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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.

rs558325312

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:3817382 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000034 (9/264690, TOPMED)
T=0.000175 (44/251158, GnomAD_exome)
T=0.000121 (17/140170, GnomAD) (+ 7 more)
T=0.000141 (17/120848, ExAC)
T=0.00003 (1/35432, ALFA)
T=0.0002 (1/6404, 1000G_30x)
T=0.0002 (1/5008, 1000G)
T=0.0007 (2/2922, KOREAN)
T=0.0005 (1/1832, Korea1K)
T=0.003 (1/304, FINRISK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PGAP2 : Missense Variant
LOC124902618 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 51794 C=0.99996 T=0.00004
European Sub 36678 C=0.99995 T=0.00005
African Sub 7756 C=1.0000 T=0.0000
African Others Sub 298 C=1.000 T=0.000
African American Sub 7458 C=1.0000 T=0.0000
Asian Sub 112 C=1.000 T=0.000
East Asian Sub 86 C=1.00 T=0.00
Other Asian Sub 26 C=1.00 T=0.00
Latin American 1 Sub 500 C=1.000 T=0.000
Latin American 2 Sub 628 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 6022 C=1.0000 T=0.0000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999966 T=0.000034
gnomAD - Exomes Global Study-wide 251158 C=0.999825 T=0.000175
gnomAD - Exomes European Sub 135142 C=0.999763 T=0.000237
gnomAD - Exomes Asian Sub 49004 C=0.99976 T=0.00024
gnomAD - Exomes American Sub 34566 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16256 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10058 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6132 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140170 C=0.999879 T=0.000121
gnomAD - Genomes European Sub 75874 C=0.99983 T=0.00017
gnomAD - Genomes African Sub 42060 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13632 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=0.9987 T=0.0013
gnomAD - Genomes Other Sub 2148 C=1.0000 T=0.0000
ExAC Global Study-wide 120848 C=0.999859 T=0.000141
ExAC Europe Sub 73080 C=0.99984 T=0.00016
ExAC Asian Sub 24886 C=0.99980 T=0.00020
ExAC American Sub 11574 C=1.00000 T=0.00000
ExAC African Sub 10406 C=1.00000 T=0.00000
ExAC Other Sub 902 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 35432 C=0.99997 T=0.00003
Allele Frequency Aggregator European Sub 26588 C=0.99996 T=0.00004
Allele Frequency Aggregator Other Sub 4588 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2918 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
1000Genomes_30x Global Study-wide 6404 C=0.9998 T=0.0002
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=0.9991 T=0.0009
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9998 T=0.0002
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=0.9990 T=0.0010
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=1.000 T=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9993 T=0.0007
Korean Genome Project KOREAN Study-wide 1832 C=0.9995 T=0.0005
FINRISK Finnish from FINRISK project Study-wide 304 C=0.997 T=0.003
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.3817382C>T
GRCh37.p13 chr 11 NC_000011.9:g.3838612C>T
PGAP2 RefSeqGene NG_051812.1:g.24659C>T
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.336+5958…

NM_001145438.2:c.336+5958C>T

N/A Intron Variant
PGAP2 transcript variant 4 NM_001256235.1:c.135-5527…

NM_001256235.1:c.135-5527C>T

N/A Intron Variant
PGAP2 transcript variant 9 NM_001256237.1:c.336+5958…

NM_001256237.1:c.336+5958C>T

N/A Intron Variant
PGAP2 transcript variant 10 NM_001256238.1:c.165+5958…

NM_001256238.1:c.165+5958C>T

N/A Intron Variant
PGAP2 transcript variant 11 NM_001256239.2:c.165+5958…

NM_001256239.2:c.165+5958C>T

N/A Intron Variant
PGAP2 transcript variant 12 NM_001256240.2:c.165+5958…

NM_001256240.2:c.165+5958C>T

N/A Intron Variant
PGAP2 transcript variant 17 NM_001283038.1:c.336+5958…

NM_001283038.1:c.336+5958C>T

N/A Intron Variant
PGAP2 transcript variant 18 NM_001283039.1:c.162-6231…

NM_001283039.1:c.162-6231C>T

N/A Intron Variant
PGAP2 transcript variant 19 NM_001283040.1:c.162-6888…

NM_001283040.1:c.162-6888C>T

N/A Intron Variant
PGAP2 transcript variant 23 NM_001346397.2:c.318+5958…

NM_001346397.2:c.318+5958C>T

N/A Intron Variant
PGAP2 transcript variant 24 NM_001346398.2:c.165+5958…

NM_001346398.2:c.165+5958C>T

N/A Intron Variant
PGAP2 transcript variant 26 NM_001346399.2:c.-38-5527…

NM_001346399.2:c.-38-5527C>T

N/A Intron Variant
PGAP2 transcript variant 27 NM_001346400.2:c.165+5958…

NM_001346400.2:c.165+5958C>T

N/A Intron Variant
PGAP2 transcript variant 28 NM_001346401.2:c.-38-5527…

NM_001346401.2:c.-38-5527C>T

N/A Intron Variant
PGAP2 transcript variant 29 NM_001346402.2:c.201-5527…

NM_001346402.2:c.201-5527C>T

N/A Intron Variant
PGAP2 transcript variant 31 NM_001346404.1:c.165+5958…

NM_001346404.1:c.165+5958C>T

N/A Intron Variant
PGAP2 transcript variant 32 NM_001346405.1:c.165+5958…

NM_001346405.1:c.165+5958C>T

N/A Intron Variant
PGAP2 transcript variant 5 NM_001256236.1:c.366C>T A [GCC] > A [GCT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 4 NP_001243165.1:p.Ala122= A (Ala) > A (Ala) Synonymous Variant
PGAP2 transcript variant 30 NM_001346403.1:c.195C>T A [GCC] > A [GCT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 16 NP_001333332.1:p.Ala65= A (Ala) > A (Ala) Synonymous Variant
PGAP2 transcript variant 1 NM_014489.4:c.195C>T A [GCC] > A [GCT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform 1 NP_055304.1:p.Ala65= A (Ala) > A (Ala) Synonymous Variant
PGAP2 transcript variant 6 NR_027016.3:n. N/A Intron Variant
PGAP2 transcript variant 7 NR_027017.4:n. N/A Intron Variant
PGAP2 transcript variant 8 NR_027018.2:n. N/A Intron Variant
PGAP2 transcript variant 3 NR_045923.2:n. N/A Intron Variant
PGAP2 transcript variant 13 NR_045925.2:n. N/A Intron Variant
PGAP2 transcript variant 14 NR_045926.2:n. N/A Intron Variant
PGAP2 transcript variant 15 NR_045927.2:n. N/A Intron Variant
PGAP2 transcript variant 16 NR_045929.2:n. N/A Intron Variant
PGAP2 transcript variant 20 NR_104270.2:n. N/A Intron Variant
PGAP2 transcript variant 21 NR_104271.2:n. N/A Intron Variant
PGAP2 transcript variant 22 NR_104272.2:n. N/A Intron Variant
PGAP2 transcript variant 25 NR_144427.2:n. N/A Intron Variant
PGAP2 transcript variant 33 NR_144428.2:n. N/A Intron Variant
PGAP2 transcript variant 34 NR_144429.2:n. N/A Intron Variant
PGAP2 transcript variant 35 NR_144430.2:n. N/A Intron Variant
PGAP2 transcript variant X16 XM_006718185.3:c.162-5527…

XM_006718185.3:c.162-5527C>T

N/A Intron Variant
PGAP2 transcript variant X12 XM_011520002.2:c.165+5958…

XM_011520002.2:c.165+5958C>T

N/A Intron Variant
PGAP2 transcript variant X18 XM_024448443.2:c.135-5527…

XM_024448443.2:c.135-5527C>T

N/A Intron Variant
PGAP2 transcript variant X19 XM_024448444.2:c.135-5527…

XM_024448444.2:c.135-5527C>T

N/A Intron Variant
PGAP2 transcript variant X17 XM_047426782.1:c.162-5527…

XM_047426782.1:c.162-5527C>T

N/A Intron Variant
PGAP2 transcript variant X20 XM_047426784.1:c.200+5958…

XM_047426784.1:c.200+5958C>T

N/A Intron Variant
PGAP2 transcript variant X21 XM_047426785.1:c.200+5958…

XM_047426785.1:c.200+5958C>T

N/A Intron Variant
PGAP2 transcript variant X24 XM_047426788.1:c.144-5527…

XM_047426788.1:c.144-5527C>T

N/A Intron Variant
PGAP2 transcript variant X25 XM_047426789.1:c.-38-5527…

XM_047426789.1:c.-38-5527C>T

N/A Intron Variant
PGAP2 transcript variant X26 XM_047426790.1:c.-38-5527…

XM_047426790.1:c.-38-5527C>T

N/A Intron Variant
PGAP2 transcript variant X27 XM_047426792.1:c.-38-5527…

XM_047426792.1:c.-38-5527C>T

N/A Intron Variant
PGAP2 transcript variant X28 XM_047426793.1:c.144-6231…

XM_047426793.1:c.144-6231C>T

N/A Intron Variant
PGAP2 transcript variant X7 XM_047426779.1:c.-20= N/A 5 Prime UTR Variant
PGAP2 transcript variant X29 XM_047426783.1:c.-20= N/A 5 Prime UTR Variant
PGAP2 transcript variant X30 XM_047426791.1:c. N/A Genic Upstream Transcript Variant
PGAP2 transcript variant X1 XM_011519990.3:c.195C>T A [GCC] > A [GCT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X1 XP_011518292.3:p.Ala65= A (Ala) > A (Ala) Synonymous Variant
PGAP2 transcript variant X2 XM_011519991.3:c.195C>T A [GCC] > A [GCT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X2 XP_011518293.3:p.Ala65= A (Ala) > A (Ala) Synonymous Variant
PGAP2 transcript variant X3 XM_011519992.2:c.278C>T P [CCT] > L [CTT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X3 XP_011518294.1:p.Pro93Leu P (Pro) > L (Leu) Missense Variant
PGAP2 transcript variant X4 XM_047426776.1:c.195C>T A [GCC] > A [GCT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X4 XP_047282732.1:p.Ala65= A (Ala) > A (Ala) Synonymous Variant
PGAP2 transcript variant X5 XM_047426777.1:c.366C>T A [GCC] > A [GCT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X5 XP_047282733.1:p.Ala122= A (Ala) > A (Ala) Synonymous Variant
PGAP2 transcript variant X6 XM_047426778.1:c.278C>T P [CCT] > L [CTT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X6 XP_047282734.1:p.Pro93Leu P (Pro) > L (Leu) Missense Variant
PGAP2 transcript variant X8 XM_011519996.2:c.230C>T P [CCT] > L [CTT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X8 XP_011518298.1:p.Pro77Leu P (Pro) > L (Leu) Missense Variant
PGAP2 transcript variant X9 XM_011519998.3:c.212C>T P [CCT] > L [CTT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X9 XP_011518300.1:p.Pro71Leu P (Pro) > L (Leu) Missense Variant
PGAP2 transcript variant X10 XM_011519999.2:c.212C>T P [CCT] > L [CTT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X9 XP_011518301.1:p.Pro71Leu P (Pro) > L (Leu) Missense Variant
PGAP2 transcript variant X11 XM_047426780.1:c.191C>T P [CCT] > L [CTT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X10 XP_047282736.1:p.Pro64Leu P (Pro) > L (Leu) Missense Variant
PGAP2 transcript variant X13 XM_006718181.4:c.198C>T A [GCC] > A [GCT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X12 XP_006718244.1:p.Ala66= A (Ala) > A (Ala) Synonymous Variant
PGAP2 transcript variant X14 XM_011520004.3:c.348C>T A [GCC] > A [GCT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X13 XP_011518306.2:p.Ala116= A (Ala) > A (Ala) Synonymous Variant
PGAP2 transcript variant X15 XM_047426781.1:c.195C>T A [GCC] > A [GCT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X2 XP_047282737.1:p.Ala65= A (Ala) > A (Ala) Synonymous Variant
PGAP2 transcript variant X22 XM_047426786.1:c.15C>T A [GCC] > A [GCT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X19 XP_047282742.1:p.Ala5= A (Ala) > A (Ala) Synonymous Variant
PGAP2 transcript variant X23 XM_047426787.1:c.15C>T A [GCC] > A [GCT] Coding Sequence Variant
post-GPI attachment to proteins factor 2 isoform X19 XP_047282743.1:p.Ala5= A (Ala) > A (Ala) Synonymous Variant
Gene: LOC124902618, uncharacterized LOC124902618 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124902618 transcript XR_007062559.1:n.21G>A 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 C= T
GRCh38.p14 chr 11 NC_000011.10:g.3817382= NC_000011.10:g.3817382C>T
GRCh37.p13 chr 11 NC_000011.9:g.3838612= NC_000011.9:g.3838612C>T
PGAP2 RefSeqGene NG_051812.1:g.24659= NG_051812.1:g.24659C>T
PGAP2 transcript variant 1 NM_014489.4:c.195= NM_014489.4:c.195C>T
PGAP2 transcript variant 1 NM_014489.3:c.195= NM_014489.3:c.195C>T
PGAP2 transcript variant 5 NM_001256236.1:c.366= NM_001256236.1:c.366C>T
PGAP2 transcript variant 30 NM_001346403.1:c.195= NM_001346403.1:c.195C>T
PGAP2 transcript variant X13 XM_006718181.4:c.198= XM_006718181.4:c.198C>T
PGAP2 transcript variant X11 XM_006718181.3:c.198= XM_006718181.3:c.198C>T
PGAP2 transcript variant X14 XM_006718181.2:c.198= XM_006718181.2:c.198C>T
PGAP2 transcript variant X1 XM_006718181.1:c.198= XM_006718181.1:c.198C>T
PGAP2 transcript variant X9 XM_011519998.3:c.212= XM_011519998.3:c.212C>T
PGAP2 transcript variant X8 XM_011519998.2:c.212= XM_011519998.2:c.212C>T
PGAP2 transcript variant X9 XM_011519998.1:c.212= XM_011519998.1:c.212C>T
PGAP2 transcript variant X14 XM_011520004.3:c.348= XM_011520004.3:c.348C>T
PGAP2 transcript variant X13 XM_011520004.2:c.195= XM_011520004.2:c.195C>T
PGAP2 transcript variant X16 XM_011520004.1:c.195= XM_011520004.1:c.195C>T
PGAP2 transcript variant X1 XM_011519990.3:c.195= XM_011519990.3:c.195C>T
PGAP2 transcript variant X1 XM_011519990.2:c.423= XM_011519990.2:c.423C>T
PGAP2 transcript variant X1 XM_011519990.1:c.195= XM_011519990.1:c.195C>T
PGAP2 transcript variant X2 XM_011519991.3:c.195= XM_011519991.3:c.195C>T
PGAP2 transcript variant X2 XM_011519991.2:c.423= XM_011519991.2:c.423C>T
PGAP2 transcript variant X2 XM_011519991.1:c.195= XM_011519991.1:c.195C>T
PGAP2 transcript variant X3 XM_011519992.2:c.278= XM_011519992.2:c.278C>T
PGAP2 transcript variant X3 XM_011519992.1:c.278= XM_011519992.1:c.278C>T
PGAP2 transcript variant X8 XM_011519996.2:c.230= XM_011519996.2:c.230C>T
PGAP2 transcript variant X6 XM_011519996.1:c.230= XM_011519996.1:c.230C>T
PGAP2 transcript variant X10 XM_011519999.2:c.212= XM_011519999.2:c.212C>T
PGAP2 transcript variant X9 XM_011519999.1:c.212= XM_011519999.1:c.212C>T
PGAP2 transcript variant X6 XM_047426778.1:c.278= XM_047426778.1:c.278C>T
PGAP2 transcript variant X5 XM_047426777.1:c.366= XM_047426777.1:c.366C>T
PGAP2 transcript variant X11 XM_047426780.1:c.191= XM_047426780.1:c.191C>T
PGAP2 transcript variant 5 NR_027015.1:n.308= NR_027015.1:n.308C>T
PGAP2 transcript variant X15 XM_047426781.1:c.195= XM_047426781.1:c.195C>T
PGAP2 transcript variant X22 XM_047426786.1:c.15= XM_047426786.1:c.15C>T
PGAP2 transcript variant X7 XM_047426779.1:c.-20= XM_047426779.1:c.-20C>T
PGAP2 transcript variant X29 XM_047426783.1:c.-20= XM_047426783.1:c.-20C>T
PGAP2 transcript variant X23 XM_047426787.1:c.15= XM_047426787.1:c.15C>T
PGAP2 transcript variant X4 XM_047426776.1:c.195= XM_047426776.1:c.195C>T
LOC124902618 transcript XR_007062559.1:n.21= XR_007062559.1:n.21G>A
post-GPI attachment to proteins factor 2 isoform 1 NP_055304.1:p.Ala65= NP_055304.1:p.Ala65=
post-GPI attachment to proteins factor 2 isoform 4 NP_001243165.1:p.Ala122= NP_001243165.1:p.Ala122=
post-GPI attachment to proteins factor 2 isoform 16 NP_001333332.1:p.Ala65= NP_001333332.1:p.Ala65=
post-GPI attachment to proteins factor 2 isoform X12 XP_006718244.1:p.Ala66= XP_006718244.1:p.Ala66=
post-GPI attachment to proteins factor 2 isoform X9 XP_011518300.1:p.Pro71= XP_011518300.1:p.Pro71Leu
post-GPI attachment to proteins factor 2 isoform X13 XP_011518306.2:p.Ala116= XP_011518306.2:p.Ala116=
post-GPI attachment to proteins factor 2 isoform X1 XP_011518292.3:p.Ala65= XP_011518292.3:p.Ala65=
post-GPI attachment to proteins factor 2 isoform X2 XP_011518293.3:p.Ala65= XP_011518293.3:p.Ala65=
post-GPI attachment to proteins factor 2 isoform X3 XP_011518294.1:p.Pro93= XP_011518294.1:p.Pro93Leu
post-GPI attachment to proteins factor 2 isoform X8 XP_011518298.1:p.Pro77= XP_011518298.1:p.Pro77Leu
post-GPI attachment to proteins factor 2 isoform X9 XP_011518301.1:p.Pro71= XP_011518301.1:p.Pro71Leu
post-GPI attachment to proteins factor 2 isoform X6 XP_047282734.1:p.Pro93= XP_047282734.1:p.Pro93Leu
post-GPI attachment to proteins factor 2 isoform X5 XP_047282733.1:p.Ala122= XP_047282733.1:p.Ala122=
post-GPI attachment to proteins factor 2 isoform X10 XP_047282736.1:p.Pro64= XP_047282736.1:p.Pro64Leu
post-GPI attachment to proteins factor 2 isoform X2 XP_047282737.1:p.Ala65= XP_047282737.1:p.Ala65=
post-GPI attachment to proteins factor 2 isoform X19 XP_047282742.1:p.Ala5= XP_047282742.1:p.Ala5=
post-GPI attachment to proteins factor 2 isoform X19 XP_047282743.1:p.Ala5= XP_047282743.1:p.Ala5=
post-GPI attachment to proteins factor 2 isoform X4 XP_047282732.1:p.Ala65= XP_047282732.1:p.Ala65=
PGAP2 transcript variant 2 NM_001145438.2:c.336+5958= NM_001145438.2:c.336+5958C>T
PGAP2 transcript variant 4 NM_001256235.1:c.135-5527= NM_001256235.1:c.135-5527C>T
PGAP2 transcript variant 9 NM_001256237.1:c.336+5958= NM_001256237.1:c.336+5958C>T
PGAP2 transcript variant 10 NM_001256238.1:c.165+5958= NM_001256238.1:c.165+5958C>T
PGAP2 transcript variant 11 NM_001256239.1:c.165+5958= NM_001256239.1:c.165+5958C>T
PGAP2 transcript variant 11 NM_001256239.2:c.165+5958= NM_001256239.2:c.165+5958C>T
PGAP2 transcript variant 12 NM_001256240.1:c.165+5958= NM_001256240.1:c.165+5958C>T
PGAP2 transcript variant 12 NM_001256240.2:c.165+5958= NM_001256240.2:c.165+5958C>T
PGAP2 transcript variant 17 NM_001283038.1:c.336+5958= NM_001283038.1:c.336+5958C>T
PGAP2 transcript variant 18 NM_001283039.1:c.162-6231= NM_001283039.1:c.162-6231C>T
PGAP2 transcript variant 19 NM_001283040.1:c.162-6888= NM_001283040.1:c.162-6888C>T
PGAP2 transcript variant 23 NM_001346397.2:c.318+5958= NM_001346397.2:c.318+5958C>T
PGAP2 transcript variant 24 NM_001346398.2:c.165+5958= NM_001346398.2:c.165+5958C>T
PGAP2 transcript variant 26 NM_001346399.2:c.-38-5527= NM_001346399.2:c.-38-5527C>T
PGAP2 transcript variant 27 NM_001346400.2:c.165+5958= NM_001346400.2:c.165+5958C>T
PGAP2 transcript variant 28 NM_001346401.2:c.-38-5527= NM_001346401.2:c.-38-5527C>T
PGAP2 transcript variant 29 NM_001346402.2:c.201-5527= NM_001346402.2:c.201-5527C>T
PGAP2 transcript variant 31 NM_001346404.1:c.165+5958= NM_001346404.1:c.165+5958C>T
PGAP2 transcript variant 32 NM_001346405.1:c.165+5958= NM_001346405.1:c.165+5958C>T
PGAP2 transcript variant X16 XM_006718185.3:c.162-5527= XM_006718185.3:c.162-5527C>T
PGAP2 transcript variant X12 XM_011520002.2:c.165+5958= XM_011520002.2:c.165+5958C>T
PGAP2 transcript variant X18 XM_024448443.2:c.135-5527= XM_024448443.2:c.135-5527C>T
PGAP2 transcript variant X19 XM_024448444.2:c.135-5527= XM_024448444.2:c.135-5527C>T
PGAP2 transcript variant X17 XM_047426782.1:c.162-5527= XM_047426782.1:c.162-5527C>T
PGAP2 transcript variant X20 XM_047426784.1:c.200+5958= XM_047426784.1:c.200+5958C>T
PGAP2 transcript variant X21 XM_047426785.1:c.200+5958= XM_047426785.1:c.200+5958C>T
PGAP2 transcript variant X24 XM_047426788.1:c.144-5527= XM_047426788.1:c.144-5527C>T
PGAP2 transcript variant X25 XM_047426789.1:c.-38-5527= XM_047426789.1:c.-38-5527C>T
PGAP2 transcript variant X26 XM_047426790.1:c.-38-5527= XM_047426790.1:c.-38-5527C>T
PGAP2 transcript variant X27 XM_047426792.1:c.-38-5527= XM_047426792.1:c.-38-5527C>T
PGAP2 transcript variant X28 XM_047426793.1:c.144-6231= XM_047426793.1:c.144-6231C>T
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#.

14 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss1339891812 Aug 21, 2014 (142)
2 EVA_FINRISK ss1584072259 Apr 01, 2015 (144)
3 EVA_EXAC ss1690211424 Apr 01, 2015 (144)
4 GNOMAD ss2738725329 Nov 08, 2017 (151)
5 GNOMAD ss2748539376 Nov 08, 2017 (151)
6 GNOMAD ss2895701107 Nov 08, 2017 (151)
7 EVA ss3748872646 Jul 13, 2019 (153)
8 KHV_HUMAN_GENOMES ss3814219536 Jul 13, 2019 (153)
9 KRGDB ss3923745473 Apr 26, 2020 (154)
10 KOGIC ss3969095780 Apr 26, 2020 (154)
11 TOPMED ss4873316844 Apr 27, 2021 (155)
12 EVA ss5397387311 Oct 16, 2022 (156)
13 1000G_HIGH_COVERAGE ss5581228579 Oct 16, 2022 (156)
14 EVA ss5918607814 Oct 16, 2022 (156)
15 1000Genomes NC_000011.9 - 3838612 Oct 12, 2018 (152)
16 1000Genomes_30x NC_000011.10 - 3817382 Oct 16, 2022 (156)
17 ExAC NC_000011.9 - 3838612 Oct 12, 2018 (152)
18 FINRISK NC_000011.9 - 3838612 Apr 26, 2020 (154)
19 gnomAD - Genomes NC_000011.10 - 3817382 Apr 27, 2021 (155)
20 gnomAD - Exomes NC_000011.9 - 3838612 Jul 13, 2019 (153)
21 KOREAN population from KRGDB NC_000011.9 - 3838612 Apr 26, 2020 (154)
22 Korean Genome Project NC_000011.10 - 3817382 Apr 26, 2020 (154)
23 TopMed NC_000011.10 - 3817382 Apr 27, 2021 (155)
24 ALFA NC_000011.10 - 3817382 Apr 27, 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
52366514, 455975, 68720, 7931001, 30922867, ss1339891812, ss1584072259, ss1690211424, ss2738725329, ss2748539376, ss2895701107, ss3748872646, ss3923745473, ss5397387311 NC_000011.9:3838611:C:T NC_000011.10:3817381:C:T (self)
68754514, 369782917, 25473781, 88862500, 2597594226, ss3814219536, ss3969095780, ss4873316844, ss5581228579, ss5918607814 NC_000011.10:3817381:C:T NC_000011.10:3817381:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs558325312

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