Gln777Glu
paxillin isoform X6 XP_047285194.1:p.Gln729= XP_047285194.1:p.Gln729Glu
paxillin isoform X11 XP_047285198.1:p.Gln582= XP_047285198.1:p.Gln582Glu
paxillin isoform X12 XP_047285199.1:p.Gln579= XP_047285199.1:p.Gln579Glu
paxillin isoform X14 XP_047285200.1:p.Gln568= XP_047285200.1:p.Gln568Glu
paxillin isoform X15 XP_047285201.1:p.Gln565= XP_047285201.1:p.Gln565Glu
paxillin isoform X19 XP_047285206.1:p.Gln531= XP_047285206.1:p.Gln531Glu
paxillin isoform X18 XP_047285205.1:p.Gln534= XP_047285205.1:p.Gln534Glu
paxillin isoform X7 XP_047285195.1:p.Gln718= XP_047285195.1:p.Gln718Glu
paxillin isoform X8 XP_047285196.1:p.Gln615= XP_047285196.1:p.Gln615Glu
paxillin isoform X9 XP_047285197.1:p.Gln613= XP_047285197.1:p.Gln613Glu
paxillin isoform X20 XP_047285207.1:p.Gln482= XP_047285207.1:p.Gln482Glu
paxillin isoform X21 XP_047285208.1:p.Gln448= XP_047285208.1:p.Gln448Glu
paxillin isoform X15 XP_047285202.1:p.Gln565= XP_047285202.1:p.Gln565Glu
paxillin isoform X22 XP_047285209.1:p.Gln434= XP_047285209.1:p.Gln434Glu
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740190071 Nov 08, 2017 (151)
2 GNOMAD ss4260150938 Apr 26, 2021 (155)
3 TOPMED ss4935008325 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000012.12 - 120212391 Apr 26, 2021 (155)
5 gnomAD - Exomes NC_000012.11 - 120650194 Jul 13, 2019 (153)
6 TopMed NC_000012.12 - 120212391 Apr 26, 2021 (155)
7 ALFA NC_000012.12 - 120212391 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
9428843, ss2740190071 NC_000012.11:120650193:G:C NC_000012.12:120212390:G:C (self)
421225935, 150553982, 5305762794, ss4260150938, ss4935008325 NC_000012.12:120212390:G:C NC_000012.12:120212390:G: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 rs1390366271

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