Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

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.

rs1491551196

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:81338603-81338604 (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
insA
Variation Type
Insertion
Frequency
insA=0.00000 (0/11862, ALFA)
insA=0.0012 (5/4036, Estonian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PPFIA2 : Intron 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 11862 =1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 =1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2816 =1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 =1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2708 =1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 =1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 =1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 =1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 =1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 =1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 =1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 470 =1.000 A=0.000 1.0 0.0 0.0 N/A


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 11862 -

No frequency provided

insA=0.00000
Allele Frequency Aggregator European Sub 7618 -

No frequency provided

insA=0.0000
Allele Frequency Aggregator African Sub 2816 -

No frequency provided

insA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 -

No frequency provided

insA=0.000
Allele Frequency Aggregator Other Sub 470 -

No frequency provided

insA=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 -

No frequency provided

insA=0.000
Allele Frequency Aggregator Asian Sub 108 -

No frequency provided

insA=0.000
Allele Frequency Aggregator South Asian Sub 94 -

No frequency provided

insA=0.00
Genetic variation in the Estonian population Estonian Study-wide 4036 -

No frequency provided

insA=0.0012
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 12 NC_000012.12:g.81338603_81338604insA
GRCh37.p13 chr 12 NC_000012.11:g.81732382_81732383insA
Gene: PPFIA2, PTPRF interacting protein alpha 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PPFIA2 transcript variant 2 NM_001220473.3:c.2548+576…

NM_001220473.3:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant 3 NM_001220474.3:c.2494+576…

NM_001220474.3:c.2494+576_2494+577insT

N/A Intron Variant
PPFIA2 transcript variant 4 NM_001220475.2:c.2548+576…

NM_001220475.2:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant 5 NM_001220476.2:c.2548+576…

NM_001220476.2:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant 6 NM_001220477.2:c.2326+576…

NM_001220477.2:c.2326+576_2326+577insT

N/A Intron Variant
PPFIA2 transcript variant 7 NM_001220478.2:c.2251+576…

NM_001220478.2:c.2251+576_2251+577insT

N/A Intron Variant
PPFIA2 transcript variant 9 NM_001220479.3:c.1249+576…

NM_001220479.3:c.1249+576_1249+577insT

N/A Intron Variant
PPFIA2 transcript variant 10 NM_001220480.3:c.199+576_…

NM_001220480.3:c.199+576_199+577insT

N/A Intron Variant
PPFIA2 transcript variant 8 NM_001282536.1:c.2089+576…

NM_001282536.1:c.2089+576_2089+577insT

N/A Intron Variant
PPFIA2 transcript variant 1 NM_003625.5:c.2548+576_25…

NM_003625.5:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X8 XM_017020086.2:c.2548+576…

XM_017020086.2:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X11 XM_017020088.2:c.2494+576…

XM_017020088.2:c.2494+576_2494+577insT

N/A Intron Variant
PPFIA2 transcript variant X13 XM_017020090.3:c.2548+576…

XM_017020090.3:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X18 XM_017020094.3:c.2473+576…

XM_017020094.3:c.2473+576_2473+577insT

N/A Intron Variant
PPFIA2 transcript variant X21 XM_017020099.2:c.2494+576…

XM_017020099.2:c.2494+576_2494+577insT

N/A Intron Variant
PPFIA2 transcript variant X24 XM_017020103.3:c.2548+576…

XM_017020103.3:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X28 XM_017020105.2:c.2473+576…

XM_017020105.2:c.2473+576_2473+577insT

N/A Intron Variant
PPFIA2 transcript variant X29 XM_017020107.3:c.2548+576…

XM_017020107.3:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X31 XM_017020108.3:c.2548+576…

XM_017020108.3:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X36 XM_017020118.2:c.2248+576…

XM_017020118.2:c.2248+576_2248+577insT

N/A Intron Variant
PPFIA2 transcript variant X16 XM_024449240.2:c.2548+576…

XM_024449240.2:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X30 XM_024449241.2:c.2548+576…

XM_024449241.2:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X32 XM_024449242.2:c.2548+576…

XM_024449242.2:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X38 XM_024449244.2:c.2548+576…

XM_024449244.2:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X39 XM_024449245.2:c.1324+576…

XM_024449245.2:c.1324+576_1324+577insT

N/A Intron Variant
PPFIA2 transcript variant X1 XM_047429770.1:c.2548+576…

XM_047429770.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X2 XM_047429771.1:c.2548+576…

XM_047429771.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X3 XM_047429772.1:c.2548+576…

XM_047429772.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X4 XM_047429773.1:c.2548+576…

XM_047429773.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X5 XM_047429774.1:c.2548+576…

XM_047429774.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X6 XM_047429775.1:c.2548+576…

XM_047429775.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X7 XM_047429776.1:c.2548+576…

XM_047429776.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X9 XM_047429777.1:c.2548+576…

XM_047429777.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X10 XM_047429778.1:c.2548+576…

XM_047429778.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X12 XM_047429780.1:c.2494+576…

XM_047429780.1:c.2494+576_2494+577insT

N/A Intron Variant
PPFIA2 transcript variant X14 XM_047429781.1:c.2548+576…

XM_047429781.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X15 XM_047429782.1:c.2548+576…

XM_047429782.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X17 XM_047429783.1:c.2548+576…

XM_047429783.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X19 XM_047429784.1:c.2548+576…

XM_047429784.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X20 XM_047429785.1:c.2473+576…

XM_047429785.1:c.2473+576_2473+577insT

N/A Intron Variant
PPFIA2 transcript variant X22 XM_047429786.1:c.2548+576…

XM_047429786.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X23 XM_047429787.1:c.2548+576…

XM_047429787.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X25 XM_047429788.1:c.2473+576…

XM_047429788.1:c.2473+576_2473+577insT

N/A Intron Variant
PPFIA2 transcript variant X26 XM_047429789.1:c.2548+576…

XM_047429789.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X27 XM_047429790.1:c.2548+576…

XM_047429790.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X33 XM_047429791.1:c.2548+576…

XM_047429791.1:c.2548+576_2548+577insT

N/A Intron Variant
PPFIA2 transcript variant X34 XM_047429792.1:c.2266+576…

XM_047429792.1:c.2266+576_2266+577insT

N/A Intron Variant
PPFIA2 transcript variant X35 XM_047429793.1:c.2266+576…

XM_047429793.1:c.2266+576_2266+577insT

N/A Intron Variant
PPFIA2 transcript variant X37 XM_047429794.1:c.2089+576…

XM_047429794.1:c.2089+576_2089+577insT

N/A Intron Variant
PPFIA2 transcript variant X40 XM_047429795.1:c.2494+576…

XM_047429795.1:c.2494+576_2494+577insT

N/A Intron Variant
PPFIA2 transcript variant X41 XM_047429796.1:c.2494+576…

XM_047429796.1:c.2494+576_2494+577insT

N/A Intron 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 = insA
GRCh38.p14 chr 12 NC_000012.12:g.81338603_81338604= NC_000012.12:g.81338603_81338604insA
GRCh37.p13 chr 12 NC_000012.11:g.81732382_81732383= NC_000012.11:g.81732382_81732383insA
PPFIA2 transcript variant 2 NM_001220473.1:c.2548+576= NM_001220473.1:c.2548+576_2548+577insT
PPFIA2 transcript variant 2 NM_001220473.3:c.2548+576= NM_001220473.3:c.2548+576_2548+577insT
PPFIA2 transcript variant 3 NM_001220474.1:c.2494+576= NM_001220474.1:c.2494+576_2494+577insT
PPFIA2 transcript variant 3 NM_001220474.3:c.2494+576= NM_001220474.3:c.2494+576_2494+577insT
PPFIA2 transcript variant 4 NM_001220475.1:c.2548+576= NM_001220475.1:c.2548+576_2548+577insT
PPFIA2 transcript variant 4 NM_001220475.2:c.2548+576= NM_001220475.2:c.2548+576_2548+577insT
PPFIA2 transcript variant 5 NM_001220476.1:c.2548+576= NM_001220476.1:c.2548+576_2548+577insT
PPFIA2 transcript variant 5 NM_001220476.2:c.2548+576= NM_001220476.2:c.2548+576_2548+577insT
PPFIA2 transcript variant 6 NM_001220477.1:c.2326+576= NM_001220477.1:c.2326+576_2326+577insT
PPFIA2 transcript variant 6 NM_001220477.2:c.2326+576= NM_001220477.2:c.2326+576_2326+577insT
PPFIA2 transcript variant 7 NM_001220478.1:c.2251+576= NM_001220478.1:c.2251+576_2251+577insT
PPFIA2 transcript variant 7 NM_001220478.2:c.2251+576= NM_001220478.2:c.2251+576_2251+577insT
PPFIA2 transcript variant 9 NM_001220479.1:c.1249+576= NM_001220479.1:c.1249+576_1249+577insT
PPFIA2 transcript variant 9 NM_001220479.3:c.1249+576= NM_001220479.3:c.1249+576_1249+577insT
PPFIA2 transcript variant 10 NM_001220480.1:c.199+576= NM_001220480.1:c.199+576_199+577insT
PPFIA2 transcript variant 10 NM_001220480.3:c.199+576= NM_001220480.3:c.199+576_199+577insT
PPFIA2 transcript variant 8 NM_001282536.1:c.2089+576= NM_001282536.1:c.2089+576_2089+577insT
PPFIA2 transcript variant 1 NM_003625.3:c.2548+576= NM_003625.3:c.2548+576_2548+577insT
PPFIA2 transcript variant 1 NM_003625.5:c.2548+576= NM_003625.5:c.2548+576_2548+577insT
PPFIA2 transcript variant X8 XM_017020086.2:c.2548+576= XM_017020086.2:c.2548+576_2548+577insT
PPFIA2 transcript variant X11 XM_017020088.2:c.2494+576= XM_017020088.2:c.2494+576_2494+577insT
PPFIA2 transcript variant X13 XM_017020090.3:c.2548+576= XM_017020090.3:c.2548+576_2548+577insT
PPFIA2 transcript variant X18 XM_017020094.3:c.2473+576= XM_017020094.3:c.2473+576_2473+577insT
PPFIA2 transcript variant X21 XM_017020099.2:c.2494+576= XM_017020099.2:c.2494+576_2494+577insT
PPFIA2 transcript variant X24 XM_017020103.3:c.2548+576= XM_017020103.3:c.2548+576_2548+577insT
PPFIA2 transcript variant X28 XM_017020105.2:c.2473+576= XM_017020105.2:c.2473+576_2473+577insT
PPFIA2 transcript variant X29 XM_017020107.3:c.2548+576= XM_017020107.3:c.2548+576_2548+577insT
PPFIA2 transcript variant X31 XM_017020108.3:c.2548+576= XM_017020108.3:c.2548+576_2548+577insT
PPFIA2 transcript variant X36 XM_017020118.2:c.2248+576= XM_017020118.2:c.2248+576_2248+577insT
PPFIA2 transcript variant X16 XM_024449240.2:c.2548+576= XM_024449240.2:c.2548+576_2548+577insT
PPFIA2 transcript variant X30 XM_024449241.2:c.2548+576= XM_024449241.2:c.2548+576_2548+577insT
PPFIA2 transcript variant X32 XM_024449242.2:c.2548+576= XM_024449242.2:c.2548+576_2548+577insT
PPFIA2 transcript variant X38 XM_024449244.2:c.2548+576= XM_024449244.2:c.2548+576_2548+577insT
PPFIA2 transcript variant X39 XM_024449245.2:c.1324+576= XM_024449245.2:c.1324+576_1324+577insT
PPFIA2 transcript variant X1 XM_047429770.1:c.2548+576= XM_047429770.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X2 XM_047429771.1:c.2548+576= XM_047429771.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X3 XM_047429772.1:c.2548+576= XM_047429772.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X4 XM_047429773.1:c.2548+576= XM_047429773.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X5 XM_047429774.1:c.2548+576= XM_047429774.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X6 XM_047429775.1:c.2548+576= XM_047429775.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X7 XM_047429776.1:c.2548+576= XM_047429776.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X9 XM_047429777.1:c.2548+576= XM_047429777.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X10 XM_047429778.1:c.2548+576= XM_047429778.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X12 XM_047429780.1:c.2494+576= XM_047429780.1:c.2494+576_2494+577insT
PPFIA2 transcript variant X14 XM_047429781.1:c.2548+576= XM_047429781.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X15 XM_047429782.1:c.2548+576= XM_047429782.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X17 XM_047429783.1:c.2548+576= XM_047429783.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X19 XM_047429784.1:c.2548+576= XM_047429784.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X20 XM_047429785.1:c.2473+576= XM_047429785.1:c.2473+576_2473+577insT
PPFIA2 transcript variant X22 XM_047429786.1:c.2548+576= XM_047429786.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X23 XM_047429787.1:c.2548+576= XM_047429787.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X25 XM_047429788.1:c.2473+576= XM_047429788.1:c.2473+576_2473+577insT
PPFIA2 transcript variant X26 XM_047429789.1:c.2548+576= XM_047429789.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X27 XM_047429790.1:c.2548+576= XM_047429790.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X33 XM_047429791.1:c.2548+576= XM_047429791.1:c.2548+576_2548+577insT
PPFIA2 transcript variant X34 XM_047429792.1:c.2266+576= XM_047429792.1:c.2266+576_2266+577insT
PPFIA2 transcript variant X35 XM_047429793.1:c.2266+576= XM_047429793.1:c.2266+576_2266+577insT
PPFIA2 transcript variant X37 XM_047429794.1:c.2089+576= XM_047429794.1:c.2089+576_2089+577insT
PPFIA2 transcript variant X40 XM_047429795.1:c.2494+576= XM_047429795.1:c.2494+576_2494+577insT
PPFIA2 transcript variant X41 XM_047429796.1:c.2494+576= XM_047429796.1:c.2494+576_2494+577insT
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 EGCUT_WGS ss3677300777 Jul 13, 2019 (153)
2 Genetic variation in the Estonian population NC_000012.11 - 81732383 Oct 12, 2018 (152)
3 ALFA NC_000012.12 - 81338604 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
23039025, ss3677300777 NC_000012.11:81732382::A NC_000012.12:81338603::A (self)
13047983417 NC_000012.12:81338603::A NC_000012.12:81338603::A (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 rs1491551196

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