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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1490099144

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:121302008-121302009 (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
dupA
Variation Type
Indel Insertion and Deletion
Frequency
dupA=0.000007 (1/140294, GnomAD)
dupA=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GSN : Frameshift 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 10680 AA=1.00000 AAA=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 AA=1.0000 AAA=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 AA=1.0000 AAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 AA=1.00 AAA=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 AA=1.0000 AAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 AA=1.000 AAA=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 AA=1.00 AAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 AA=1.00 AAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 AA=1.000 AAA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 AA=1.000 AAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 AA=1.00 AAA=0.00 1.0 0.0 0.0 N/A
Other Sub 466 AA=1.000 AAA=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
gnomAD - Genomes Global Study-wide 140294 -

No frequency provided

 dupA=0.000007
gnomAD - Genomes European Sub 75966 -

No frequency provided

 dupA=0.00001
gnomAD - Genomes African Sub 42052 -

No frequency provided

 dupA=0.00000
gnomAD - Genomes American Sub 13664 -

No frequency provided

 dupA=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 -

No frequency provided

 dupA=0.0000
gnomAD - Genomes East Asian Sub 3134 -

No frequency provided

 dupA=0.0000
gnomAD - Genomes Other Sub 2154 -

No frequency provided

 dupA=0.0000
Allele Frequency Aggregator Total Global 10680 AA=1.00000 dupA=0.00000
Allele Frequency Aggregator European Sub 6962 AA=1.0000 dupA=0.0000
Allele Frequency Aggregator African Sub 2294 AA=1.0000 dupA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 AA=1.000 dupA=0.000
Allele Frequency Aggregator Other Sub 466 AA=1.000 dupA=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 AA=1.000 dupA=0.000
Allele Frequency Aggregator Asian Sub 108 AA=1.000 dupA=0.000
Allele Frequency Aggregator South Asian Sub 94 AA=1.00 dupA=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 9 NC_000009.12:g.121302009dup
GRCh37.p13 chr 9 NC_000009.11:g.124064287dup
GSN RefSeqGene NG_012872.2:g.105928dup
Gene: GSN, gelsolin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GSN transcript variant 36 NM_001353078.2:c.-458-902…

NM_001353078.2:c.-458-902dup

 		N/A Intron Variant
GSN transcript variant 12 NM_001353054.1:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001339983.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 20 NM_001353062.1:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001339991.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 33 NM_001353075.1:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001340004.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 35 NM_001353077.1:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001340006.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 11 NM_001353053.1:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001339982.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 3 NM_001127662.2:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001121134.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 25 NM_001353067.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001339996.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 4 NM_001127663.2:c.146dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform f NP_001121135.2:p.Glu50fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 15 NM_001353057.2:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001339986.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 28 NM_001353070.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001339999.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 2 NM_198252.3:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_937895.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 1 NM_000177.5:c.191dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform a precursor NP_000168.1:p.Glu65fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 5 NM_001127664.2:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001121136.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 34 NM_001353076.2:c.110dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform g NP_001340005.1:p.Glu38fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 22 NM_001353064.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001339993.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 32 NM_001353074.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001340003.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 6 NM_001127665.2:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001121137.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 10 NM_001258030.2:c.62dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform e NP_001244959.1:p.Glu22fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 7 NM_001127666.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001121138.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 27 NM_001353069.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001339998.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 14 NM_001353056.2:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001339985.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 17 NM_001353059.2:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001339988.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 19 NM_001353061.2:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001339990.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 30 NM_001353072.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001340001.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 16 NM_001353058.2:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001339987.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 24 NM_001353066.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001339995.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 8 NM_001127667.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001121139.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 18 NM_001353060.2:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001339989.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 21 NM_001353063.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001339992.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 31 NM_001353073.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001340002.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 13 NM_001353055.2:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform b NP_001339984.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 23 NM_001353065.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001339994.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 29 NM_001353071.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001340000.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 26 NM_001353068.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform c NP_001339997.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant 9 NM_001258029.2:c.89dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform d NP_001244958.1:p.Glu31fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant X13 XM_011518594.2:c. N/A Genic Upstream Transcript Variant
GSN transcript variant X1 XM_047423265.1:c.185dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform X1 XP_047279221.1:p.Glu63fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant X2 XM_011518585.2:c.128dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform X2 XP_011516887.1:p.Glu44fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant X3 XM_047423266.1:c.101dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform X3 XP_047279222.1:p.Glu35fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant X4 XM_017014645.2:c.101dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform X3 XP_016870134.1:p.Glu35fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant X5 XM_047423267.1:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform X4 XP_047279223.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant X6 XM_005251944.2:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform X4 XP_005252001.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant X7 XM_047423268.1:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform X4 XP_047279224.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant X8 XM_047423269.1:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform X4 XP_047279225.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant X9 XM_047423270.1:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform X4 XP_047279226.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant X10 XM_047423271.1:c.71dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform X4 XP_047279227.1:p.Glu25fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant X11 XM_047423272.1:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform X5 XP_047279228.1:p.Glu14fs K (Lys) > K (Lys) Frameshift Variant
GSN transcript variant X12 XM_047423273.1:c.38dup K [AAG] > K [AAAG] Coding Sequence Variant
gelsolin isoform X5 XP_047279229.1:p.Glu14fs K (Lys) > K (Lys) Frameshift 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 AA= dupA
GRCh38.p14 chr 9 NC_000009.12:g.121302008_121302009= NC_000009.12:g.121302009dup
GRCh37.p13 chr 9 NC_000009.11:g.124064286_124064287= NC_000009.11:g.124064287dup
GSN RefSeqGene NG_012872.2:g.105927_105928= NG_012872.2:g.105928dup
GSN transcript variant 1 NM_000177.5:c.190_191= NM_000177.5:c.191dup
GSN transcript variant 1 NM_000177.4:c.190_191= NM_000177.4:c.191dup
GSN transcript variant 2 NM_198252.3:c.37_38= NM_198252.3:c.38dup
GSN transcript variant 2 NM_198252.2:c.37_38= NM_198252.2:c.38dup
GSN transcript variant 17 NM_001353059.2:c.37_38= NM_001353059.2:c.38dup
GSN transcript variant 17 NM_001353059.1:c.37_38= NM_001353059.1:c.38dup
GSN transcript variant 24 NM_001353066.2:c.70_71= NM_001353066.2:c.71dup
GSN transcript variant 24 NM_001353066.1:c.70_71= NM_001353066.1:c.71dup
GSN transcript variant 31 NM_001353073.2:c.70_71= NM_001353073.2:c.71dup
GSN transcript variant 31 NM_001353073.1:c.70_71= NM_001353073.1:c.71dup
GSN transcript variant 29 NM_001353071.2:c.70_71= NM_001353071.2:c.71dup
GSN transcript variant 29 NM_001353071.1:c.70_71= NM_001353071.1:c.71dup
GSN transcript variant 19 NM_001353061.2:c.37_38= NM_001353061.2:c.38dup
GSN transcript variant 19 NM_001353061.1:c.37_38= NM_001353061.1:c.38dup
GSN transcript variant 16 NM_001353058.2:c.37_38= NM_001353058.2:c.38dup
GSN transcript variant 16 NM_001353058.1:c.37_38= NM_001353058.1:c.38dup
GSN transcript variant 30 NM_001353072.2:c.70_71= NM_001353072.2:c.71dup
GSN transcript variant 30 NM_001353072.1:c.70_71= NM_001353072.1:c.71dup
GSN transcript variant 27 NM_001353069.2:c.70_71= NM_001353069.2:c.71dup
GSN transcript variant 27 NM_001353069.1:c.70_71= NM_001353069.1:c.71dup
GSN transcript variant 26 NM_001353068.2:c.70_71= NM_001353068.2:c.71dup
GSN transcript variant 26 NM_001353068.1:c.70_71= NM_001353068.1:c.71dup
GSN transcript variant 32 NM_001353074.2:c.70_71= NM_001353074.2:c.71dup
GSN transcript variant 32 NM_001353074.1:c.70_71= NM_001353074.1:c.71dup
GSN transcript variant 23 NM_001353065.2:c.70_71= NM_001353065.2:c.71dup
GSN transcript variant 23 NM_001353065.1:c.70_71= NM_001353065.1:c.71dup
GSN transcript variant 22 NM_001353064.2:c.70_71= NM_001353064.2:c.71dup
GSN transcript variant 22 NM_001353064.1:c.70_71= NM_001353064.1:c.71dup
GSN transcript variant 4 NM_001127663.2:c.145_146= NM_001127663.2:c.146dup
GSN transcript variant 4 NM_001127663.1:c.145_146= NM_001127663.1:c.146dup
GSN transcript variant 34 NM_001353076.2:c.109_110= NM_001353076.2:c.110dup
GSN transcript variant 34 NM_001353076.1:c.109_110= NM_001353076.1:c.110dup
GSN transcript variant 14 NM_001353056.2:c.37_38= NM_001353056.2:c.38dup
GSN transcript variant 14 NM_001353056.1:c.37_38= NM_001353056.1:c.38dup
GSN transcript variant 5 NM_001127664.2:c.37_38= NM_001127664.2:c.38dup
GSN transcript variant 5 NM_001127664.1:c.37_38= NM_001127664.1:c.38dup
GSN transcript variant 6 NM_001127665.2:c.37_38= NM_001127665.2:c.38dup
GSN transcript variant 6 NM_001127665.1:c.37_38= NM_001127665.1:c.38dup
GSN transcript variant 7 NM_001127666.2:c.70_71= NM_001127666.2:c.71dup
GSN transcript variant 7 NM_001127666.1:c.70_71= NM_001127666.1:c.71dup
GSN transcript variant 10 NM_001258030.2:c.61_62= NM_001258030.2:c.62dup
GSN transcript variant 10 NM_001258030.1:c.61_62= NM_001258030.1:c.62dup
GSN transcript variant 8 NM_001127667.2:c.70_71= NM_001127667.2:c.71dup
GSN transcript variant 8 NM_001127667.1:c.70_71= NM_001127667.1:c.71dup
GSN transcript variant 28 NM_001353070.2:c.70_71= NM_001353070.2:c.71dup
GSN transcript variant 28 NM_001353070.1:c.70_71= NM_001353070.1:c.71dup
GSN transcript variant 18 NM_001353060.2:c.37_38= NM_001353060.2:c.38dup
GSN transcript variant 18 NM_001353060.1:c.37_38= NM_001353060.1:c.38dup
GSN transcript variant 13 NM_001353055.2:c.37_38= NM_001353055.2:c.38dup
GSN transcript variant 13 NM_001353055.1:c.37_38= NM_001353055.1:c.38dup
GSN transcript variant 15 NM_001353057.2:c.37_38= NM_001353057.2:c.38dup
GSN transcript variant 15 NM_001353057.1:c.37_38= NM_001353057.1:c.38dup
GSN transcript variant 25 NM_001353067.2:c.70_71= NM_001353067.2:c.71dup
GSN transcript variant 25 NM_001353067.1:c.70_71= NM_001353067.1:c.71dup
GSN transcript variant 21 NM_001353063.2:c.70_71= NM_001353063.2:c.71dup
GSN transcript variant 21 NM_001353063.1:c.70_71= NM_001353063.1:c.71dup
GSN transcript variant 9 NM_001258029.2:c.88_89= NM_001258029.2:c.89dup
GSN transcript variant 9 NM_001258029.1:c.88_89= NM_001258029.1:c.89dup
GSN transcript variant 3 NM_001127662.2:c.37_38= NM_001127662.2:c.38dup
GSN transcript variant 3 NM_001127662.1:c.37_38= NM_001127662.1:c.38dup
GSN transcript variant 11 NM_001353053.1:c.37_38= NM_001353053.1:c.38dup
GSN transcript variant 12 NM_001353054.1:c.37_38= NM_001353054.1:c.38dup
GSN transcript variant 20 NM_001353062.1:c.37_38= NM_001353062.1:c.38dup
GSN transcript variant 33 NM_001353075.1:c.70_71= NM_001353075.1:c.71dup
GSN transcript variant 35 NM_001353077.1:c.70_71= NM_001353077.1:c.71dup
GSN transcript variant X4 XM_017014645.2:c.100_101= XM_017014645.2:c.101dup
GSN transcript variant X4 XM_017014645.1:c.100_101= XM_017014645.1:c.101dup
GSN transcript variant X2 XM_011518585.2:c.127_128= XM_011518585.2:c.128dup
GSN transcript variant X3 XM_011518585.1:c.127_128= XM_011518585.1:c.128dup
GSN transcript variant X6 XM_005251944.2:c.70_71= XM_005251944.2:c.71dup
GSN transcript variant X6 XM_005251944.1:c.70_71= XM_005251944.1:c.71dup
GSN transcript variant X8 XM_047423269.1:c.70_71= XM_047423269.1:c.71dup
GSN transcript variant X12 XM_047423273.1:c.37_38= XM_047423273.1:c.38dup
GSN transcript variant X5 XM_047423267.1:c.70_71= XM_047423267.1:c.71dup
GSN transcript variant X7 XM_047423268.1:c.70_71= XM_047423268.1:c.71dup
GSN transcript variant X11 XM_047423272.1:c.37_38= XM_047423272.1:c.38dup
GSN transcript variant X1 XM_047423265.1:c.184_185= XM_047423265.1:c.185dup
GSN transcript variant X9 XM_047423270.1:c.70_71= XM_047423270.1:c.71dup
GSN transcript variant X3 XM_047423266.1:c.100_101= XM_047423266.1:c.101dup
GSN transcript variant X10 XM_047423271.1:c.70_71= XM_047423271.1:c.71dup
gelsolin isoform a precursor NP_000168.1:p.Lys64= NP_000168.1:p.Glu65fs
gelsolin isoform b NP_937895.1:p.Lys13= NP_937895.1:p.Glu14fs
gelsolin isoform b NP_001339988.1:p.Lys13= NP_001339988.1:p.Glu14fs
gelsolin isoform c NP_001339995.1:p.Lys24= NP_001339995.1:p.Glu25fs
gelsolin isoform c NP_001340002.1:p.Lys24= NP_001340002.1:p.Glu25fs
gelsolin isoform c NP_001340000.1:p.Lys24= NP_001340000.1:p.Glu25fs
gelsolin isoform b NP_001339990.1:p.Lys13= NP_001339990.1:p.Glu14fs
gelsolin isoform b NP_001339987.1:p.Lys13= NP_001339987.1:p.Glu14fs
gelsolin isoform c NP_001340001.1:p.Lys24= NP_001340001.1:p.Glu25fs
gelsolin isoform c NP_001339998.1:p.Lys24= NP_001339998.1:p.Glu25fs
gelsolin isoform c NP_001339997.1:p.Lys24= NP_001339997.1:p.Glu25fs
gelsolin isoform c NP_001340003.1:p.Lys24= NP_001340003.1:p.Glu25fs
gelsolin isoform c NP_001339994.1:p.Lys24= NP_001339994.1:p.Glu25fs
gelsolin isoform c NP_001339993.1:p.Lys24= NP_001339993.1:p.Glu25fs
gelsolin isoform f NP_001121135.2:p.Lys49= NP_001121135.2:p.Glu50fs
gelsolin isoform g NP_001340005.1:p.Lys37= NP_001340005.1:p.Glu38fs
gelsolin isoform b NP_001339985.1:p.Lys13= NP_001339985.1:p.Glu14fs
gelsolin isoform b NP_001121136.1:p.Lys13= NP_001121136.1:p.Glu14fs
gelsolin isoform b NP_001121137.1:p.Lys13= NP_001121137.1:p.Glu14fs
gelsolin isoform c NP_001121138.1:p.Lys24= NP_001121138.1:p.Glu25fs
gelsolin isoform e NP_001244959.1:p.Lys21= NP_001244959.1:p.Glu22fs
gelsolin isoform c NP_001121139.1:p.Lys24= NP_001121139.1:p.Glu25fs
gelsolin isoform c NP_001339999.1:p.Lys24= NP_001339999.1:p.Glu25fs
gelsolin isoform b NP_001339989.1:p.Lys13= NP_001339989.1:p.Glu14fs
gelsolin isoform b NP_001339984.1:p.Lys13= NP_001339984.1:p.Glu14fs
gelsolin isoform b NP_001339986.1:p.Lys13= NP_001339986.1:p.Glu14fs
gelsolin isoform c NP_001339996.1:p.Lys24= NP_001339996.1:p.Glu25fs
gelsolin isoform c NP_001339992.1:p.Lys24= NP_001339992.1:p.Glu25fs
gelsolin isoform d NP_001244958.1:p.Lys30= NP_001244958.1:p.Glu31fs
gelsolin isoform b NP_001121134.1:p.Lys13= NP_001121134.1:p.Glu14fs
gelsolin isoform b NP_001339982.1:p.Lys13= NP_001339982.1:p.Glu14fs
gelsolin isoform b NP_001339983.1:p.Lys13= NP_001339983.1:p.Glu14fs
gelsolin isoform b NP_001339991.1:p.Lys13= NP_001339991.1:p.Glu14fs
gelsolin isoform c NP_001340004.1:p.Lys24= NP_001340004.1:p.Glu25fs
gelsolin isoform c NP_001340006.1:p.Lys24= NP_001340006.1:p.Glu25fs
gelsolin isoform X3 XP_016870134.1:p.Lys34= XP_016870134.1:p.Glu35fs
gelsolin isoform X2 XP_011516887.1:p.Lys43= XP_011516887.1:p.Glu44fs
gelsolin isoform X4 XP_005252001.1:p.Lys24= XP_005252001.1:p.Glu25fs
gelsolin isoform X4 XP_047279225.1:p.Lys24= XP_047279225.1:p.Glu25fs
gelsolin isoform X5 XP_047279229.1:p.Lys13= XP_047279229.1:p.Glu14fs
gelsolin isoform X4 XP_047279223.1:p.Lys24= XP_047279223.1:p.Glu25fs
gelsolin isoform X4 XP_047279224.1:p.Lys24= XP_047279224.1:p.Glu25fs
gelsolin isoform X5 XP_047279228.1:p.Lys13= XP_047279228.1:p.Glu14fs
gelsolin isoform X1 XP_047279221.1:p.Lys62= XP_047279221.1:p.Glu63fs
gelsolin isoform X4 XP_047279226.1:p.Lys24= XP_047279226.1:p.Glu25fs
gelsolin isoform X3 XP_047279222.1:p.Lys34= XP_047279222.1:p.Glu35fs
gelsolin isoform X4 XP_047279227.1:p.Lys24= XP_047279227.1:p.Glu25fs
GSN transcript variant 36 NM_001353078.2:c.-458-903= NM_001353078.2:c.-458-902dup
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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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2748258937 Nov 08, 2017 (151)
2 GNOMAD ss2883023108 Nov 08, 2017 (151)
3 gnomAD - Genomes NC_000009.12 - 121302008 Apr 26, 2021 (155)
4 ALFA NC_000009.12 - 121302008 Apr 26, 2021 (155)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2748258937, ss2883023108 NC_000009.11:124064285::A NC_000009.12:121302007:AA:AAA (self)
337176359 NC_000009.12:121302007::A NC_000009.12:121302007:AA:AAA (self)
6962488454 NC_000009.12:121302007:AA:AAA NC_000009.12:121302007:AA:AAA (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1490099144

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.

Software version is: 2.0.1.post820+afb47a3d