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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.

rs112928434

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:3818063-3818075 (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
delAA / delA / dupA / dupAA / dupA…

delAA / delA / dupA / dupAA / dupAAA / dup(A)4

Variation Type
Indel Insertion and Deletion
Frequency
dupAA=0.4788 (2398/5008, 1000G)
delAA=0.0000 (0/2154, ALFA)
delA=0.0000 (0/2154, ALFA) (+ 5 more)
dupA=0.0000 (0/2154, ALFA)
dupAA=0.0000 (0/2154, ALFA)
dupAAA=0.0000 (0/2154, ALFA)
dup(A)4=0.0000 (0/2154, ALFA)
(A)13=0.2 (2/8, KOREAN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PGAP2 : Intron Variant
LOC124902618 : 2KB Upstream 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 2154 AAAAAAAAAAAAA=1.0000 AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 922 AAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Sub 898 AAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 32 AAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 866 AAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 42 AAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 30 AAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 12 AAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 30 AAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 152 AAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 24 AAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 86 AAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 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
1000Genomes Global Study-wide 5008 -

No frequency provided

dupAA=0.4788
1000Genomes African Sub 1322 -

No frequency provided

dupAA=0.2958
1000Genomes East Asian Sub 1008 -

No frequency provided

dupAA=0.5496
1000Genomes Europe Sub 1006 -

No frequency provided

dupAA=0.6541
1000Genomes South Asian Sub 978 -

No frequency provided

dupAA=0.459
1000Genomes American Sub 694 -

No frequency provided

dupAA=0.499
Allele Frequency Aggregator Total Global 2154 (A)13=1.0000 delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator European Sub 922 (A)13=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator African Sub 898 (A)13=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Latin American 2 Sub 152 (A)13=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Other Sub 86 (A)13=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator Asian Sub 42 (A)13=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 30 (A)13=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator South Asian Sub 24 (A)13=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
KOREAN population from KRGDB KOREAN Study-wide 8 -

No frequency provided

dupAA=0.8
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.3818074_3818075del
GRCh38.p14 chr 11 NC_000011.10:g.3818075del
GRCh38.p14 chr 11 NC_000011.10:g.3818075dup
GRCh38.p14 chr 11 NC_000011.10:g.3818074_3818075dup
GRCh38.p14 chr 11 NC_000011.10:g.3818073_3818075dup
GRCh38.p14 chr 11 NC_000011.10:g.3818072_3818075dup
GRCh37.p13 chr 11 NC_000011.9:g.3839304_3839305del
GRCh37.p13 chr 11 NC_000011.9:g.3839305del
GRCh37.p13 chr 11 NC_000011.9:g.3839305dup
GRCh37.p13 chr 11 NC_000011.9:g.3839304_3839305dup
GRCh37.p13 chr 11 NC_000011.9:g.3839303_3839305dup
GRCh37.p13 chr 11 NC_000011.9:g.3839302_3839305dup
PGAP2 RefSeqGene NG_051812.1:g.25351_25352del
PGAP2 RefSeqGene NG_051812.1:g.25352del
PGAP2 RefSeqGene NG_051812.1:g.25352dup
PGAP2 RefSeqGene NG_051812.1:g.25351_25352dup
PGAP2 RefSeqGene NG_051812.1:g.25350_25352dup
PGAP2 RefSeqGene NG_051812.1:g.25349_25352dup
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.337-5809…

NM_001145438.2:c.337-5809_337-5808del

N/A Intron Variant
PGAP2 transcript variant 4 NM_001256235.1:c.135-4835…

NM_001256235.1:c.135-4835_135-4834del

N/A Intron Variant
PGAP2 transcript variant 5 NM_001256236.1:c.519+539_…

NM_001256236.1:c.519+539_519+540del

N/A Intron Variant
PGAP2 transcript variant 9 NM_001256237.1:c.337-5809…

NM_001256237.1:c.337-5809_337-5808del

N/A Intron Variant
PGAP2 transcript variant 10 NM_001256238.1:c.166-5809…

NM_001256238.1:c.166-5809_166-5808del

N/A Intron Variant
PGAP2 transcript variant 11 NM_001256239.2:c.166-5809…

NM_001256239.2:c.166-5809_166-5808del

N/A Intron Variant
PGAP2 transcript variant 12 NM_001256240.2:c.166-5809…

NM_001256240.2:c.166-5809_166-5808del

N/A Intron Variant
PGAP2 transcript variant 17 NM_001283038.1:c.337-5809…

NM_001283038.1:c.337-5809_337-5808del

N/A Intron Variant
PGAP2 transcript variant 18 NM_001283039.1:c.162-5539…

NM_001283039.1:c.162-5539_162-5538del

N/A Intron Variant
PGAP2 transcript variant 19 NM_001283040.1:c.162-6196…

NM_001283040.1:c.162-6196_162-6195del

N/A Intron Variant
PGAP2 transcript variant 23 NM_001346397.2:c.319-5809…

NM_001346397.2:c.319-5809_319-5808del

N/A Intron Variant
PGAP2 transcript variant 24 NM_001346398.2:c.166-5809…

NM_001346398.2:c.166-5809_166-5808del

N/A Intron Variant
PGAP2 transcript variant 26 NM_001346399.2:c.-38-4835…

NM_001346399.2:c.-38-4835_-38-4834del

N/A Intron Variant
PGAP2 transcript variant 27 NM_001346400.2:c.166-5809…

NM_001346400.2:c.166-5809_166-5808del

N/A Intron Variant
PGAP2 transcript variant 28 NM_001346401.2:c.-38-4835…

NM_001346401.2:c.-38-4835_-38-4834del

N/A Intron Variant
PGAP2 transcript variant 29 NM_001346402.2:c.201-4835…

NM_001346402.2:c.201-4835_201-4834del

N/A Intron Variant
PGAP2 transcript variant 30 NM_001346403.1:c.348+539_…

NM_001346403.1:c.348+539_348+540del

N/A Intron Variant
PGAP2 transcript variant 31 NM_001346404.1:c.166-5809…

NM_001346404.1:c.166-5809_166-5808del

N/A Intron Variant
PGAP2 transcript variant 32 NM_001346405.1:c.166-5809…

NM_001346405.1:c.166-5809_166-5808del

N/A Intron Variant
PGAP2 transcript variant 1 NM_014489.4:c.348+539_348…

NM_014489.4:c.348+539_348+540del

N/A Intron 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 X13 XM_006718181.4:c.351+539_…

XM_006718181.4:c.351+539_351+540del

N/A Intron Variant
PGAP2 transcript variant X16 XM_006718185.3:c.162-4835…

XM_006718185.3:c.162-4835_162-4834del

N/A Intron Variant
PGAP2 transcript variant X1 XM_011519990.3:c.348+539_…

XM_011519990.3:c.348+539_348+540del

N/A Intron Variant
PGAP2 transcript variant X2 XM_011519991.3:c.348+539_…

XM_011519991.3:c.348+539_348+540del

N/A Intron Variant
PGAP2 transcript variant X3 XM_011519992.2:c.431+539_…

XM_011519992.2:c.431+539_431+540del

N/A Intron Variant
PGAP2 transcript variant X8 XM_011519996.2:c.383+539_…

XM_011519996.2:c.383+539_383+540del

N/A Intron Variant
PGAP2 transcript variant X9 XM_011519998.3:c.365+539_…

XM_011519998.3:c.365+539_365+540del

N/A Intron Variant
PGAP2 transcript variant X10 XM_011519999.2:c.365+539_…

XM_011519999.2:c.365+539_365+540del

N/A Intron Variant
PGAP2 transcript variant X12 XM_011520002.2:c.166-5809…

XM_011520002.2:c.166-5809_166-5808del

N/A Intron Variant
PGAP2 transcript variant X14 XM_011520004.3:c.501+539_…

XM_011520004.3:c.501+539_501+540del

N/A Intron Variant
PGAP2 transcript variant X18 XM_024448443.2:c.135-4835…

XM_024448443.2:c.135-4835_135-4834del

N/A Intron Variant
PGAP2 transcript variant X19 XM_024448444.2:c.135-4835…

XM_024448444.2:c.135-4835_135-4834del

N/A Intron Variant
PGAP2 transcript variant X4 XM_047426776.1:c.348+539_…

XM_047426776.1:c.348+539_348+540del

N/A Intron Variant
PGAP2 transcript variant X5 XM_047426777.1:c.519+539_…

XM_047426777.1:c.519+539_519+540del

N/A Intron Variant
PGAP2 transcript variant X6 XM_047426778.1:c.431+539_…

XM_047426778.1:c.431+539_431+540del

N/A Intron Variant
PGAP2 transcript variant X7 XM_047426779.1:c.134+539_…

XM_047426779.1:c.134+539_134+540del

N/A Intron Variant
PGAP2 transcript variant X11 XM_047426780.1:c.344+539_…

XM_047426780.1:c.344+539_344+540del

N/A Intron Variant
PGAP2 transcript variant X15 XM_047426781.1:c.348+539_…

XM_047426781.1:c.348+539_348+540del

N/A Intron Variant
PGAP2 transcript variant X17 XM_047426782.1:c.162-4835…

XM_047426782.1:c.162-4835_162-4834del

N/A Intron Variant
PGAP2 transcript variant X29 XM_047426783.1:c.134+539_…

XM_047426783.1:c.134+539_134+540del

N/A Intron Variant
PGAP2 transcript variant X20 XM_047426784.1:c.201-5539…

XM_047426784.1:c.201-5539_201-5538del

N/A Intron Variant
PGAP2 transcript variant X21 XM_047426785.1:c.201-5539…

XM_047426785.1:c.201-5539_201-5538del

N/A Intron Variant
PGAP2 transcript variant X22 XM_047426786.1:c.168+539_…

XM_047426786.1:c.168+539_168+540del

N/A Intron Variant
PGAP2 transcript variant X23 XM_047426787.1:c.168+539_…

XM_047426787.1:c.168+539_168+540del

N/A Intron Variant
PGAP2 transcript variant X24 XM_047426788.1:c.144-4835…

XM_047426788.1:c.144-4835_144-4834del

N/A Intron Variant
PGAP2 transcript variant X25 XM_047426789.1:c.-38-4835…

XM_047426789.1:c.-38-4835_-38-4834del

N/A Intron Variant
PGAP2 transcript variant X26 XM_047426790.1:c.-38-4835…

XM_047426790.1:c.-38-4835_-38-4834del

N/A Intron Variant
PGAP2 transcript variant X30 XM_047426791.1:c.-39+539_…

XM_047426791.1:c.-39+539_-39+540del

N/A Intron Variant
PGAP2 transcript variant X27 XM_047426792.1:c.-38-4835…

XM_047426792.1:c.-38-4835_-38-4834del

N/A Intron Variant
PGAP2 transcript variant X28 XM_047426793.1:c.144-5539…

XM_047426793.1:c.144-5539_144-5538del

N/A Intron Variant
Gene: LOC124902618, uncharacterized LOC124902618 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC124902618 transcript XR_007062559.1:n. N/A Upstream 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 (A)13= delAA delA dupA dupAA dupAAA dup(A)4
GRCh38.p14 chr 11 NC_000011.10:g.3818063_3818075= NC_000011.10:g.3818074_3818075del NC_000011.10:g.3818075del NC_000011.10:g.3818075dup NC_000011.10:g.3818074_3818075dup NC_000011.10:g.3818073_3818075dup NC_000011.10:g.3818072_3818075dup
GRCh37.p13 chr 11 NC_000011.9:g.3839293_3839305= NC_000011.9:g.3839304_3839305del NC_000011.9:g.3839305del NC_000011.9:g.3839305dup NC_000011.9:g.3839304_3839305dup NC_000011.9:g.3839303_3839305dup NC_000011.9:g.3839302_3839305dup
PGAP2 RefSeqGene NG_051812.1:g.25340_25352= NG_051812.1:g.25351_25352del NG_051812.1:g.25352del NG_051812.1:g.25352dup NG_051812.1:g.25351_25352dup NG_051812.1:g.25350_25352dup NG_051812.1:g.25349_25352dup
PGAP2 transcript variant 2 NM_001145438.2:c.337-5820= NM_001145438.2:c.337-5809_337-5808del NM_001145438.2:c.337-5808del NM_001145438.2:c.337-5808dup NM_001145438.2:c.337-5809_337-5808dup NM_001145438.2:c.337-5810_337-5808dup NM_001145438.2:c.337-5811_337-5808dup
PGAP2 transcript variant 4 NM_001256235.1:c.135-4846= NM_001256235.1:c.135-4835_135-4834del NM_001256235.1:c.135-4834del NM_001256235.1:c.135-4834dup NM_001256235.1:c.135-4835_135-4834dup NM_001256235.1:c.135-4836_135-4834dup NM_001256235.1:c.135-4837_135-4834dup
PGAP2 transcript variant 5 NM_001256236.1:c.519+528= NM_001256236.1:c.519+539_519+540del NM_001256236.1:c.519+540del NM_001256236.1:c.519+540dup NM_001256236.1:c.519+539_519+540dup NM_001256236.1:c.519+538_519+540dup NM_001256236.1:c.519+537_519+540dup
PGAP2 transcript variant 9 NM_001256237.1:c.337-5820= NM_001256237.1:c.337-5809_337-5808del NM_001256237.1:c.337-5808del NM_001256237.1:c.337-5808dup NM_001256237.1:c.337-5809_337-5808dup NM_001256237.1:c.337-5810_337-5808dup NM_001256237.1:c.337-5811_337-5808dup
PGAP2 transcript variant 10 NM_001256238.1:c.166-5820= NM_001256238.1:c.166-5809_166-5808del NM_001256238.1:c.166-5808del NM_001256238.1:c.166-5808dup NM_001256238.1:c.166-5809_166-5808dup NM_001256238.1:c.166-5810_166-5808dup NM_001256238.1:c.166-5811_166-5808dup
PGAP2 transcript variant 11 NM_001256239.1:c.166-5820= NM_001256239.1:c.166-5809_166-5808del NM_001256239.1:c.166-5808del NM_001256239.1:c.166-5808dup NM_001256239.1:c.166-5809_166-5808dup NM_001256239.1:c.166-5810_166-5808dup NM_001256239.1:c.166-5811_166-5808dup
PGAP2 transcript variant 11 NM_001256239.2:c.166-5820= NM_001256239.2:c.166-5809_166-5808del NM_001256239.2:c.166-5808del NM_001256239.2:c.166-5808dup NM_001256239.2:c.166-5809_166-5808dup NM_001256239.2:c.166-5810_166-5808dup NM_001256239.2:c.166-5811_166-5808dup
PGAP2 transcript variant 12 NM_001256240.1:c.166-5820= NM_001256240.1:c.166-5809_166-5808del NM_001256240.1:c.166-5808del NM_001256240.1:c.166-5808dup NM_001256240.1:c.166-5809_166-5808dup NM_001256240.1:c.166-5810_166-5808dup NM_001256240.1:c.166-5811_166-5808dup
PGAP2 transcript variant 12 NM_001256240.2:c.166-5820= NM_001256240.2:c.166-5809_166-5808del NM_001256240.2:c.166-5808del NM_001256240.2:c.166-5808dup NM_001256240.2:c.166-5809_166-5808dup NM_001256240.2:c.166-5810_166-5808dup NM_001256240.2:c.166-5811_166-5808dup
PGAP2 transcript variant 17 NM_001283038.1:c.337-5820= NM_001283038.1:c.337-5809_337-5808del NM_001283038.1:c.337-5808del NM_001283038.1:c.337-5808dup NM_001283038.1:c.337-5809_337-5808dup NM_001283038.1:c.337-5810_337-5808dup NM_001283038.1:c.337-5811_337-5808dup
PGAP2 transcript variant 18 NM_001283039.1:c.162-5550= NM_001283039.1:c.162-5539_162-5538del NM_001283039.1:c.162-5538del NM_001283039.1:c.162-5538dup NM_001283039.1:c.162-5539_162-5538dup NM_001283039.1:c.162-5540_162-5538dup NM_001283039.1:c.162-5541_162-5538dup
PGAP2 transcript variant 19 NM_001283040.1:c.162-6207= NM_001283040.1:c.162-6196_162-6195del NM_001283040.1:c.162-6195del NM_001283040.1:c.162-6195dup NM_001283040.1:c.162-6196_162-6195dup NM_001283040.1:c.162-6197_162-6195dup NM_001283040.1:c.162-6198_162-6195dup
PGAP2 transcript variant 23 NM_001346397.2:c.319-5820= NM_001346397.2:c.319-5809_319-5808del NM_001346397.2:c.319-5808del NM_001346397.2:c.319-5808dup NM_001346397.2:c.319-5809_319-5808dup NM_001346397.2:c.319-5810_319-5808dup NM_001346397.2:c.319-5811_319-5808dup
PGAP2 transcript variant 24 NM_001346398.2:c.166-5820= NM_001346398.2:c.166-5809_166-5808del NM_001346398.2:c.166-5808del NM_001346398.2:c.166-5808dup NM_001346398.2:c.166-5809_166-5808dup NM_001346398.2:c.166-5810_166-5808dup NM_001346398.2:c.166-5811_166-5808dup
PGAP2 transcript variant 26 NM_001346399.2:c.-38-4846= NM_001346399.2:c.-38-4835_-38-4834del NM_001346399.2:c.-38-4834del NM_001346399.2:c.-38-4834dup NM_001346399.2:c.-38-4835_-38-4834dup NM_001346399.2:c.-38-4836_-38-4834dup NM_001346399.2:c.-38-4837_-38-4834dup
PGAP2 transcript variant 27 NM_001346400.2:c.166-5820= NM_001346400.2:c.166-5809_166-5808del NM_001346400.2:c.166-5808del NM_001346400.2:c.166-5808dup NM_001346400.2:c.166-5809_166-5808dup NM_001346400.2:c.166-5810_166-5808dup NM_001346400.2:c.166-5811_166-5808dup
PGAP2 transcript variant 28 NM_001346401.2:c.-38-4846= NM_001346401.2:c.-38-4835_-38-4834del NM_001346401.2:c.-38-4834del NM_001346401.2:c.-38-4834dup NM_001346401.2:c.-38-4835_-38-4834dup NM_001346401.2:c.-38-4836_-38-4834dup NM_001346401.2:c.-38-4837_-38-4834dup
PGAP2 transcript variant 29 NM_001346402.2:c.201-4846= NM_001346402.2:c.201-4835_201-4834del NM_001346402.2:c.201-4834del NM_001346402.2:c.201-4834dup NM_001346402.2:c.201-4835_201-4834dup NM_001346402.2:c.201-4836_201-4834dup NM_001346402.2:c.201-4837_201-4834dup
PGAP2 transcript variant 30 NM_001346403.1:c.348+528= NM_001346403.1:c.348+539_348+540del NM_001346403.1:c.348+540del NM_001346403.1:c.348+540dup NM_001346403.1:c.348+539_348+540dup NM_001346403.1:c.348+538_348+540dup NM_001346403.1:c.348+537_348+540dup
PGAP2 transcript variant 31 NM_001346404.1:c.166-5820= NM_001346404.1:c.166-5809_166-5808del NM_001346404.1:c.166-5808del NM_001346404.1:c.166-5808dup NM_001346404.1:c.166-5809_166-5808dup NM_001346404.1:c.166-5810_166-5808dup NM_001346404.1:c.166-5811_166-5808dup
PGAP2 transcript variant 32 NM_001346405.1:c.166-5820= NM_001346405.1:c.166-5809_166-5808del NM_001346405.1:c.166-5808del NM_001346405.1:c.166-5808dup NM_001346405.1:c.166-5809_166-5808dup NM_001346405.1:c.166-5810_166-5808dup NM_001346405.1:c.166-5811_166-5808dup
PGAP2 transcript variant 1 NM_014489.3:c.348+528= NM_014489.3:c.348+539_348+540del NM_014489.3:c.348+540del NM_014489.3:c.348+540dup NM_014489.3:c.348+539_348+540dup NM_014489.3:c.348+538_348+540dup NM_014489.3:c.348+537_348+540dup
PGAP2 transcript variant 1 NM_014489.4:c.348+528= NM_014489.4:c.348+539_348+540del NM_014489.4:c.348+540del NM_014489.4:c.348+540dup NM_014489.4:c.348+539_348+540dup NM_014489.4:c.348+538_348+540dup NM_014489.4:c.348+537_348+540dup
PGAP2 transcript variant X13 XM_006718181.4:c.351+528= XM_006718181.4:c.351+539_351+540del XM_006718181.4:c.351+540del XM_006718181.4:c.351+540dup XM_006718181.4:c.351+539_351+540dup XM_006718181.4:c.351+538_351+540dup XM_006718181.4:c.351+537_351+540dup
PGAP2 transcript variant X16 XM_006718185.3:c.162-4846= XM_006718185.3:c.162-4835_162-4834del XM_006718185.3:c.162-4834del XM_006718185.3:c.162-4834dup XM_006718185.3:c.162-4835_162-4834dup XM_006718185.3:c.162-4836_162-4834dup XM_006718185.3:c.162-4837_162-4834dup
PGAP2 transcript variant X1 XM_011519990.3:c.348+528= XM_011519990.3:c.348+539_348+540del XM_011519990.3:c.348+540del XM_011519990.3:c.348+540dup XM_011519990.3:c.348+539_348+540dup XM_011519990.3:c.348+538_348+540dup XM_011519990.3:c.348+537_348+540dup
PGAP2 transcript variant X2 XM_011519991.3:c.348+528= XM_011519991.3:c.348+539_348+540del XM_011519991.3:c.348+540del XM_011519991.3:c.348+540dup XM_011519991.3:c.348+539_348+540dup XM_011519991.3:c.348+538_348+540dup XM_011519991.3:c.348+537_348+540dup
PGAP2 transcript variant X3 XM_011519992.2:c.431+528= XM_011519992.2:c.431+539_431+540del XM_011519992.2:c.431+540del XM_011519992.2:c.431+540dup XM_011519992.2:c.431+539_431+540dup XM_011519992.2:c.431+538_431+540dup XM_011519992.2:c.431+537_431+540dup
PGAP2 transcript variant X8 XM_011519996.2:c.383+528= XM_011519996.2:c.383+539_383+540del XM_011519996.2:c.383+540del XM_011519996.2:c.383+540dup XM_011519996.2:c.383+539_383+540dup XM_011519996.2:c.383+538_383+540dup XM_011519996.2:c.383+537_383+540dup
PGAP2 transcript variant X9 XM_011519998.3:c.365+528= XM_011519998.3:c.365+539_365+540del XM_011519998.3:c.365+540del XM_011519998.3:c.365+540dup XM_011519998.3:c.365+539_365+540dup XM_011519998.3:c.365+538_365+540dup XM_011519998.3:c.365+537_365+540dup
PGAP2 transcript variant X10 XM_011519999.2:c.365+528= XM_011519999.2:c.365+539_365+540del XM_011519999.2:c.365+540del XM_011519999.2:c.365+540dup XM_011519999.2:c.365+539_365+540dup XM_011519999.2:c.365+538_365+540dup XM_011519999.2:c.365+537_365+540dup
PGAP2 transcript variant X12 XM_011520002.2:c.166-5820= XM_011520002.2:c.166-5809_166-5808del XM_011520002.2:c.166-5808del XM_011520002.2:c.166-5808dup XM_011520002.2:c.166-5809_166-5808dup XM_011520002.2:c.166-5810_166-5808dup XM_011520002.2:c.166-5811_166-5808dup
PGAP2 transcript variant X14 XM_011520004.3:c.501+528= XM_011520004.3:c.501+539_501+540del XM_011520004.3:c.501+540del XM_011520004.3:c.501+540dup XM_011520004.3:c.501+539_501+540dup XM_011520004.3:c.501+538_501+540dup XM_011520004.3:c.501+537_501+540dup
PGAP2 transcript variant X18 XM_024448443.2:c.135-4846= XM_024448443.2:c.135-4835_135-4834del XM_024448443.2:c.135-4834del XM_024448443.2:c.135-4834dup XM_024448443.2:c.135-4835_135-4834dup XM_024448443.2:c.135-4836_135-4834dup XM_024448443.2:c.135-4837_135-4834dup
PGAP2 transcript variant X19 XM_024448444.2:c.135-4846= XM_024448444.2:c.135-4835_135-4834del XM_024448444.2:c.135-4834del XM_024448444.2:c.135-4834dup XM_024448444.2:c.135-4835_135-4834dup XM_024448444.2:c.135-4836_135-4834dup XM_024448444.2:c.135-4837_135-4834dup
PGAP2 transcript variant X4 XM_047426776.1:c.348+528= XM_047426776.1:c.348+539_348+540del XM_047426776.1:c.348+540del XM_047426776.1:c.348+540dup XM_047426776.1:c.348+539_348+540dup XM_047426776.1:c.348+538_348+540dup XM_047426776.1:c.348+537_348+540dup
PGAP2 transcript variant X5 XM_047426777.1:c.519+528= XM_047426777.1:c.519+539_519+540del XM_047426777.1:c.519+540del XM_047426777.1:c.519+540dup XM_047426777.1:c.519+539_519+540dup XM_047426777.1:c.519+538_519+540dup XM_047426777.1:c.519+537_519+540dup
PGAP2 transcript variant X6 XM_047426778.1:c.431+528= XM_047426778.1:c.431+539_431+540del XM_047426778.1:c.431+540del XM_047426778.1:c.431+540dup XM_047426778.1:c.431+539_431+540dup XM_047426778.1:c.431+538_431+540dup XM_047426778.1:c.431+537_431+540dup
PGAP2 transcript variant X7 XM_047426779.1:c.134+528= XM_047426779.1:c.134+539_134+540del XM_047426779.1:c.134+540del XM_047426779.1:c.134+540dup XM_047426779.1:c.134+539_134+540dup XM_047426779.1:c.134+538_134+540dup XM_047426779.1:c.134+537_134+540dup
PGAP2 transcript variant X11 XM_047426780.1:c.344+528= XM_047426780.1:c.344+539_344+540del XM_047426780.1:c.344+540del XM_047426780.1:c.344+540dup XM_047426780.1:c.344+539_344+540dup XM_047426780.1:c.344+538_344+540dup XM_047426780.1:c.344+537_344+540dup
PGAP2 transcript variant X15 XM_047426781.1:c.348+528= XM_047426781.1:c.348+539_348+540del XM_047426781.1:c.348+540del XM_047426781.1:c.348+540dup XM_047426781.1:c.348+539_348+540dup XM_047426781.1:c.348+538_348+540dup XM_047426781.1:c.348+537_348+540dup
PGAP2 transcript variant X17 XM_047426782.1:c.162-4846= XM_047426782.1:c.162-4835_162-4834del XM_047426782.1:c.162-4834del XM_047426782.1:c.162-4834dup XM_047426782.1:c.162-4835_162-4834dup XM_047426782.1:c.162-4836_162-4834dup XM_047426782.1:c.162-4837_162-4834dup
PGAP2 transcript variant X29 XM_047426783.1:c.134+528= XM_047426783.1:c.134+539_134+540del XM_047426783.1:c.134+540del XM_047426783.1:c.134+540dup XM_047426783.1:c.134+539_134+540dup XM_047426783.1:c.134+538_134+540dup XM_047426783.1:c.134+537_134+540dup
PGAP2 transcript variant X20 XM_047426784.1:c.201-5550= XM_047426784.1:c.201-5539_201-5538del XM_047426784.1:c.201-5538del XM_047426784.1:c.201-5538dup XM_047426784.1:c.201-5539_201-5538dup XM_047426784.1:c.201-5540_201-5538dup XM_047426784.1:c.201-5541_201-5538dup
PGAP2 transcript variant X21 XM_047426785.1:c.201-5550= XM_047426785.1:c.201-5539_201-5538del XM_047426785.1:c.201-5538del XM_047426785.1:c.201-5538dup XM_047426785.1:c.201-5539_201-5538dup XM_047426785.1:c.201-5540_201-5538dup XM_047426785.1:c.201-5541_201-5538dup
PGAP2 transcript variant X22 XM_047426786.1:c.168+528= XM_047426786.1:c.168+539_168+540del XM_047426786.1:c.168+540del XM_047426786.1:c.168+540dup XM_047426786.1:c.168+539_168+540dup XM_047426786.1:c.168+538_168+540dup XM_047426786.1:c.168+537_168+540dup
PGAP2 transcript variant X23 XM_047426787.1:c.168+528= XM_047426787.1:c.168+539_168+540del XM_047426787.1:c.168+540del XM_047426787.1:c.168+540dup XM_047426787.1:c.168+539_168+540dup XM_047426787.1:c.168+538_168+540dup XM_047426787.1:c.168+537_168+540dup
PGAP2 transcript variant X24 XM_047426788.1:c.144-4846= XM_047426788.1:c.144-4835_144-4834del XM_047426788.1:c.144-4834del XM_047426788.1:c.144-4834dup XM_047426788.1:c.144-4835_144-4834dup XM_047426788.1:c.144-4836_144-4834dup XM_047426788.1:c.144-4837_144-4834dup
PGAP2 transcript variant X25 XM_047426789.1:c.-38-4846= XM_047426789.1:c.-38-4835_-38-4834del XM_047426789.1:c.-38-4834del XM_047426789.1:c.-38-4834dup XM_047426789.1:c.-38-4835_-38-4834dup XM_047426789.1:c.-38-4836_-38-4834dup XM_047426789.1:c.-38-4837_-38-4834dup
PGAP2 transcript variant X26 XM_047426790.1:c.-38-4846= XM_047426790.1:c.-38-4835_-38-4834del XM_047426790.1:c.-38-4834del XM_047426790.1:c.-38-4834dup XM_047426790.1:c.-38-4835_-38-4834dup XM_047426790.1:c.-38-4836_-38-4834dup XM_047426790.1:c.-38-4837_-38-4834dup
PGAP2 transcript variant X30 XM_047426791.1:c.-39+528= XM_047426791.1:c.-39+539_-39+540del XM_047426791.1:c.-39+540del XM_047426791.1:c.-39+540dup XM_047426791.1:c.-39+539_-39+540dup XM_047426791.1:c.-39+538_-39+540dup XM_047426791.1:c.-39+537_-39+540dup
PGAP2 transcript variant X27 XM_047426792.1:c.-38-4846= XM_047426792.1:c.-38-4835_-38-4834del XM_047426792.1:c.-38-4834del XM_047426792.1:c.-38-4834dup XM_047426792.1:c.-38-4835_-38-4834dup XM_047426792.1:c.-38-4836_-38-4834dup XM_047426792.1:c.-38-4837_-38-4834dup
PGAP2 transcript variant X28 XM_047426793.1:c.144-5550= XM_047426793.1:c.144-5539_144-5538del XM_047426793.1:c.144-5538del XM_047426793.1:c.144-5538dup XM_047426793.1:c.144-5539_144-5538dup XM_047426793.1:c.144-5540_144-5538dup XM_047426793.1:c.144-5541_144-5538dup
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#.

49 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss5299391 Oct 12, 2018 (152)
2 HGSV ss80234617 Oct 12, 2018 (152)
3 HUMANGENOME_JCVI ss95558794 Oct 12, 2018 (152)
4 BUSHMAN ss193215162 Jul 04, 2010 (132)
5 PJP ss294686040 Oct 12, 2018 (152)
6 TISHKOFF ss554560731 Apr 25, 2013 (138)
7 SSMP ss664050189 Apr 01, 2015 (144)
8 BILGI_BIOE ss666522452 Apr 25, 2013 (138)
9 1000GENOMES ss1370439062 Aug 21, 2014 (142)
10 HAMMER_LAB ss1806665567 Sep 08, 2015 (146)
11 SYSTEMSBIOZJU ss2627715972 Nov 08, 2017 (151)
12 SWEGEN ss3007499553 Nov 08, 2017 (151)
13 SWEGEN ss3007499555 Nov 08, 2017 (151)
14 SWEGEN ss3007499556 Nov 08, 2017 (151)
15 MCHAISSO ss3063677904 Nov 08, 2017 (151)
16 ACPOP ss3737867060 Jul 13, 2019 (153)
17 ACPOP ss3737867061 Jul 13, 2019 (153)
18 KHV_HUMAN_GENOMES ss3814219544 Jul 13, 2019 (153)
19 EVA ss3832444620 Apr 26, 2020 (154)
20 KRGDB ss3923745495 Apr 26, 2020 (154)
21 KOGIC ss3969095797 Apr 26, 2020 (154)
22 KOGIC ss3969095798 Apr 26, 2020 (154)
23 KOGIC ss3969095799 Apr 26, 2020 (154)
24 KOGIC ss3969095800 Apr 26, 2020 (154)
25 FSA-LAB ss3983994211 Apr 27, 2021 (155)
26 EVA ss3986511598 Apr 27, 2021 (155)
27 GNOMAD ss4229114947 Apr 27, 2021 (155)
28 GNOMAD ss4229114948 Apr 27, 2021 (155)
29 GNOMAD ss4229114949 Apr 27, 2021 (155)
30 GNOMAD ss4229114950 Apr 27, 2021 (155)
31 GNOMAD ss4229114952 Apr 27, 2021 (155)
32 GNOMAD ss4229114953 Apr 27, 2021 (155)
33 TOMMO_GENOMICS ss5200433056 Apr 27, 2021 (155)
34 TOMMO_GENOMICS ss5200433057 Apr 27, 2021 (155)
35 TOMMO_GENOMICS ss5200433058 Apr 27, 2021 (155)
36 1000G_HIGH_COVERAGE ss5286204178 Oct 16, 2022 (156)
37 1000G_HIGH_COVERAGE ss5286204180 Oct 16, 2022 (156)
38 1000G_HIGH_COVERAGE ss5286204181 Oct 16, 2022 (156)
39 1000G_HIGH_COVERAGE ss5286204182 Oct 16, 2022 (156)
40 HUGCELL_USP ss5481536470 Oct 16, 2022 (156)
41 HUGCELL_USP ss5481536471 Oct 16, 2022 (156)
42 HUGCELL_USP ss5481536473 Oct 16, 2022 (156)
43 HUGCELL_USP ss5481536474 Oct 16, 2022 (156)
44 TOMMO_GENOMICS ss5747118558 Oct 16, 2022 (156)
45 TOMMO_GENOMICS ss5747118560 Oct 16, 2022 (156)
46 TOMMO_GENOMICS ss5747118561 Oct 16, 2022 (156)
47 EVA ss5836181625 Oct 16, 2022 (156)
48 EVA ss5836181626 Oct 16, 2022 (156)
49 EVA ss5836181627 Oct 16, 2022 (156)
50 1000Genomes NC_000011.9 - 3839293 Oct 12, 2018 (152)
51 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 369783068 (NC_000011.10:3818062::A 13855/129698)
Row 369783069 (NC_000011.10:3818062::AA 61683/129584)
Row 369783070 (NC_000011.10:3818062::AAA 232/129720)...

- Apr 27, 2021 (155)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 369783068 (NC_000011.10:3818062::A 13855/129698)
Row 369783069 (NC_000011.10:3818062::AA 61683/129584)
Row 369783070 (NC_000011.10:3818062::AAA 232/129720)...

- Apr 27, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 369783068 (NC_000011.10:3818062::A 13855/129698)
Row 369783069 (NC_000011.10:3818062::AA 61683/129584)
Row 369783070 (NC_000011.10:3818062::AAA 232/129720)...

- Apr 27, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 369783068 (NC_000011.10:3818062::A 13855/129698)
Row 369783069 (NC_000011.10:3818062::AA 61683/129584)
Row 369783070 (NC_000011.10:3818062::AAA 232/129720)...

- Apr 27, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 369783068 (NC_000011.10:3818062::A 13855/129698)
Row 369783069 (NC_000011.10:3818062::AA 61683/129584)
Row 369783070 (NC_000011.10:3818062::AAA 232/129720)...

- Apr 27, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 369783068 (NC_000011.10:3818062::A 13855/129698)
Row 369783069 (NC_000011.10:3818062::AA 61683/129584)
Row 369783070 (NC_000011.10:3818062::AAA 232/129720)...

- Apr 27, 2021 (155)
57 KOREAN population from KRGDB NC_000011.9 - 3839293 Apr 26, 2020 (154)
58 Korean Genome Project

Submission ignored due to conflicting rows:
Row 25473798 (NC_000011.10:3818063::AA 839/1816)
Row 25473799 (NC_000011.10:3818063::AAA 84/1816)
Row 25473800 (NC_000011.10:3818063::A 21/1816)...

- Apr 26, 2020 (154)
59 Korean Genome Project

Submission ignored due to conflicting rows:
Row 25473798 (NC_000011.10:3818063::AA 839/1816)
Row 25473799 (NC_000011.10:3818063::AAA 84/1816)
Row 25473800 (NC_000011.10:3818063::A 21/1816)...

- Apr 26, 2020 (154)
60 Korean Genome Project

Submission ignored due to conflicting rows:
Row 25473798 (NC_000011.10:3818063::AA 839/1816)
Row 25473799 (NC_000011.10:3818063::AAA 84/1816)
Row 25473800 (NC_000011.10:3818063::A 21/1816)...

- Apr 26, 2020 (154)
61 Korean Genome Project

Submission ignored due to conflicting rows:
Row 25473798 (NC_000011.10:3818063::AA 839/1816)
Row 25473799 (NC_000011.10:3818063::AAA 84/1816)
Row 25473800 (NC_000011.10:3818063::A 21/1816)...

- Apr 26, 2020 (154)
62 Northern Sweden

Submission ignored due to conflicting rows:
Row 11151925 (NC_000011.9:3839292::A 73/580)
Row 11151926 (NC_000011.9:3839292::AA 320/580)

- Jul 13, 2019 (153)
63 Northern Sweden

Submission ignored due to conflicting rows:
Row 11151925 (NC_000011.9:3839292::A 73/580)
Row 11151926 (NC_000011.9:3839292::AA 320/580)

- Jul 13, 2019 (153)
64 8.3KJPN

Submission ignored due to conflicting rows:
Row 58402363 (NC_000011.9:3839292::AA 7672/15860)
Row 58402364 (NC_000011.9:3839292::A 29/15860)
Row 58402365 (NC_000011.9:3839292::AAA 12/15860)

- Apr 27, 2021 (155)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 58402363 (NC_000011.9:3839292::AA 7672/15860)
Row 58402364 (NC_000011.9:3839292::A 29/15860)
Row 58402365 (NC_000011.9:3839292::AAA 12/15860)

- Apr 27, 2021 (155)
66 8.3KJPN

Submission ignored due to conflicting rows:
Row 58402363 (NC_000011.9:3839292::AA 7672/15860)
Row 58402364 (NC_000011.9:3839292::A 29/15860)
Row 58402365 (NC_000011.9:3839292::AAA 12/15860)

- Apr 27, 2021 (155)
67 14KJPN

Submission ignored due to conflicting rows:
Row 80955662 (NC_000011.10:3818062::AA 12300/26232)
Row 80955664 (NC_000011.10:3818062::A 51/26232)
Row 80955665 (NC_000011.10:3818062::AAA 12/26232)

- Oct 16, 2022 (156)
68 14KJPN

Submission ignored due to conflicting rows:
Row 80955662 (NC_000011.10:3818062::AA 12300/26232)
Row 80955664 (NC_000011.10:3818062::A 51/26232)
Row 80955665 (NC_000011.10:3818062::AAA 12/26232)

- Oct 16, 2022 (156)
69 14KJPN

Submission ignored due to conflicting rows:
Row 80955662 (NC_000011.10:3818062::AA 12300/26232)
Row 80955664 (NC_000011.10:3818062::A 51/26232)
Row 80955665 (NC_000011.10:3818062::AAA 12/26232)

- Oct 16, 2022 (156)
70 ALFA NC_000011.10 - 3818063 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).

Associated ID History Updated (Build)
rs370293817 May 15, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4229114953 NC_000011.10:3818062:AA: NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAA

(self)
9086526214 NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAA

NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss554560731 NC_000011.9:3839304:A: NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3969095800, ss4229114952, ss5286204181, ss5481536473 NC_000011.10:3818062:A: NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
9086526214 NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3007499555, ss3737867060, ss5200433057, ss5836181626 NC_000011.9:3839292::A NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4229114947, ss5286204180, ss5481536470, ss5747118560 NC_000011.10:3818062::A NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
9086526214 NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3969095799 NC_000011.10:3818063::A NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss193215162 NT_009237.19:3758062::A NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss294686040 NC_000011.8:3795880::AA NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
52366535, 30922889, ss664050189, ss666522452, ss1370439062, ss1806665567, ss2627715972, ss3007499553, ss3737867061, ss3832444620, ss3923745495, ss3983994211, ss3986511598, ss5200433056, ss5836181625 NC_000011.9:3839292::AA NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3063677904, ss3814219544, ss4229114948, ss5286204178, ss5481536471, ss5747118558 NC_000011.10:3818062::AA NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
9086526214 NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3969095797 NC_000011.10:3818063::AA NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss5299391, ss80234617, ss95558794 NT_009237.18:3779305::AA NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3007499556, ss5200433058, ss5836181627 NC_000011.9:3839292::AAA NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4229114949, ss5286204182, ss5481536474, ss5747118561 NC_000011.10:3818062::AAA NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
9086526214 NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3969095798 NC_000011.10:3818063::AAA NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4229114950 NC_000011.10:3818062::AAAA NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
9086526214 NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000011.10:3818062:AAAAAAAAAAAAA…

NC_000011.10:3818062:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(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 rs112928434

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