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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.

rs375016959

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:14857681 (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
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/264690, TOPMED)
G=0.000004 (1/249124, GnomAD_exome)
G=0.000008 (1/120272, ExAC) (+ 2 more)
G=0.00007 (1/14050, ALFA)
G=0.00008 (1/12004, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FREM1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 T=0.99993 G=0.00007
European Sub 9690 T=1.0000 G=0.0000
African Sub 2898 T=0.9997 G=0.0003
African Others Sub 114 T=1.000 G=0.000
African American Sub 2784 T=0.9996 G=0.0004
Asian Sub 112 T=1.000 G=0.000
East Asian Sub 86 T=1.00 G=0.00
Other Asian Sub 26 T=1.00 G=0.00
Latin American 1 Sub 146 T=1.000 G=0.000
Latin American 2 Sub 610 T=1.000 G=0.000
South Asian Sub 98 T=1.00 G=0.00
Other Sub 496 T=1.000 G=0.000


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.999996 G=0.000004
gnomAD - Exomes Global Study-wide 249124 T=0.999996 G=0.000004
gnomAD - Exomes European Sub 134462 T=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 48566 T=1.00000 G=0.00000
gnomAD - Exomes American Sub 34508 T=1.00000 G=0.00000
gnomAD - Exomes African Sub 15486 T=0.99994 G=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10058 T=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6044 T=1.0000 G=0.0000
ExAC Global Study-wide 120272 T=0.999992 G=0.000008
ExAC Europe Sub 73190 T=1.00000 G=0.00000
ExAC Asian Sub 24816 T=1.00000 G=0.00000
ExAC American Sub 11572 T=1.00000 G=0.00000
ExAC African Sub 9800 T=0.9999 G=0.0001
ExAC Other Sub 894 T=1.000 G=0.000
Allele Frequency Aggregator Total Global 14050 T=0.99993 G=0.00007
Allele Frequency Aggregator European Sub 9690 T=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2898 T=0.9997 G=0.0003
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 G=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 G=0.00
GO Exome Sequencing Project Global Study-wide 12004 T=0.99992 G=0.00008
GO Exome Sequencing Project European American Sub 8240 T=1.0000 G=0.0000
GO Exome Sequencing Project African American Sub 3764 T=0.9997 G=0.0003
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.14857681T>G
GRCh37.p13 chr 9 NC_000009.11:g.14857679T>G
FREM1 RefSeqGene NG_017005.2:g.57556A>C
Gene: FREM1, FRAS1 related extracellular matrix 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FREM1 transcript variant 2 NM_001177704.3:c. N/A Genic Upstream Transcript Variant
FREM1 transcript variant 3 NM_001370058.2:c. N/A Genic Upstream Transcript Variant
FREM1 transcript variant 5 NM_001370061.2:c. N/A Genic Upstream Transcript Variant
FREM1 transcript variant 4 NM_001370060.1:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform 4 precursor NP_001356989.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant 6 NM_001370063.1:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform 5 precursor NP_001356992.1:p.Lys234Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant 7 NM_001370065.1:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform 5 precursor NP_001356994.1:p.Lys234Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant 13 NM_001379081.2:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform 1 precursor NP_001366010.1:p.Lys234Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant 1 NM_144966.7:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform 1 precursor NP_659403.4:p.Lys234Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant 11 NR_163241.1:n.1511A>C N/A Non Coding Transcript Variant
FREM1 transcript variant 10 NR_163240.1:n.1511A>C N/A Non Coding Transcript Variant
FREM1 transcript variant 8 NR_163238.2:n.1516A>C N/A Non Coding Transcript Variant
FREM1 transcript variant 9 NR_163239.2:n.1274A>C N/A Non Coding Transcript Variant
FREM1 transcript variant 12 NR_163242.2:n. N/A Genic Upstream Transcript Variant
FREM1 transcript variant X28 XM_006716729.4:c. N/A Genic Upstream Transcript Variant
FREM1 transcript variant X27 XM_011517758.3:c. N/A Genic Upstream Transcript Variant
FREM1 transcript variant X13 XM_017014327.3:c. N/A Genic Upstream Transcript Variant
FREM1 transcript variant X29 XM_047422859.1:c. N/A Genic Upstream Transcript Variant
FREM1 transcript variant X1 XM_017014316.3:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X1 XP_016869805.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X2 XM_047422844.1:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X1 XP_047278800.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X30 XM_047422845.1:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X1 XP_047278801.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X3 XM_017014319.3:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X1 XP_016869808.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X4 XM_017014320.3:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X1 XP_016869809.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X5 XM_017014321.3:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X1 XP_016869810.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X6 XM_017014322.2:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X1 XP_016869811.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X7 XM_047422846.1:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X2 XP_047278802.1:p.Lys234Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X8 XM_047422847.1:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X2 XP_047278803.1:p.Lys234Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X9 XM_047422848.1:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X2 XP_047278804.1:p.Lys234Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X10 XM_017014324.3:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X3 XP_016869813.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X11 XM_017014325.3:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X4 XP_016869814.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X12 XM_017014326.2:c.319A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X5 XP_016869815.1:p.Lys107Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X14 XM_017014328.3:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X7 XP_016869817.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X15 XM_017014329.3:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X8 XP_016869818.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X16 XM_047422849.1:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X9 XP_047278805.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X17 XM_047422850.1:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X10 XP_047278806.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X18 XM_047422851.1:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X11 XP_047278807.1:p.Lys234Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X19 XM_047422852.1:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X12 XP_047278808.1:p.Lys234Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X20 XM_047422853.1:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X13 XP_047278809.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X21 XM_047422854.1:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X14 XP_047278810.1:p.Lys234Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X22 XM_047422855.1:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X15 XP_047278811.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X23 XM_017014330.3:c.727A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X16 XP_016869819.1:p.Lys243Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X24 XM_047422856.1:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X17 XP_047278812.1:p.Lys234Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X25 XM_047422857.1:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X17 XP_047278813.1:p.Lys234Gln K (Lys) > Q (Gln) Missense Variant
FREM1 transcript variant X26 XM_047422858.1:c.700A>C K [AAA] > Q [CAA] Coding Sequence Variant
FRAS1-related extracellular matrix protein 1 isoform X17 XP_047278814.1:p.Lys234Gln K (Lys) > Q (Gln) Missense 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 T= G
GRCh38.p14 chr 9 NC_000009.12:g.14857681= NC_000009.12:g.14857681T>G
GRCh37.p13 chr 9 NC_000009.11:g.14857679= NC_000009.11:g.14857679T>G
FREM1 RefSeqGene NG_017005.2:g.57556= NG_017005.2:g.57556A>C
FREM1 transcript variant 1 NM_144966.7:c.700= NM_144966.7:c.700A>C
FREM1 transcript variant 1 NM_144966.6:c.700= NM_144966.6:c.700A>C
FREM1 transcript variant 1 NM_144966.5:c.700= NM_144966.5:c.700A>C
FREM1 transcript variant 9 NR_163239.2:n.1274= NR_163239.2:n.1274A>C
FREM1 transcript variant 9 NR_163239.1:n.1274= NR_163239.1:n.1274A>C
FREM1 transcript variant 13 NM_001379081.2:c.700= NM_001379081.2:c.700A>C
FREM1 transcript variant 13 NM_001379081.1:c.700= NM_001379081.1:c.700A>C
FREM1 transcript variant 8 NR_163238.2:n.1516= NR_163238.2:n.1516A>C
FREM1 transcript variant 8 NR_163238.1:n.1516= NR_163238.1:n.1516A>C
FREM1 transcript variant 11 NR_163241.1:n.1511= NR_163241.1:n.1511A>C
FREM1 transcript variant 4 NM_001370060.1:c.727= NM_001370060.1:c.727A>C
FREM1 transcript variant 10 NR_163240.1:n.1511= NR_163240.1:n.1511A>C
FREM1 transcript variant 6 NM_001370063.1:c.700= NM_001370063.1:c.700A>C
FREM1 transcript variant 7 NM_001370065.1:c.700= NM_001370065.1:c.700A>C
FREM1 transcript variant X15 XM_017014329.3:c.727= XM_017014329.3:c.727A>C
FREM1 transcript variant X14 XM_017014329.2:c.727= XM_017014329.2:c.727A>C
FREM1 transcript variant X15 XM_017014329.1:c.727= XM_017014329.1:c.727A>C
FREM1 transcript variant X3 XM_017014319.3:c.727= XM_017014319.3:c.727A>C
FREM1 transcript variant X3 XM_017014319.2:c.727= XM_017014319.2:c.727A>C
FREM1 transcript variant X4 XM_017014319.1:c.727= XM_017014319.1:c.727A>C
FREM1 transcript variant X4 XM_017014320.3:c.727= XM_017014320.3:c.727A>C
FREM1 transcript variant X4 XM_017014320.2:c.727= XM_017014320.2:c.727A>C
FREM1 transcript variant X5 XM_017014320.1:c.727= XM_017014320.1:c.727A>C
FREM1 transcript variant X1 XM_017014316.3:c.727= XM_017014316.3:c.727A>C
FREM1 transcript variant X1 XM_017014316.2:c.727= XM_017014316.2:c.727A>C
FREM1 transcript variant X1 XM_017014316.1:c.727= XM_017014316.1:c.727A>C
FREM1 transcript variant X11 XM_017014325.3:c.727= XM_017014325.3:c.727A>C
FREM1 transcript variant X10 XM_017014325.2:c.727= XM_017014325.2:c.727A>C
FREM1 transcript variant X11 XM_017014325.1:c.727= XM_017014325.1:c.727A>C
FREM1 transcript variant X10 XM_017014324.3:c.727= XM_017014324.3:c.727A>C
FREM1 transcript variant X9 XM_017014324.2:c.727= XM_017014324.2:c.727A>C
FREM1 transcript variant X10 XM_017014324.1:c.727= XM_017014324.1:c.727A>C
FREM1 transcript variant X5 XM_017014321.3:c.727= XM_017014321.3:c.727A>C
FREM1 transcript variant X5 XM_017014321.2:c.727= XM_017014321.2:c.727A>C
FREM1 transcript variant X6 XM_017014321.1:c.727= XM_017014321.1:c.727A>C
FREM1 transcript variant X14 XM_017014328.3:c.727= XM_017014328.3:c.727A>C
FREM1 transcript variant X13 XM_017014328.2:c.727= XM_017014328.2:c.727A>C
FREM1 transcript variant X14 XM_017014328.1:c.727= XM_017014328.1:c.727A>C
FREM1 transcript variant X23 XM_017014330.3:c.727= XM_017014330.3:c.727A>C
FREM1 transcript variant X19 XM_017014330.2:c.727= XM_017014330.2:c.727A>C
FREM1 transcript variant X20 XM_017014330.1:c.727= XM_017014330.1:c.727A>C
FREM1 transcript variant X6 XM_017014322.2:c.727= XM_017014322.2:c.727A>C
FREM1 transcript variant X6 XM_017014322.1:c.727= XM_017014322.1:c.727A>C
FREM1 transcript variant X12 XM_017014326.2:c.319= XM_017014326.2:c.319A>C
FREM1 transcript variant X11 XM_017014326.1:c.319= XM_017014326.1:c.319A>C
FREM1 transcript variant X30 XM_047422845.1:c.727= XM_047422845.1:c.727A>C
FREM1 transcript variant X9 XM_047422848.1:c.700= XM_047422848.1:c.700A>C
FREM1 transcript variant X2 XM_047422844.1:c.727= XM_047422844.1:c.727A>C
FREM1 transcript variant X7 XM_047422846.1:c.700= XM_047422846.1:c.700A>C
FREM1 transcript variant X8 XM_047422847.1:c.700= XM_047422847.1:c.700A>C
FREM1 transcript variant X16 XM_047422849.1:c.727= XM_047422849.1:c.727A>C
FREM1 transcript variant X17 XM_047422850.1:c.727= XM_047422850.1:c.727A>C
FREM1 transcript variant X19 XM_047422852.1:c.700= XM_047422852.1:c.700A>C
FREM1 transcript variant X18 XM_047422851.1:c.700= XM_047422851.1:c.700A>C
FREM1 transcript variant X20 XM_047422853.1:c.727= XM_047422853.1:c.727A>C
FREM1 transcript variant X24 XM_047422856.1:c.700= XM_047422856.1:c.700A>C
FREM1 transcript variant X22 XM_047422855.1:c.727= XM_047422855.1:c.727A>C
FREM1 transcript variant X21 XM_047422854.1:c.700= XM_047422854.1:c.700A>C
FREM1 transcript variant X25 XM_047422857.1:c.700= XM_047422857.1:c.700A>C
FREM1 transcript variant X26 XM_047422858.1:c.700= XM_047422858.1:c.700A>C
FRAS1-related extracellular matrix protein 1 isoform 1 precursor NP_659403.4:p.Lys234= NP_659403.4:p.Lys234Gln
FRAS1-related extracellular matrix protein 1 isoform 1 precursor NP_001366010.1:p.Lys234= NP_001366010.1:p.Lys234Gln
FRAS1-related extracellular matrix protein 1 isoform 4 precursor NP_001356989.1:p.Lys243= NP_001356989.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform 5 precursor NP_001356992.1:p.Lys234= NP_001356992.1:p.Lys234Gln
FRAS1-related extracellular matrix protein 1 isoform 5 precursor NP_001356994.1:p.Lys234= NP_001356994.1:p.Lys234Gln
FRAS1-related extracellular matrix protein 1 isoform X8 XP_016869818.1:p.Lys243= XP_016869818.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X1 XP_016869808.1:p.Lys243= XP_016869808.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X1 XP_016869809.1:p.Lys243= XP_016869809.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X1 XP_016869805.1:p.Lys243= XP_016869805.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X4 XP_016869814.1:p.Lys243= XP_016869814.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X3 XP_016869813.1:p.Lys243= XP_016869813.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X1 XP_016869810.1:p.Lys243= XP_016869810.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X7 XP_016869817.1:p.Lys243= XP_016869817.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X16 XP_016869819.1:p.Lys243= XP_016869819.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X1 XP_016869811.1:p.Lys243= XP_016869811.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X5 XP_016869815.1:p.Lys107= XP_016869815.1:p.Lys107Gln
FRAS1-related extracellular matrix protein 1 isoform X1 XP_047278801.1:p.Lys243= XP_047278801.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X2 XP_047278804.1:p.Lys234= XP_047278804.1:p.Lys234Gln
FRAS1-related extracellular matrix protein 1 isoform X1 XP_047278800.1:p.Lys243= XP_047278800.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X2 XP_047278802.1:p.Lys234= XP_047278802.1:p.Lys234Gln
FRAS1-related extracellular matrix protein 1 isoform X2 XP_047278803.1:p.Lys234= XP_047278803.1:p.Lys234Gln
FRAS1-related extracellular matrix protein 1 isoform X9 XP_047278805.1:p.Lys243= XP_047278805.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X10 XP_047278806.1:p.Lys243= XP_047278806.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X12 XP_047278808.1:p.Lys234= XP_047278808.1:p.Lys234Gln
FRAS1-related extracellular matrix protein 1 isoform X11 XP_047278807.1:p.Lys234= XP_047278807.1:p.Lys234Gln
FRAS1-related extracellular matrix protein 1 isoform X13 XP_047278809.1:p.Lys243= XP_047278809.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X17 XP_047278812.1:p.Lys234= XP_047278812.1:p.Lys234Gln
FRAS1-related extracellular matrix protein 1 isoform X15 XP_047278811.1:p.Lys243= XP_047278811.1:p.Lys243Gln
FRAS1-related extracellular matrix protein 1 isoform X14 XP_047278810.1:p.Lys234= XP_047278810.1:p.Lys234Gln
FRAS1-related extracellular matrix protein 1 isoform X17 XP_047278813.1:p.Lys234= XP_047278813.1:p.Lys234Gln
FRAS1-related extracellular matrix protein 1 isoform X17 XP_047278814.1:p.Lys234= XP_047278814.1:p.Lys234Gln
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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#.

5 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss712876484 Apr 25, 2013 (138)
2 EVA_EXAC ss1689425139 Apr 01, 2015 (144)
3 GNOMAD ss2737512504 Nov 08, 2017 (151)
4 EVA ss3824417271 Apr 26, 2020 (154)
5 TOPMED ss4813838818 Apr 26, 2021 (155)
6 ExAC NC_000009.11 - 14857679 Oct 12, 2018 (152)
7 gnomAD - Exomes NC_000009.11 - 14857679 Jul 13, 2019 (153)
8 GO Exome Sequencing Project NC_000009.11 - 14857679 Oct 12, 2018 (152)
9 TopMed NC_000009.12 - 14857681 Apr 26, 2021 (155)
10 ALFA NC_000009.12 - 14857681 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
9543078, 6691742, 875077, ss712876484, ss1689425139, ss2737512504, ss3824417271 NC_000009.11:14857678:T:G NC_000009.12:14857680:T:G (self)
651216379, 517909440, ss4813838818 NC_000009.12:14857680:T:G NC_000009.12:14857680:T:G (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 rs375016959

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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.post761+d5e8e07