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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

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

Reference SNP (rs) Report

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

rs753428225

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:49902775-49902781 (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
delTG
Variation Type
Indel Insertion and Deletion
Frequency
delTG=0.000015 (4/264690, TOPMED)
delTG=0.000040 (10/251248, GnomAD_exome)
delTG=0.000036 (5/140324, GnomAD) (+ 2 more)
delTG=0.000017 (2/121014, ExAC)
delTG=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MST1R : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 GTGTGTG=1.00000 GTGTG=0.00000
European Sub 9690 GTGTGTG=1.0000 GTGTG=0.0000
African Sub 2898 GTGTGTG=1.0000 GTGTG=0.0000
African Others Sub 114 GTGTGTG=1.000 GTGTG=0.000
African American Sub 2784 GTGTGTG=1.0000 GTGTG=0.0000
Asian Sub 112 GTGTGTG=1.000 GTGTG=0.000
East Asian Sub 86 GTGTGTG=1.00 GTGTG=0.00
Other Asian Sub 26 GTGTGTG=1.00 GTGTG=0.00
Latin American 1 Sub 146 GTGTGTG=1.000 GTGTG=0.000
Latin American 2 Sub 610 GTGTGTG=1.000 GTGTG=0.000
South Asian Sub 98 GTGTGTG=1.00 GTGTG=0.00
Other Sub 496 GTGTGTG=1.000 GTGTG=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 (GT)3G=0.999985 delTG=0.000015
gnomAD - Exomes Global Study-wide 251248 (GT)3G=0.999960 delTG=0.000040
gnomAD - Exomes European Sub 135232 (GT)3G=1.000000 delTG=0.000000
gnomAD - Exomes Asian Sub 49000 (GT)3G=0.99980 delTG=0.00020
gnomAD - Exomes American Sub 34592 (GT)3G=1.00000 delTG=0.00000
gnomAD - Exomes African Sub 16234 (GT)3G=1.00000 delTG=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10068 (GT)3G=1.00000 delTG=0.00000
gnomAD - Exomes Other Sub 6122 (GT)3G=1.0000 delTG=0.0000
gnomAD - Genomes Global Study-wide 140324 (GT)3G=0.999964 delTG=0.000036
gnomAD - Genomes European Sub 75966 (GT)3G=1.00000 delTG=0.00000
gnomAD - Genomes African Sub 42078 (GT)3G=1.00000 delTG=0.00000
gnomAD - Genomes American Sub 13670 (GT)3G=1.00000 delTG=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 (GT)3G=1.0000 delTG=0.0000
gnomAD - Genomes East Asian Sub 3134 (GT)3G=0.9984 delTG=0.0016
gnomAD - Genomes Other Sub 2152 (GT)3G=1.0000 delTG=0.0000
ExAC Global Study-wide 121014 (GT)3G=0.999983 delTG=0.000017
ExAC Europe Sub 73054 (GT)3G=1.00000 delTG=0.00000
ExAC Asian Sub 25128 (GT)3G=0.99992 delTG=0.00008
ExAC American Sub 11566 (GT)3G=1.00000 delTG=0.00000
ExAC African Sub 10360 (GT)3G=1.00000 delTG=0.00000
ExAC Other Sub 906 (GT)3G=1.000 delTG=0.000
Allele Frequency Aggregator Total Global 14050 (GT)3G=1.00000 delTG=0.00000
Allele Frequency Aggregator European Sub 9690 (GT)3G=1.0000 delTG=0.0000
Allele Frequency Aggregator African Sub 2898 (GT)3G=1.0000 delTG=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 (GT)3G=1.000 delTG=0.000
Allele Frequency Aggregator Other Sub 496 (GT)3G=1.000 delTG=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (GT)3G=1.000 delTG=0.000
Allele Frequency Aggregator Asian Sub 112 (GT)3G=1.000 delTG=0.000
Allele Frequency Aggregator South Asian Sub 98 (GT)3G=1.00 delTG=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 3 NC_000003.12:g.49902776TG[2]
GRCh37.p13 chr 3 NC_000003.11:g.49940209TG[2]
MST1R RefSeqGene NG_030322.1:g.6094AC[2]
Gene: MST1R, macrophage stimulating 1 receptor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MST1R transcript variant 1 NM_002447.4:c.834_835del T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform 1 preproprotein NP_002438.2:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant 2 NM_001244937.3:c.834_835d…

NM_001244937.3:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform 2 precursor NP_001231866.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant 3 NM_001318913.2:c.834_835d…

NM_001318913.2:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform 3 precursor NP_001305842.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant 4 NR_134919.2:n.1094AC[2] N/A Non Coding Transcript Variant
MST1R transcript variant X1 XM_005265170.5:c.834_835d…

XM_005265170.5:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X1 XP_005265227.2:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X2 XM_011533739.3:c.834_835d…

XM_011533739.3:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X2 XP_011532041.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X3 XM_047448162.1:c.834_835d…

XM_047448162.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X3 XP_047304118.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X4 XM_011533740.3:c.834_835d…

XM_011533740.3:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X4 XP_011532042.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X5 XM_011533741.3:c.834_835d…

XM_011533741.3:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X5 XP_011532043.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X6 XM_047448163.1:c.834_835d…

XM_047448163.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X6 XP_047304119.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X8 XM_011533742.3:c.834_835d…

XM_011533742.3:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X7 XP_011532044.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X9 XM_047448164.1:c.834_835d…

XM_047448164.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X8 XP_047304120.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X10 XM_011533743.3:c.834_835d…

XM_011533743.3:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X9 XP_011532045.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X11 XM_047448165.1:c.834_835d…

XM_047448165.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X10 XP_047304121.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X12 XM_011533744.3:c.834_835d…

XM_011533744.3:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X11 XP_011532046.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X13 XM_047448166.1:c.834_835d…

XM_047448166.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X12 XP_047304122.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X14 XM_047448167.1:c.834_835d…

XM_047448167.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X13 XP_047304123.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X15 XM_047448168.1:c.834_835d…

XM_047448168.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X14 XP_047304124.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X16 XM_047448169.1:c.834_835d…

XM_047448169.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X15 XP_047304125.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X17 XM_047448170.1:c.834_835d…

XM_047448170.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X16 XP_047304126.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X18 XM_047448171.1:c.834_835d…

XM_047448171.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X17 XP_047304127.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X19 XM_047448172.1:c.834_835d…

XM_047448172.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X18 XP_047304128.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X20 XM_047448173.1:c.834_835d…

XM_047448173.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X19 XP_047304129.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X21 XM_047448174.1:c.834_835d…

XM_047448174.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X20 XP_047304130.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X22 XM_047448175.1:c.834_835d…

XM_047448175.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X21 XP_047304131.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X23 XM_047448176.1:c.834_835d…

XM_047448176.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X22 XP_047304132.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X24 XM_047448177.1:c.834_835d…

XM_047448177.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X23 XP_047304133.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X25 XM_047448178.1:c.834_835d…

XM_047448178.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X24 XP_047304134.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X26 XM_047448179.1:c.834_835d…

XM_047448179.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X25 XP_047304135.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X27 XM_047448180.1:c.834_835d…

XM_047448180.1:c.834_835del

T [ACACG] > T [ACGC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X26 XP_047304136.1:p.Arg279fs T (Thr) > T (Thr) Frameshift Variant
MST1R transcript variant X7 XR_001740155.2:n.1094AC[2] 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 (GT)3G= delTG
GRCh38.p14 chr 3 NC_000003.12:g.49902775_49902781= NC_000003.12:g.49902776TG[2]
GRCh37.p13 chr 3 NC_000003.11:g.49940208_49940214= NC_000003.11:g.49940209TG[2]
MST1R RefSeqGene NG_030322.1:g.6093_6099= NG_030322.1:g.6094AC[2]
MST1R transcript variant 1 NM_002447.4:c.829_835= NM_002447.4:c.834_835del
MST1R transcript variant 1 NM_002447.3:c.829_835= NM_002447.3:c.834_835del
MST1R transcript variant 1 NM_002447.2:c.829_835= NM_002447.2:c.834_835del
MST1R transcript variant 2 NM_001244937.3:c.829_835= NM_001244937.3:c.834_835del
MST1R transcript variant 2 NM_001244937.2:c.829_835= NM_001244937.2:c.834_835del
MST1R transcript variant 2 NM_001244937.1:c.829_835= NM_001244937.1:c.834_835del
MST1R transcript variant 4 NR_134919.2:n.1093_1099= NR_134919.2:n.1094AC[2]
MST1R transcript variant 4 NR_134919.1:n.857_863= NR_134919.1:n.858AC[2]
MST1R transcript variant 3 NM_001318913.2:c.829_835= NM_001318913.2:c.834_835del
MST1R transcript variant 3 NM_001318913.1:c.829_835= NM_001318913.1:c.834_835del
MST1R transcript variant X1 XM_005265170.5:c.829_835= XM_005265170.5:c.834_835del
MST1R transcript variant X1 XM_005265170.4:c.829_835= XM_005265170.4:c.834_835del
MST1R transcript variant X1 XM_005265170.3:c.829_835= XM_005265170.3:c.834_835del
MST1R transcript variant X1 XM_005265170.2:c.829_835= XM_005265170.2:c.834_835del
MST1R transcript variant X1 XM_005265170.1:c.829_835= XM_005265170.1:c.834_835del
MST1R transcript variant X2 XM_011533739.3:c.829_835= XM_011533739.3:c.834_835del
MST1R transcript variant X2 XM_011533739.2:c.829_835= XM_011533739.2:c.834_835del
MST1R transcript variant X2 XM_011533739.1:c.829_835= XM_011533739.1:c.834_835del
MST1R transcript variant X8 XM_011533742.3:c.829_835= XM_011533742.3:c.834_835del
MST1R transcript variant X6 XM_011533742.2:c.829_835= XM_011533742.2:c.834_835del
MST1R transcript variant X5 XM_011533742.1:c.829_835= XM_011533742.1:c.834_835del
MST1R transcript variant X4 XM_011533740.3:c.829_835= XM_011533740.3:c.834_835del
MST1R transcript variant X3 XM_011533740.2:c.829_835= XM_011533740.2:c.834_835del
MST1R transcript variant X3 XM_011533740.1:c.829_835= XM_011533740.1:c.834_835del
MST1R transcript variant X5 XM_011533741.3:c.829_835= XM_011533741.3:c.834_835del
MST1R transcript variant X4 XM_011533741.2:c.829_835= XM_011533741.2:c.834_835del
MST1R transcript variant X4 XM_011533741.1:c.829_835= XM_011533741.1:c.834_835del
MST1R transcript variant X10 XM_011533743.3:c.829_835= XM_011533743.3:c.834_835del
MST1R transcript variant X7 XM_011533743.2:c.829_835= XM_011533743.2:c.834_835del
MST1R transcript variant X6 XM_011533743.1:c.829_835= XM_011533743.1:c.834_835del
MST1R transcript variant X12 XM_011533744.3:c.829_835= XM_011533744.3:c.834_835del
MST1R transcript variant X8 XM_011533744.2:c.829_835= XM_011533744.2:c.834_835del
MST1R transcript variant X7 XM_011533744.1:c.829_835= XM_011533744.1:c.834_835del
MST1R transcript variant X7 XR_001740155.2:n.1093_1099= XR_001740155.2:n.1094AC[2]
MST1R transcript variant X5 XR_001740155.1:n.852_858= XR_001740155.1:n.853AC[2]
MST1R transcript variant X3 XM_047448162.1:c.829_835= XM_047448162.1:c.834_835del
MST1R transcript variant X9 XM_047448164.1:c.829_835= XM_047448164.1:c.834_835del
MST1R transcript variant X6 XM_047448163.1:c.829_835= XM_047448163.1:c.834_835del
MST1R transcript variant X13 XM_047448166.1:c.829_835= XM_047448166.1:c.834_835del
MST1R transcript variant X16 XM_047448169.1:c.829_835= XM_047448169.1:c.834_835del
MST1R transcript variant X17 XM_047448170.1:c.829_835= XM_047448170.1:c.834_835del
MST1R transcript variant X11 XM_047448165.1:c.829_835= XM_047448165.1:c.834_835del
MST1R transcript variant X18 XM_047448171.1:c.829_835= XM_047448171.1:c.834_835del
MST1R transcript variant X14 XM_047448167.1:c.829_835= XM_047448167.1:c.834_835del
MST1R transcript variant X15 XM_047448168.1:c.829_835= XM_047448168.1:c.834_835del
MST1R transcript variant X19 XM_047448172.1:c.829_835= XM_047448172.1:c.834_835del
MST1R transcript variant X22 XM_047448175.1:c.829_835= XM_047448175.1:c.834_835del
MST1R transcript variant X20 XM_047448173.1:c.829_835= XM_047448173.1:c.834_835del
MST1R transcript variant X21 XM_047448174.1:c.829_835= XM_047448174.1:c.834_835del
MST1R transcript variant X24 XM_047448177.1:c.829_835= XM_047448177.1:c.834_835del
MST1R transcript variant X23 XM_047448176.1:c.829_835= XM_047448176.1:c.834_835del
MST1R transcript variant X25 XM_047448178.1:c.829_835= XM_047448178.1:c.834_835del
MST1R transcript variant X27 XM_047448180.1:c.829_835= XM_047448180.1:c.834_835del
MST1R transcript variant X26 XM_047448179.1:c.829_835= XM_047448179.1:c.834_835del
macrophage-stimulating protein receptor isoform 1 preproprotein NP_002438.2:p.His277_Arg279= NP_002438.2:p.Arg279fs
macrophage-stimulating protein receptor isoform 2 precursor NP_001231866.1:p.His277_Arg279= NP_001231866.1:p.Arg279fs
macrophage-stimulating protein receptor isoform 3 precursor NP_001305842.1:p.His277_Arg279= NP_001305842.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X1 XP_005265227.2:p.His277_Arg279= XP_005265227.2:p.Arg279fs
macrophage-stimulating protein receptor isoform X2 XP_011532041.1:p.His277_Arg279= XP_011532041.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X7 XP_011532044.1:p.His277_Arg279= XP_011532044.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X4 XP_011532042.1:p.His277_Arg279= XP_011532042.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X5 XP_011532043.1:p.His277_Arg279= XP_011532043.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X9 XP_011532045.1:p.His277_Arg279= XP_011532045.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X11 XP_011532046.1:p.His277_Arg279= XP_011532046.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X3 XP_047304118.1:p.His277_Arg279= XP_047304118.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X8 XP_047304120.1:p.His277_Arg279= XP_047304120.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X6 XP_047304119.1:p.His277_Arg279= XP_047304119.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X12 XP_047304122.1:p.His277_Arg279= XP_047304122.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X15 XP_047304125.1:p.His277_Arg279= XP_047304125.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X16 XP_047304126.1:p.His277_Arg279= XP_047304126.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X10 XP_047304121.1:p.His277_Arg279= XP_047304121.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X17 XP_047304127.1:p.His277_Arg279= XP_047304127.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X13 XP_047304123.1:p.His277_Arg279= XP_047304123.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X14 XP_047304124.1:p.His277_Arg279= XP_047304124.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X18 XP_047304128.1:p.His277_Arg279= XP_047304128.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X21 XP_047304131.1:p.His277_Arg279= XP_047304131.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X19 XP_047304129.1:p.His277_Arg279= XP_047304129.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X20 XP_047304130.1:p.His277_Arg279= XP_047304130.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X23 XP_047304133.1:p.His277_Arg279= XP_047304133.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X22 XP_047304132.1:p.His277_Arg279= XP_047304132.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X24 XP_047304134.1:p.His277_Arg279= XP_047304134.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X26 XP_047304136.1:p.His277_Arg279= XP_047304136.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X25 XP_047304135.1:p.His277_Arg279= XP_047304135.1:p.Arg279fs
macrophage-stimulating protein receptor isoform X1 XP_005265227.1:p.His277_Arg279= XP_005265227.1:p.Arg279fs
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#.

5 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1711724204 Apr 01, 2015 (144)
2 GNOMAD ss2747013122 Nov 08, 2017 (151)
3 GNOMAD ss2792689251 Nov 08, 2017 (151)
4 TOPMED ss4563846326 Apr 27, 2021 (155)
5 YY_MCH ss5803719061 Oct 12, 2022 (156)
6 ExAC NC_000003.11 - 49940208 Oct 12, 2018 (152)
7 gnomAD - Genomes NC_000003.12 - 49902775 Apr 27, 2021 (155)
8 gnomAD - Exomes NC_000003.11 - 49940208 Jul 13, 2019 (153)
9 TopMed NC_000003.12 - 49902775 Apr 27, 2021 (155)
10 ALFA NC_000003.12 - 49902775 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
6943250, 2850455, ss1711724204, ss2747013122, ss2792689251 NC_000003.11:49940207:GT: NC_000003.12:49902774:GTGTGTG:GTGTG (self)
107109698, 401223881, ss4563846326, ss5803719061 NC_000003.12:49902774:GT: NC_000003.12:49902774:GTGTGTG:GTGTG (self)
11720508692 NC_000003.12:49902774:GTGTGTG:GTGTG NC_000003.12:49902774:GTGTGTG:GTGTG (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 rs753428225

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.post761+d5e8e07