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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.

rs1466667957

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:3824338 (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>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/251490, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PGAP2 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 251490 C=0.999996 A=0.000004
gnomAD - Exomes European Sub 135412 C=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 49010 C=0.99998 A=0.00002
gnomAD - Exomes American Sub 34592 C=1.00000 A=0.00000
gnomAD - Exomes African Sub 16256 C=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6140 C=1.0000 A=0.0000
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 11 NC_000011.10:g.3824338C>A
GRCh37.p13 chr 11 NC_000011.9:g.3845568C>A
PGAP2 RefSeqGene NG_051812.1:g.31615C>A
Gene: PGAP2, post-GPI attachment to proteins 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PGAP2 transcript variant 2 NM_001145438.2:c.658C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 2 NP_001138910.1:p.Leu220Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 4 NM_001256235.1:c.541C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 3 NP_001243164.1:p.Leu181Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 5 NM_001256236.1:c.841C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 4 NP_001243165.1:p.Leu281Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 9 NM_001256237.1:c.658C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 5 NP_001243166.1:p.Leu220Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 10 NM_001256238.1:c.487C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 6 NP_001243167.1:p.Leu163Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 17 NM_001283038.1:c.658C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 9 NP_001269967.1:p.Leu220Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 18 NM_001283039.1:c.611C>A S [TCT] > Y [TAT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 10 NP_001269968.1:p.Ser204Tyr S (Ser) > Y (Tyr) Missense Variant
PGAP2 transcript variant 19 NM_001283040.1:c.230C>A S [TCT] > Y [TAT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 11 NP_001269969.1:p.Ser77Tyr S (Ser) > Y (Tyr) Missense Variant
PGAP2 transcript variant 31 NM_001346404.1:c.487C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 17 NP_001333333.1:p.Leu163Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 32 NM_001346405.1:c.487C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 8 NP_001333334.1:p.Leu163Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 30 NM_001346403.1:c.670C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 16 NP_001333332.1:p.Leu224Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 1 NM_014489.4:c.670C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 1 NP_055304.1:p.Leu224Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 23 NM_001346397.2:c.640C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 12 NP_001333326.1:p.Leu214Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 28 NM_001346401.2:c.497C>A S [TCT] > Y [TAT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 14 NP_001333330.1:p.Ser166Tyr S (Ser) > Y (Tyr) Missense Variant
PGAP2 transcript variant 24 NM_001346398.2:c.487C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 8 NP_001333327.1:p.Leu163Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 26 NM_001346399.2:c.497C>A S [TCT] > Y [TAT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 13 NP_001333328.1:p.Ser166Tyr S (Ser) > Y (Tyr) Missense Variant
PGAP2 transcript variant 12 NM_001256240.2:c.487C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 8 NP_001243169.1:p.Leu163Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 27 NM_001346400.2:c.487C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 7 NP_001333329.1:p.Leu163Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 29 NM_001346402.2:c.607C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 15 NP_001333331.1:p.Leu203Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 11 NM_001256239.2:c.487C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 7 NP_001243168.1:p.Leu163Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant 8 NR_027018.2:n.635C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 35 NR_144430.2:n.161C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 34 NR_144429.2:n.414C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 25 NR_144427.2:n.429C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 33 NR_144428.2:n.674C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 13 NR_045925.2:n.351C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 21 NR_104271.2:n.689C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 7 NR_027017.4:n.807C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 14 NR_045926.2:n.351C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 6 NR_027016.3:n.414C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 16 NR_045929.2:n.542C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 22 NR_104272.2:n.414C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 15 NR_045927.2:n.429C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 20 NR_104270.2:n.429C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant 3 NR_045923.2:n.429C>A N/A Non Coding Transcript Variant
PGAP2 transcript variant X1 XM_011519990.3:c.670C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X1 XP_011518292.3:p.Leu224Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X2 XM_011519991.3:c.670C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X2 XP_011518293.3:p.Leu224Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X3 XM_011519992.2:c.838C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X3 XP_011518294.1:p.Leu280Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X4 XM_047426776.1:c.670C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X4 XP_047282732.1:p.Leu224Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X5 XM_047426777.1:c.841C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X5 XP_047282733.1:p.Leu281Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X6 XM_047426778.1:c.838C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X6 XP_047282734.1:p.Leu280Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X7 XM_047426779.1:c.541C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X7 XP_047282735.1:p.Leu181Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X8 XM_011519996.2:c.790C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X8 XP_011518298.1:p.Leu264Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X9 XM_011519998.3:c.772C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X9 XP_011518300.1:p.Leu258Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X10 XM_011519999.2:c.772C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X9 XP_011518301.1:p.Leu258Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X11 XM_047426780.1:c.751C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X10 XP_047282736.1:p.Leu251Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X12 XM_011520002.2:c.487C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X11 XP_011518304.1:p.Leu163Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X13 XM_006718181.4:c.673C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X12 XP_006718244.1:p.Leu225Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X14 XM_011520004.3:c.823C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X13 XP_011518306.2:p.Leu275Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X15 XM_047426781.1:c.670C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X2 XP_047282737.1:p.Leu224Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X16 XM_006718185.3:c.568C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X14 XP_006718248.1:p.Leu190Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X17 XM_047426782.1:c.568C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X15 XP_047282738.1:p.Leu190Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X29 XM_047426783.1:c.541C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X7 XP_047282739.1:p.Leu181Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X18 XM_024448443.2:c.541C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X16 XP_024304211.1:p.Leu181Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X19 XM_024448444.2:c.541C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X16 XP_024304212.1:p.Leu181Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X20 XM_047426784.1:c.650C>A S [TCT] > Y [TAT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X17 XP_047282740.1:p.Ser217Tyr S (Ser) > Y (Tyr) Missense Variant
PGAP2 transcript variant X21 XM_047426785.1:c.650C>A S [TCT] > Y [TAT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X18 XP_047282741.1:p.Ser217Tyr S (Ser) > Y (Tyr) Missense Variant
PGAP2 transcript variant X22 XM_047426786.1:c.490C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X19 XP_047282742.1:p.Leu164Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X23 XM_047426787.1:c.490C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X19 XP_047282743.1:p.Leu164Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X24 XM_047426788.1:c.550C>A L [CTC] > I [ATC] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X20 XP_047282744.1:p.Leu184Ile L (Leu) > I (Ile) Missense Variant
PGAP2 transcript variant X25 XM_047426789.1:c.497C>A S [TCT] > Y [TAT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X21 XP_047282745.1:p.Ser166Tyr S (Ser) > Y (Tyr) Missense Variant
PGAP2 transcript variant X26 XM_047426790.1:c.497C>A S [TCT] > Y [TAT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X21 XP_047282746.1:p.Ser166Tyr S (Ser) > Y (Tyr) Missense Variant
PGAP2 transcript variant X30 XM_047426791.1:c.497C>A S [TCT] > Y [TAT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X21 XP_047282747.1:p.Ser166Tyr S (Ser) > Y (Tyr) Missense Variant
PGAP2 transcript variant X27 XM_047426792.1:c.497C>A S [TCT] > Y [TAT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X22 XP_047282748.1:p.Ser166Tyr S (Ser) > Y (Tyr) Missense Variant
PGAP2 transcript variant X28 XM_047426793.1:c.593C>A S [TCT] > Y [TAT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X23 XP_047282749.1:p.Ser198Tyr 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 C= A
GRCh38.p14 chr 11 NC_000011.10:g.3824338= NC_000011.10:g.3824338C>A
GRCh37.p13 chr 11 NC_000011.9:g.3845568= NC_000011.9:g.3845568C>A
PGAP2 RefSeqGene NG_051812.1:g.31615= NG_051812.1:g.31615C>A
PGAP2 transcript variant 7 NR_027017.4:n.807= NR_027017.4:n.807C>A
PGAP2 transcript variant 7 NR_027017.3:n.886= NR_027017.3:n.886C>A
PGAP2 transcript variant 7 NR_027017.2:n.746= NR_027017.2:n.746C>A
PGAP2 transcript variant 1 NM_014489.4:c.670= NM_014489.4:c.670C>A
PGAP2 transcript variant 1 NM_014489.3:c.670= NM_014489.3:c.670C>A
PGAP2 transcript variant 6 NR_027016.3:n.414= NR_027016.3:n.414C>A
PGAP2 transcript variant 6 NR_027016.2:n.438= NR_027016.2:n.438C>A
PGAP2 transcript variant 33 NR_144428.2:n.674= NR_144428.2:n.674C>A
PGAP2 transcript variant 33 NR_144428.1:n.698= NR_144428.1:n.698C>A
PGAP2 transcript variant 28 NM_001346401.2:c.497= NM_001346401.2:c.497C>A
PGAP2 transcript variant 28 NM_001346401.1:c.497= NM_001346401.1:c.497C>A
PGAP2 transcript variant 26 NM_001346399.2:c.497= NM_001346399.2:c.497C>A
PGAP2 transcript variant 26 NM_001346399.1:c.497= NM_001346399.1:c.497C>A
PGAP2 transcript variant 23 NM_001346397.2:c.640= NM_001346397.2:c.640C>A
PGAP2 transcript variant 23 NM_001346397.1:c.640= NM_001346397.1:c.640C>A
PGAP2 transcript variant 34 NR_144429.2:n.414= NR_144429.2:n.414C>A
PGAP2 transcript variant 34 NR_144429.1:n.438= NR_144429.1:n.438C>A
PGAP2 transcript variant 29 NM_001346402.2:c.607= NM_001346402.2:c.607C>A
PGAP2 transcript variant 29 NM_001346402.1:c.607= NM_001346402.1:c.607C>A
PGAP2 transcript variant 21 NR_104271.2:n.689= NR_104271.2:n.689C>A
PGAP2 transcript variant 21 NR_104271.1:n.768= NR_104271.1:n.768C>A
PGAP2 transcript variant 2 NM_001145438.2:c.658= NM_001145438.2:c.658C>A
PGAP2 transcript variant 8 NR_027018.2:n.635= NR_027018.2:n.635C>A
PGAP2 transcript variant 24 NM_001346398.2:c.487= NM_001346398.2:c.487C>A
PGAP2 transcript variant 24 NM_001346398.1:c.487= NM_001346398.1:c.487C>A
PGAP2 transcript variant 12 NM_001256240.2:c.487= NM_001256240.2:c.487C>A
PGAP2 transcript variant 12 NM_001256240.1:c.487= NM_001256240.1:c.487C>A
PGAP2 transcript variant 27 NM_001346400.2:c.487= NM_001346400.2:c.487C>A
PGAP2 transcript variant 27 NM_001346400.1:c.487= NM_001346400.1:c.487C>A
PGAP2 transcript variant 11 NM_001256239.2:c.487= NM_001256239.2:c.487C>A
PGAP2 transcript variant 11 NM_001256239.1:c.487= NM_001256239.1:c.487C>A
PGAP2 transcript variant 16 NR_045929.2:n.542= NR_045929.2:n.542C>A
PGAP2 transcript variant 16 NR_045929.1:n.566= NR_045929.1:n.566C>A
PGAP2 transcript variant 15 NR_045927.2:n.429= NR_045927.2:n.429C>A
PGAP2 transcript variant 15 NR_045927.1:n.508= NR_045927.1:n.508C>A
PGAP2 transcript variant 25 NR_144427.2:n.429= NR_144427.2:n.429C>A
PGAP2 transcript variant 25 NR_144427.1:n.508= NR_144427.1:n.508C>A
PGAP2 transcript variant 3 NR_045923.2:n.429= NR_045923.2:n.429C>A
PGAP2 transcript variant 3 NR_045923.1:n.508= NR_045923.1:n.508C>A
PGAP2 transcript variant 20 NR_104270.2:n.429= NR_104270.2:n.429C>A
PGAP2 transcript variant 20 NR_104270.1:n.508= NR_104270.1:n.508C>A
PGAP2 transcript variant 22 NR_104272.2:n.414= NR_104272.2:n.414C>A
PGAP2 transcript variant 22 NR_104272.1:n.438= NR_104272.1:n.438C>A
PGAP2 transcript variant 14 NR_045926.2:n.351= NR_045926.2:n.351C>A
PGAP2 transcript variant 14 NR_045926.1:n.430= NR_045926.1:n.430C>A
PGAP2 transcript variant 13 NR_045925.2:n.351= NR_045925.2:n.351C>A
PGAP2 transcript variant 13 NR_045925.1:n.430= NR_045925.1:n.430C>A
PGAP2 transcript variant 35 NR_144430.2:n.161= NR_144430.2:n.161C>A
PGAP2 transcript variant 35 NR_144430.1:n.185= NR_144430.1:n.185C>A
PGAP2 transcript variant 5 NM_001256236.1:c.841= NM_001256236.1:c.841C>A
PGAP2 transcript variant 30 NM_001346403.1:c.670= NM_001346403.1:c.670C>A
PGAP2 transcript variant 9 NM_001256237.1:c.658= NM_001256237.1:c.658C>A
PGAP2 transcript variant 17 NM_001283038.1:c.658= NM_001283038.1:c.658C>A
PGAP2 transcript variant 31 NM_001346404.1:c.487= NM_001346404.1:c.487C>A
PGAP2 transcript variant 10 NM_001256238.1:c.487= NM_001256238.1:c.487C>A
PGAP2 transcript variant 18 NM_001283039.1:c.611= NM_001283039.1:c.611C>A
PGAP2 transcript variant 4 NM_001256235.1:c.541= NM_001256235.1:c.541C>A
PGAP2 transcript variant 32 NM_001346405.1:c.487= NM_001346405.1:c.487C>A
PGAP2 transcript variant 19 NM_001283040.1:c.230= NM_001283040.1:c.230C>A
PGAP2 transcript variant X13 XM_006718181.4:c.673= XM_006718181.4:c.673C>A
PGAP2 transcript variant X11 XM_006718181.3:c.673= XM_006718181.3:c.673C>A
PGAP2 transcript variant X14 XM_006718181.2:c.673= XM_006718181.2:c.673C>A
PGAP2 transcript variant X1 XM_006718181.1:c.673= XM_006718181.1:c.673C>A
PGAP2 transcript variant X9 XM_011519998.3:c.772= XM_011519998.3:c.772C>A
PGAP2 transcript variant X8 XM_011519998.2:c.772= XM_011519998.2:c.772C>A
PGAP2 transcript variant X9 XM_011519998.1:c.772= XM_011519998.1:c.772C>A
PGAP2 transcript variant X14 XM_011520004.3:c.823= XM_011520004.3:c.823C>A
PGAP2 transcript variant X13 XM_011520004.2:c.670= XM_011520004.2:c.670C>A
PGAP2 transcript variant X16 XM_011520004.1:c.670= XM_011520004.1:c.670C>A
PGAP2 transcript variant X1 XM_011519990.3:c.670= XM_011519990.3:c.670C>A
PGAP2 transcript variant X1 XM_011519990.2:c.898= XM_011519990.2:c.898C>A
PGAP2 transcript variant X1 XM_011519990.1:c.670= XM_011519990.1:c.670C>A
PGAP2 transcript variant X2 XM_011519991.3:c.670= XM_011519991.3:c.670C>A
PGAP2 transcript variant X2 XM_011519991.2:c.898= XM_011519991.2:c.898C>A
PGAP2 transcript variant X2 XM_011519991.1:c.670= XM_011519991.1:c.670C>A
PGAP2 transcript variant X16 XM_006718185.3:c.568= XM_006718185.3:c.568C>A
PGAP2 transcript variant X16 XM_006718185.2:c.568= XM_006718185.2:c.568C>A
PGAP2 transcript variant X5 XM_006718185.1:c.568= XM_006718185.1:c.568C>A
PGAP2 transcript variant X3 XM_011519992.2:c.838= XM_011519992.2:c.838C>A
PGAP2 transcript variant X3 XM_011519992.1:c.838= XM_011519992.1:c.838C>A
PGAP2 transcript variant X8 XM_011519996.2:c.790= XM_011519996.2:c.790C>A
PGAP2 transcript variant X6 XM_011519996.1:c.790= XM_011519996.1:c.790C>A
PGAP2 transcript variant X10 XM_011519999.2:c.772= XM_011519999.2:c.772C>A
PGAP2 transcript variant X9 XM_011519999.1:c.772= XM_011519999.1:c.772C>A
PGAP2 transcript variant X19 XM_024448444.2:c.541= XM_024448444.2:c.541C>A
PGAP2 transcript variant X19 XM_024448444.1:c.541= XM_024448444.1:c.541C>A
PGAP2 transcript variant X18 XM_024448443.2:c.541= XM_024448443.2:c.541C>A
PGAP2 transcript variant X18 XM_024448443.1:c.541= XM_024448443.1:c.541C>A
PGAP2 transcript variant X12 XM_011520002.2:c.487= XM_011520002.2:c.487C>A
PGAP2 transcript variant X10 XM_011520002.1:c.487= XM_011520002.1:c.487C>A
PGAP2 transcript variant X6 XM_047426778.1:c.838= XM_047426778.1:c.838C>A
PGAP2 transcript variant X5 XM_047426777.1:c.841= XM_047426777.1:c.841C>A
PGAP2 transcript variant X11 XM_047426780.1:c.751= XM_047426780.1:c.751C>A
PGAP2 transcript variant 5 NR_027015.1:n.783= NR_027015.1:n.783C>A
PGAP2 transcript variant X15 XM_047426781.1:c.670= XM_047426781.1:c.670C>A
PGAP2 transcript variant X22 XM_047426786.1:c.490= XM_047426786.1:c.490C>A
PGAP2 transcript variant X7 XM_047426779.1:c.541= XM_047426779.1:c.541C>A
PGAP2 transcript variant X29 XM_047426783.1:c.541= XM_047426783.1:c.541C>A
PGAP2 transcript variant X24 XM_047426788.1:c.550= XM_047426788.1:c.550C>A
PGAP2 transcript variant X23 XM_047426787.1:c.490= XM_047426787.1:c.490C>A
PGAP2 transcript variant 4 NR_027014.1:n.624= NR_027014.1:n.624C>A
PGAP2 transcript variant X17 XM_047426782.1:c.568= XM_047426782.1:c.568C>A
PGAP2 transcript variant 3 NM_001145439.1:c.347= NM_001145439.1:c.347C>A
PGAP2 transcript variant X4 XM_047426776.1:c.670= XM_047426776.1:c.670C>A
PGAP2 transcript variant X20 XM_047426784.1:c.650= XM_047426784.1:c.650C>A
PGAP2 transcript variant X21 XM_047426785.1:c.650= XM_047426785.1:c.650C>A
PGAP2 transcript variant X25 XM_047426789.1:c.497= XM_047426789.1:c.497C>A
PGAP2 transcript variant X27 XM_047426792.1:c.497= XM_047426792.1:c.497C>A
PGAP2 transcript variant X28 XM_047426793.1:c.593= XM_047426793.1:c.593C>A
PGAP2 transcript variant X30 XM_047426791.1:c.497= XM_047426791.1:c.497C>A
PGAP2 transcript variant X26 XM_047426790.1:c.497= XM_047426790.1:c.497C>A
post-GPI attachment to proteins factor 2 isoform 1 NP_055304.1:p.Leu224= NP_055304.1:p.Leu224Ile
post-GPI attachment to proteins factor 2 isoform 14 NP_001333330.1:p.Ser166= NP_001333330.1:p.Ser166Tyr
post-GPI attachment to proteins factor 2 isoform 13 NP_001333328.1:p.Ser166= NP_001333328.1:p.Ser166Tyr
post-GPI attachment to proteins factor 2 isoform 12 NP_001333326.1:p.Leu214= NP_001333326.1:p.Leu214Ile
post-GPI attachment to proteins factor 2 isoform 15 NP_001333331.1:p.Leu203= NP_001333331.1:p.Leu203Ile
post-GPI attachment to proteins factor 2 isoform 2 NP_001138910.1:p.Leu220= NP_001138910.1:p.Leu220Ile
post-GPI attachment to proteins factor 2 isoform 8 NP_001333327.1:p.Leu163= NP_001333327.1:p.Leu163Ile
post-GPI attachment to proteins factor 2 isoform 8 NP_001243169.1:p.Leu163= NP_001243169.1:p.Leu163Ile
post-GPI attachment to proteins factor 2 isoform 7 NP_001333329.1:p.Leu163= NP_001333329.1:p.Leu163Ile
post-GPI attachment to proteins factor 2 isoform 7 NP_001243168.1:p.Leu163= NP_001243168.1:p.Leu163Ile
post-GPI attachment to proteins factor 2 isoform 4 NP_001243165.1:p.Leu281= NP_001243165.1:p.Leu281Ile
post-GPI attachment to proteins factor 2 isoform 16 NP_001333332.1:p.Leu224= NP_001333332.1:p.Leu224Ile
post-GPI attachment to proteins factor 2 isoform 5 NP_001243166.1:p.Leu220= NP_001243166.1:p.Leu220Ile
post-GPI attachment to proteins factor 2 isoform 9 NP_001269967.1:p.Leu220= NP_001269967.1:p.Leu220Ile
post-GPI attachment to proteins factor 2 isoform 17 NP_001333333.1:p.Leu163= NP_001333333.1:p.Leu163Ile
post-GPI attachment to proteins factor 2 isoform 6 NP_001243167.1:p.Leu163= NP_001243167.1:p.Leu163Ile
post-GPI attachment to proteins factor 2 isoform 10 NP_001269968.1:p.Ser204= NP_001269968.1:p.Ser204Tyr
post-GPI attachment to proteins factor 2 isoform 3 NP_001243164.1:p.Leu181= NP_001243164.1:p.Leu181Ile
post-GPI attachment to proteins factor 2 isoform 8 NP_001333334.1:p.Leu163= NP_001333334.1:p.Leu163Ile
post-GPI attachment to proteins factor 2 isoform 11 NP_001269969.1:p.Ser77= NP_001269969.1:p.Ser77Tyr
post-GPI attachment to proteins factor 2 isoform X12 XP_006718244.1:p.Leu225= XP_006718244.1:p.Leu225Ile
post-GPI attachment to proteins factor 2 isoform X9 XP_011518300.1:p.Leu258= XP_011518300.1:p.Leu258Ile
post-GPI attachment to proteins factor 2 isoform X13 XP_011518306.2:p.Leu275= XP_011518306.2:p.Leu275Ile
post-GPI attachment to proteins factor 2 isoform X1 XP_011518292.3:p.Leu224= XP_011518292.3:p.Leu224Ile
post-GPI attachment to proteins factor 2 isoform X2 XP_011518293.3:p.Leu224= XP_011518293.3:p.Leu224Ile
post-GPI attachment to proteins factor 2 isoform X14 XP_006718248.1:p.Leu190= XP_006718248.1:p.Leu190Ile
post-GPI attachment to proteins factor 2 isoform X3 XP_011518294.1:p.Leu280= XP_011518294.1:p.Leu280Ile
post-GPI attachment to proteins factor 2 isoform X8 XP_011518298.1:p.Leu264= XP_011518298.1:p.Leu264Ile
post-GPI attachment to proteins factor 2 isoform X9 XP_011518301.1:p.Leu258= XP_011518301.1:p.Leu258Ile
post-GPI attachment to proteins factor 2 isoform X16 XP_024304212.1:p.Leu181= XP_024304212.1:p.Leu181Ile
post-GPI attachment to proteins factor 2 isoform X16 XP_024304211.1:p.Leu181= XP_024304211.1:p.Leu181Ile
post-GPI attachment to proteins factor 2 isoform X11 XP_011518304.1:p.Leu163= XP_011518304.1:p.Leu163Ile
post-GPI attachment to proteins factor 2 isoform X6 XP_047282734.1:p.Leu280= XP_047282734.1:p.Leu280Ile
post-GPI attachment to proteins factor 2 isoform X5 XP_047282733.1:p.Leu281= XP_047282733.1:p.Leu281Ile
post-GPI attachment to proteins factor 2 isoform X10 XP_047282736.1:p.Leu251= XP_047282736.1:p.Leu251Ile
post-GPI attachment to proteins factor 2 isoform X2 XP_047282737.1:p.Leu224= XP_047282737.1:p.Leu224Ile
post-GPI attachment to proteins factor 2 isoform X19 XP_047282742.1:p.Leu164= XP_047282742.1:p.Leu164Ile
post-GPI attachment to proteins factor 2 isoform X7 XP_047282735.1:p.Leu181= XP_047282735.1:p.Leu181Ile
post-GPI attachment to proteins factor 2 isoform X7 XP_047282739.1:p.Leu181= XP_047282739.1:p.Leu181Ile
post-GPI attachment to proteins factor 2 isoform X20 XP_047282744.1:p.Leu184= XP_047282744.1:p.Leu184Ile
post-GPI attachment to proteins factor 2 isoform X19 XP_047282743.1:p.Leu164= XP_047282743.1:p.Leu164Ile
post-GPI attachment to proteins factor 2 isoform X15 XP_047282738.1:p.Leu190= XP_047282738.1:p.Leu190Ile
post-GPI attachment to proteins factor 2 isoform X4 XP_047282732.1:p.Leu224= XP_047282732.1:p.Leu224Ile
post-GPI attachment to proteins factor 2 isoform X17 XP_047282740.1:p.Ser217= XP_047282740.1:p.Ser217Tyr
post-GPI attachment to proteins factor 2 isoform X18 XP_047282741.1:p.Ser217= XP_047282741.1:p.Ser217Tyr
post-GPI attachment to proteins factor 2 isoform X21 XP_047282745.1:p.Ser166= XP_047282745.1:p.Ser166Tyr
post-GPI attachment to proteins factor 2 isoform X22 XP_047282748.1:p.Ser166= XP_047282748.1:p.Ser166Tyr
post-GPI attachment to proteins factor 2 isoform X23 XP_047282749.1:p.Ser198= XP_047282749.1:p.Ser198Tyr
post-GPI attachment to proteins factor 2 isoform X21 XP_047282747.1:p.Ser166= XP_047282747.1:p.Ser166Tyr
post-GPI attachment to proteins factor 2 isoform X21 XP_047282746.1:p.Ser166= XP_047282746.1:p.Ser166Tyr
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, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738725729 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000011.9 - 3845568 Jul 13, 2019 (153)
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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
7931381, ss2738725729 NC_000011.9:3845567:C:A NC_000011.10:3824337:C:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1466667957

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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
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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