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.
rs1416247677
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:3811414 (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 (1/264690, TOPMED)A=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
PGAP2 : Missense VariantLOC124902618 : Non Coding Transcript Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 14050 | C=1.00000 | A=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | C=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | C=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | C=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
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=0.999996 | A=0.000004 |
| Allele Frequency Aggregator | Total | Global | 14050 | C=1.00000 | A=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | C=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | C=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=1.00 | A=0.00 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 11 | NC_000011.10:g.3811414C>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.3832644C>A |
| PGAP2 RefSeqGene | NG_051812.1:g.18691C>A |
Gene: PGAP2, post-GPI attachment to proteins 2
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PGAP2 transcript variant 18 |
NM_001283039.1:c.161+3099… NM_001283039.1:c.161+3099C>A |
N/A | Intron Variant |
| PGAP2 transcript variant 19 |
NM_001283040.1:c.161+3099… NM_001283040.1:c.161+3099C>A |
N/A | Intron Variant |
| PGAP2 transcript variant 28 | NM_001346401.2:c.-49= | N/A | 5 Prime UTR Variant |
| PGAP2 transcript variant 26 | NM_001346399.2:c.-49= | N/A | 5 Prime UTR Variant |
| PGAP2 transcript variant 2 | NM_001145438.2:c.326C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 2 | NP_001138910.1:p.Thr109Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 4 | NM_001256235.1:c.124C>A | H [CAC] > N [AAC] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 3 | NP_001243164.1:p.His42Asn | H (His) > N (Asn) | Missense Variant |
| PGAP2 transcript variant 5 | NM_001256236.1:c.326C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 4 | NP_001243165.1:p.Thr109Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 9 | NM_001256237.1:c.326C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 5 | NP_001243166.1:p.Thr109Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 10 | NM_001256238.1:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 6 | NP_001243167.1:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 17 | NM_001283038.1:c.326C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 9 | NP_001269967.1:p.Thr109Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 31 | NM_001346404.1:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 17 | NP_001333333.1:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 32 | NM_001346405.1:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 8 | NP_001333334.1:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 30 | NM_001346403.1:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 16 | NP_001333332.1:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 1 | NM_014489.4:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 1 | NP_055304.1:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 23 | NM_001346397.2:c.308C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 12 | NP_001333326.1:p.Thr103Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 24 | NM_001346398.2:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 8 | NP_001333327.1:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 12 | NM_001256240.2:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 8 | NP_001243169.1:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 27 | NM_001346400.2:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 7 | NP_001333329.1:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 29 | NM_001346402.2:c.190C>A | H [CAC] > N [AAC] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 15 | NP_001333331.1:p.His64Asn | H (His) > N (Asn) | Missense Variant |
| PGAP2 transcript variant 11 | NM_001256239.2:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform 7 | NP_001243168.1:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant 33 | NR_144428.2:n.257C>A | N/A | Non Coding Transcript Variant |
| PGAP2 transcript variant 13 | NR_045925.2:n.272C>A | N/A | Non Coding Transcript Variant |
| PGAP2 transcript variant 21 | NR_104271.2:n.272C>A | N/A | Non Coding Transcript Variant |
| PGAP2 transcript variant 7 | NR_027017.4:n.390C>A | N/A | Non Coding Transcript Variant |
| PGAP2 transcript variant 14 | NR_045926.2:n.272C>A | N/A | Non Coding Transcript Variant |
| PGAP2 transcript variant 6 | NR_027016.3: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 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 22 | NR_104272.2:n. | N/A | Intron Variant |
| PGAP2 transcript variant 25 | NR_144427.2: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.161+3099… XM_006718185.3:c.161+3099C>A |
N/A | Intron Variant |
| PGAP2 transcript variant X7 |
XM_047426779.1:c.-50+3099… XM_047426779.1:c.-50+3099C>A |
N/A | Intron Variant |
| PGAP2 transcript variant X11 |
XM_047426780.1:c.161+3099… XM_047426780.1:c.161+3099C>A |
N/A | Intron Variant |
| PGAP2 transcript variant X17 |
XM_047426782.1:c.161+3099… XM_047426782.1:c.161+3099C>A |
N/A | Intron Variant |
| PGAP2 transcript variant X22 |
XM_047426786.1:c.-16+3099… XM_047426786.1:c.-16+3099C>A |
N/A | Intron Variant |
| PGAP2 transcript variant X23 |
XM_047426787.1:c.-16+3099… XM_047426787.1:c.-16+3099C>A |
N/A | Intron Variant |
| PGAP2 transcript variant X24 |
XM_047426788.1:c.143+3099… XM_047426788.1:c.143+3099C>A |
N/A | Intron Variant |
| PGAP2 transcript variant X25 |
XM_047426789.1:c.-39+3099… XM_047426789.1:c.-39+3099C>A |
N/A | Intron Variant |
| PGAP2 transcript variant X26 |
XM_047426790.1:c.-39+2763… XM_047426790.1:c.-39+2763C>A |
N/A | Intron Variant |
| PGAP2 transcript variant X27 |
XM_047426792.1:c.-39+3099… XM_047426792.1:c.-39+3099C>A |
N/A | Intron Variant |
| PGAP2 transcript variant X28 |
XM_047426793.1:c.143+3099… XM_047426793.1:c.143+3099C>A |
N/A | Intron Variant |
| PGAP2 transcript variant X13 | XM_006718181.4:c. | N/A | Genic Upstream Transcript Variant |
| PGAP2 transcript variant X29 | XM_047426783.1:c. | N/A | Genic Upstream Transcript Variant |
| PGAP2 transcript variant X30 | XM_047426791.1:c. | N/A | Genic Upstream Transcript Variant |
| PGAP2 transcript variant X1 | XM_011519990.3:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X1 | XP_011518292.3:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant X2 | XM_011519991.3:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X2 | XP_011518293.3:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant X3 | XM_011519992.2:c.190C>A | H [CAC] > N [AAC] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X3 | XP_011518294.1:p.His64Asn | H (His) > N (Asn) | Missense Variant |
| PGAP2 transcript variant X4 | XM_047426776.1:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X4 | XP_047282732.1:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant X5 | XM_047426777.1:c.326C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X5 | XP_047282733.1:p.Thr109Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant X6 | XM_047426778.1:c.190C>A | H [CAC] > N [AAC] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X6 | XP_047282734.1:p.His64Asn | H (His) > N (Asn) | Missense Variant |
| PGAP2 transcript variant X8 | XM_011519996.2:c.190C>A | H [CAC] > N [AAC] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X8 | XP_011518298.1:p.His64Asn | H (His) > N (Asn) | Missense Variant |
| PGAP2 transcript variant X9 | XM_011519998.3:c.124C>A | H [CAC] > N [AAC] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X9 | XP_011518300.1:p.His42Asn | H (His) > N (Asn) | Missense Variant |
| PGAP2 transcript variant X10 | XM_011519999.2:c.124C>A | H [CAC] > N [AAC] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X9 | XP_011518301.1:p.His42Asn | H (His) > N (Asn) | Missense Variant |
| PGAP2 transcript variant X12 | XM_011520002.2:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X11 | XP_011518304.1:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant X14 | XM_011520004.3:c.308C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X13 | XP_011518306.2:p.Thr103Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant X15 | XM_047426781.1:c.155C>A | T [ACA] > K [AAA] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X2 | XP_047282737.1:p.Thr52Lys | T (Thr) > K (Lys) | Missense Variant |
| PGAP2 transcript variant X18 | XM_024448443.2:c.124C>A | H [CAC] > N [AAC] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X16 | XP_024304211.1:p.His42Asn | H (His) > N (Asn) | Missense Variant |
| PGAP2 transcript variant X19 | XM_024448444.2:c.124C>A | H [CAC] > N [AAC] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X16 | XP_024304212.1:p.His42Asn | H (His) > N (Asn) | Missense Variant |
| PGAP2 transcript variant X20 | XM_047426784.1:c.190C>A | H [CAC] > N [AAC] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X17 | XP_047282740.1:p.His64Asn | H (His) > N (Asn) | Missense Variant |
| PGAP2 transcript variant X21 | XM_047426785.1:c.190C>A | H [CAC] > N [AAC] | Coding Sequence Variant |
| post-GPI attachment to proteins factor 2 isoform X18 | XP_047282741.1:p.His64Asn | H (His) > N (Asn) | Missense Variant |
Gene: LOC124902618, uncharacterized LOC124902618
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LOC124902618 transcript | XR_007062559.1:n.303G>T | 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= | A |
|---|---|---|
| GRCh38.p14 chr 11 | NC_000011.10:g.3811414= | NC_000011.10:g.3811414C>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.3832644= | NC_000011.9:g.3832644C>A |
| PGAP2 RefSeqGene | NG_051812.1:g.18691= | NG_051812.1:g.18691C>A |
| PGAP2 transcript variant 7 | NR_027017.4:n.390= | NR_027017.4:n.390C>A |
| PGAP2 transcript variant 7 | NR_027017.3:n.469= | NR_027017.3:n.469C>A |
| PGAP2 transcript variant 7 | NR_027017.2:n.329= | NR_027017.2:n.329C>A |
| PGAP2 transcript variant 1 | NM_014489.4:c.155= | NM_014489.4:c.155C>A |
| PGAP2 transcript variant 1 | NM_014489.3:c.155= | NM_014489.3:c.155C>A |
| PGAP2 transcript variant 33 | NR_144428.2:n.257= | NR_144428.2:n.257C>A |
| PGAP2 transcript variant 33 | NR_144428.1:n.281= | NR_144428.1:n.281C>A |
| PGAP2 transcript variant 28 | NM_001346401.2:c.-49= | NM_001346401.2:c.-49C>A |
| PGAP2 transcript variant 28 | NM_001346401.1:c.-49= | NM_001346401.1:c.-49C>A |
| PGAP2 transcript variant 26 | NM_001346399.2:c.-49= | NM_001346399.2:c.-49C>A |
| PGAP2 transcript variant 26 | NM_001346399.1:c.-49= | NM_001346399.1:c.-49C>A |
| PGAP2 transcript variant 23 | NM_001346397.2:c.308= | NM_001346397.2:c.308C>A |
| PGAP2 transcript variant 23 | NM_001346397.1:c.308= | NM_001346397.1:c.308C>A |
| PGAP2 transcript variant 29 | NM_001346402.2:c.190= | NM_001346402.2:c.190C>A |
| PGAP2 transcript variant 29 | NM_001346402.1:c.190= | NM_001346402.1:c.190C>A |
| PGAP2 transcript variant 21 | NR_104271.2:n.272= | NR_104271.2:n.272C>A |
| PGAP2 transcript variant 21 | NR_104271.1:n.351= | NR_104271.1:n.351C>A |
| PGAP2 transcript variant 2 | NM_001145438.2:c.326= | NM_001145438.2:c.326C>A |
| PGAP2 transcript variant 24 | NM_001346398.2:c.155= | NM_001346398.2:c.155C>A |
| PGAP2 transcript variant 24 | NM_001346398.1:c.155= | NM_001346398.1:c.155C>A |
| PGAP2 transcript variant 12 | NM_001256240.2:c.155= | NM_001256240.2:c.155C>A |
| PGAP2 transcript variant 12 | NM_001256240.1:c.155= | NM_001256240.1:c.155C>A |
| PGAP2 transcript variant 27 | NM_001346400.2:c.155= | NM_001346400.2:c.155C>A |
| PGAP2 transcript variant 27 | NM_001346400.1:c.155= | NM_001346400.1:c.155C>A |
| PGAP2 transcript variant 11 | NM_001256239.2:c.155= | NM_001256239.2:c.155C>A |
| PGAP2 transcript variant 11 | NM_001256239.1:c.155= | NM_001256239.1:c.155C>A |
| PGAP2 transcript variant 14 | NR_045926.2:n.272= | NR_045926.2:n.272C>A |
| PGAP2 transcript variant 14 | NR_045926.1:n.351= | NR_045926.1:n.351C>A |
| PGAP2 transcript variant 13 | NR_045925.2:n.272= | NR_045925.2:n.272C>A |
| PGAP2 transcript variant 13 | NR_045925.1:n.351= | NR_045925.1:n.351C>A |
| PGAP2 transcript variant 5 | NM_001256236.1:c.326= | NM_001256236.1:c.326C>A |
| PGAP2 transcript variant 30 | NM_001346403.1:c.155= | NM_001346403.1:c.155C>A |
| PGAP2 transcript variant 9 | NM_001256237.1:c.326= | NM_001256237.1:c.326C>A |
| PGAP2 transcript variant 17 | NM_001283038.1:c.326= | NM_001283038.1:c.326C>A |
| PGAP2 transcript variant 31 | NM_001346404.1:c.155= | NM_001346404.1:c.155C>A |
| PGAP2 transcript variant 10 | NM_001256238.1:c.155= | NM_001256238.1:c.155C>A |
| PGAP2 transcript variant 4 | NM_001256235.1:c.124= | NM_001256235.1:c.124C>A |
| PGAP2 transcript variant 32 | NM_001346405.1:c.155= | NM_001346405.1:c.155C>A |
| PGAP2 transcript variant X9 | XM_011519998.3:c.124= | XM_011519998.3:c.124C>A |
| PGAP2 transcript variant X8 | XM_011519998.2:c.124= | XM_011519998.2:c.124C>A |
| PGAP2 transcript variant X9 | XM_011519998.1:c.124= | XM_011519998.1:c.124C>A |
| PGAP2 transcript variant X14 | XM_011520004.3:c.308= | XM_011520004.3:c.308C>A |
| PGAP2 transcript variant X13 | XM_011520004.2:c.155= | XM_011520004.2:c.155C>A |
| PGAP2 transcript variant X16 | XM_011520004.1:c.155= | XM_011520004.1:c.155C>A |
| PGAP2 transcript variant X1 | XM_011519990.3:c.155= | XM_011519990.3:c.155C>A |
| PGAP2 transcript variant X1 | XM_011519990.2:c.383= | XM_011519990.2:c.383C>A |
| PGAP2 transcript variant X1 | XM_011519990.1:c.155= | XM_011519990.1:c.155C>A |
| PGAP2 transcript variant X2 | XM_011519991.3:c.155= | XM_011519991.3:c.155C>A |
| PGAP2 transcript variant X2 | XM_011519991.2:c.383= | XM_011519991.2:c.383C>A |
| PGAP2 transcript variant X2 | XM_011519991.1:c.155= | XM_011519991.1:c.155C>A |
| PGAP2 transcript variant X3 | XM_011519992.2:c.190= | XM_011519992.2:c.190C>A |
| PGAP2 transcript variant X3 | XM_011519992.1:c.190= | XM_011519992.1:c.190C>A |
| PGAP2 transcript variant X8 | XM_011519996.2:c.190= | XM_011519996.2:c.190C>A |
| PGAP2 transcript variant X6 | XM_011519996.1:c.190= | XM_011519996.1:c.190C>A |
| PGAP2 transcript variant X10 | XM_011519999.2:c.124= | XM_011519999.2:c.124C>A |
| PGAP2 transcript variant X9 | XM_011519999.1:c.124= | XM_011519999.1:c.124C>A |
| PGAP2 transcript variant X19 | XM_024448444.2:c.124= | XM_024448444.2:c.124C>A |
| PGAP2 transcript variant X19 | XM_024448444.1:c.124= | XM_024448444.1:c.124C>A |
| PGAP2 transcript variant X18 | XM_024448443.2:c.124= | XM_024448443.2:c.124C>A |
| PGAP2 transcript variant X18 | XM_024448443.1:c.124= | XM_024448443.1:c.124C>A |
| PGAP2 transcript variant X12 | XM_011520002.2:c.155= | XM_011520002.2:c.155C>A |
| PGAP2 transcript variant X10 | XM_011520002.1:c.155= | XM_011520002.1:c.155C>A |
| PGAP2 transcript variant X6 | XM_047426778.1:c.190= | XM_047426778.1:c.190C>A |
| PGAP2 transcript variant X5 | XM_047426777.1:c.326= | XM_047426777.1:c.326C>A |
| PGAP2 transcript variant 5 | NR_027015.1:n.268= | NR_027015.1:n.268C>A |
| PGAP2 transcript variant X15 | XM_047426781.1:c.155= | XM_047426781.1:c.155C>A |
| PGAP2 transcript variant 4 | NR_027014.1:n.207= | NR_027014.1:n.207C>A |
| PGAP2 transcript variant X4 | XM_047426776.1:c.155= | XM_047426776.1:c.155C>A |
| PGAP2 transcript variant X20 | XM_047426784.1:c.190= | XM_047426784.1:c.190C>A |
| PGAP2 transcript variant X21 | XM_047426785.1:c.190= | XM_047426785.1:c.190C>A |
| LOC124902618 transcript | XR_007062559.1:n.303= | XR_007062559.1:n.303G>T |
| post-GPI attachment to proteins factor 2 isoform 1 | NP_055304.1:p.Thr52= | NP_055304.1:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform 12 | NP_001333326.1:p.Thr103= | NP_001333326.1:p.Thr103Lys |
| post-GPI attachment to proteins factor 2 isoform 15 | NP_001333331.1:p.His64= | NP_001333331.1:p.His64Asn |
| post-GPI attachment to proteins factor 2 isoform 2 | NP_001138910.1:p.Thr109= | NP_001138910.1:p.Thr109Lys |
| post-GPI attachment to proteins factor 2 isoform 8 | NP_001333327.1:p.Thr52= | NP_001333327.1:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform 8 | NP_001243169.1:p.Thr52= | NP_001243169.1:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform 7 | NP_001333329.1:p.Thr52= | NP_001333329.1:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform 7 | NP_001243168.1:p.Thr52= | NP_001243168.1:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform 4 | NP_001243165.1:p.Thr109= | NP_001243165.1:p.Thr109Lys |
| post-GPI attachment to proteins factor 2 isoform 16 | NP_001333332.1:p.Thr52= | NP_001333332.1:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform 5 | NP_001243166.1:p.Thr109= | NP_001243166.1:p.Thr109Lys |
| post-GPI attachment to proteins factor 2 isoform 9 | NP_001269967.1:p.Thr109= | NP_001269967.1:p.Thr109Lys |
| post-GPI attachment to proteins factor 2 isoform 17 | NP_001333333.1:p.Thr52= | NP_001333333.1:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform 6 | NP_001243167.1:p.Thr52= | NP_001243167.1:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform 3 | NP_001243164.1:p.His42= | NP_001243164.1:p.His42Asn |
| post-GPI attachment to proteins factor 2 isoform 8 | NP_001333334.1:p.Thr52= | NP_001333334.1:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform X9 | XP_011518300.1:p.His42= | XP_011518300.1:p.His42Asn |
| post-GPI attachment to proteins factor 2 isoform X13 | XP_011518306.2:p.Thr103= | XP_011518306.2:p.Thr103Lys |
| post-GPI attachment to proteins factor 2 isoform X1 | XP_011518292.3:p.Thr52= | XP_011518292.3:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform X2 | XP_011518293.3:p.Thr52= | XP_011518293.3:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform X3 | XP_011518294.1:p.His64= | XP_011518294.1:p.His64Asn |
| post-GPI attachment to proteins factor 2 isoform X8 | XP_011518298.1:p.His64= | XP_011518298.1:p.His64Asn |
| post-GPI attachment to proteins factor 2 isoform X9 | XP_011518301.1:p.His42= | XP_011518301.1:p.His42Asn |
| post-GPI attachment to proteins factor 2 isoform X16 | XP_024304212.1:p.His42= | XP_024304212.1:p.His42Asn |
| post-GPI attachment to proteins factor 2 isoform X16 | XP_024304211.1:p.His42= | XP_024304211.1:p.His42Asn |
| post-GPI attachment to proteins factor 2 isoform X11 | XP_011518304.1:p.Thr52= | XP_011518304.1:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform X6 | XP_047282734.1:p.His64= | XP_047282734.1:p.His64Asn |
| post-GPI attachment to proteins factor 2 isoform X5 | XP_047282733.1:p.Thr109= | XP_047282733.1:p.Thr109Lys |
| post-GPI attachment to proteins factor 2 isoform X2 | XP_047282737.1:p.Thr52= | XP_047282737.1:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform X4 | XP_047282732.1:p.Thr52= | XP_047282732.1:p.Thr52Lys |
| post-GPI attachment to proteins factor 2 isoform X17 | XP_047282740.1:p.His64= | XP_047282740.1:p.His64Asn |
| post-GPI attachment to proteins factor 2 isoform X18 | XP_047282741.1:p.His64= | XP_047282741.1:p.His64Asn |
| PGAP2 transcript variant 18 | NM_001283039.1:c.161+3099= | NM_001283039.1:c.161+3099C>A |
| PGAP2 transcript variant 19 | NM_001283040.1:c.161+3099= | NM_001283040.1:c.161+3099C>A |
| PGAP2 transcript variant X16 | XM_006718185.3:c.161+3099= | XM_006718185.3:c.161+3099C>A |
| PGAP2 transcript variant X7 | XM_047426779.1:c.-50+3099= | XM_047426779.1:c.-50+3099C>A |
| PGAP2 transcript variant X11 | XM_047426780.1:c.161+3099= | XM_047426780.1:c.161+3099C>A |
| PGAP2 transcript variant X17 | XM_047426782.1:c.161+3099= | XM_047426782.1:c.161+3099C>A |
| PGAP2 transcript variant X22 | XM_047426786.1:c.-16+3099= | XM_047426786.1:c.-16+3099C>A |
| PGAP2 transcript variant X23 | XM_047426787.1:c.-16+3099= | XM_047426787.1:c.-16+3099C>A |
| PGAP2 transcript variant X24 | XM_047426788.1:c.143+3099= | XM_047426788.1:c.143+3099C>A |
| PGAP2 transcript variant X25 | XM_047426789.1:c.-39+3099= | XM_047426789.1:c.-39+3099C>A |
| PGAP2 transcript variant X26 | XM_047426790.1:c.-39+2763= | XM_047426790.1:c.-39+2763C>A |
| PGAP2 transcript variant X27 | XM_047426792.1:c.-39+3099= | XM_047426792.1:c.-39+3099C>A |
| PGAP2 transcript variant X28 | XM_047426793.1:c.143+3099= | XM_047426793.1:c.143+3099C>A |
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,
2 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TOPMED | ss4873315469 | Apr 27, 2021 (155) |
| 2 | TopMed | NC_000011.10 - 3811414 | Apr 27, 2021 (155) |
| 3 | ALFA | NC_000011.10 - 3811414 | 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).
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 rs1416247677
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
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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.
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.