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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.

rs772999107

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:49890561 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000012 (3/251244, GnomAD_exome)
T=0.000021 (3/140210, GnomAD)
T=0.000008 (1/120966, ExAC) (+ 3 more)
T=0.00003 (1/32058, ALFA)
T=0.00004 (1/28258, 14KJPN)
T=0.00006 (1/16760, 8.3KJPN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MST1R : 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 32058 C=0.99997 A=0.00000, T=0.00003
European Sub 23858 C=1.00000 A=0.00000, T=0.00000
African Sub 2314 C=1.0000 A=0.0000, T=0.0000
African Others Sub 84 C=1.00 A=0.00, T=0.00
African American Sub 2230 C=1.0000 A=0.0000, T=0.0000
Asian Sub 108 C=1.000 A=0.000, T=0.000
East Asian Sub 84 C=1.00 A=0.00, T=0.00
Other Asian Sub 24 C=1.00 A=0.00, T=0.00
Latin American 1 Sub 500 C=1.000 A=0.000, T=0.000
Latin American 2 Sub 628 C=1.000 A=0.000, T=0.000
South Asian Sub 92 C=1.00 A=0.00, T=0.00
Other Sub 4558 C=0.9998 A=0.0000, T=0.0002


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 - Exomes Global Study-wide 251244 C=0.999988 T=0.000012
gnomAD - Exomes European Sub 135224 C=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 49010 C=0.99998 T=0.00002
gnomAD - Exomes American Sub 34564 C=0.99997 T=0.00003
gnomAD - Exomes African Sub 16242 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10074 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6130 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140210 C=0.999979 T=0.000021
gnomAD - Genomes European Sub 75920 C=0.99997 T=0.00003
gnomAD - Genomes African Sub 42034 C=0.99998 T=0.00002
gnomAD - Genomes American Sub 13650 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3130 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=1.0000 T=0.0000
ExAC Global Study-wide 120966 C=0.999992 T=0.000008
ExAC Europe Sub 73024 C=1.00000 T=0.00000
ExAC Asian Sub 25124 C=0.99996 T=0.00004
ExAC American Sub 11544 C=1.00000 T=0.00000
ExAC African Sub 10372 C=1.00000 T=0.00000
ExAC Other Sub 902 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 32058 C=0.99997 A=0.00000, T=0.00003
Allele Frequency Aggregator European Sub 23858 C=1.00000 A=0.00000, T=0.00000
Allele Frequency Aggregator Other Sub 4558 C=0.9998 A=0.0000, T=0.0002
Allele Frequency Aggregator African Sub 2314 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 92 C=1.00 A=0.00, T=0.00
14KJPN JAPANESE Study-wide 28258 C=0.99996 T=0.00004
8.3KJPN JAPANESE Study-wide 16760 C=0.99994 T=0.00006
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.49890561C>A
GRCh38.p14 chr 3 NC_000003.12:g.49890561C>T
GRCh37.p13 chr 3 NC_000003.11:g.49927994C>A
GRCh37.p13 chr 3 NC_000003.11:g.49927994C>T
MST1R RefSeqGene NG_030322.1:g.18313G>T
MST1R RefSeqGene NG_030322.1:g.18313G>A
Gene: MST1R, macrophage stimulating 1 receptor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MST1R transcript variant 1 NM_002447.4:c.3734G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform 1 preproprotein NP_002438.2:p.Arg1245Leu R (Arg) > L (Leu) Missense Variant
MST1R transcript variant 1 NM_002447.4:c.3734G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform 1 preproprotein NP_002438.2:p.Arg1245His R (Arg) > H (His) Missense Variant
MST1R transcript variant 2 NM_001244937.3:c.3587G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform 2 precursor NP_001231866.1:p.Arg1196L…

NP_001231866.1:p.Arg1196Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant 2 NM_001244937.3:c.3587G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform 2 precursor NP_001231866.1:p.Arg1196H…

NP_001231866.1:p.Arg1196His

R (Arg) > H (His) Missense Variant
MST1R transcript variant 3 NM_001318913.2:c.3416G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform 3 precursor NP_001305842.1:p.Arg1139L…

NP_001305842.1:p.Arg1139Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant 3 NM_001318913.2:c.3416G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform 3 precursor NP_001305842.1:p.Arg1139H…

NP_001305842.1:p.Arg1139His

R (Arg) > H (His) Missense Variant
MST1R transcript variant 4 NR_134919.2:n.3934G>T N/A Non Coding Transcript Variant
MST1R transcript variant 4 NR_134919.2:n.3934G>A N/A Non Coding Transcript Variant
MST1R transcript variant X10 XM_011533743.3:c.3647+636…

XM_011533743.3:c.3647+636G>T

N/A Intron Variant
MST1R transcript variant X11 XM_047448165.1:c.3644+636…

XM_047448165.1:c.3644+636G>T

N/A Intron Variant
MST1R transcript variant X19 XM_047448172.1:c.3500+636…

XM_047448172.1:c.3500+636G>T

N/A Intron Variant
MST1R transcript variant X25 XM_047448178.1:c. N/A Genic Downstream Transcript Variant
MST1R transcript variant X26 XM_047448179.1:c. N/A Genic Downstream Transcript Variant
MST1R transcript variant X27 XM_047448180.1:c. N/A Genic Downstream Transcript Variant
MST1R transcript variant X1 XM_005265170.5:c.3737G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X1 XP_005265227.2:p.Arg1246L…

XP_005265227.2:p.Arg1246Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X1 XM_005265170.5:c.3737G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X1 XP_005265227.2:p.Arg1246H…

XP_005265227.2:p.Arg1246His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X2 XM_011533739.3:c.3617G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X2 XP_011532041.1:p.Arg1206L…

XP_011532041.1:p.Arg1206Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X2 XM_011533739.3:c.3617G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X2 XP_011532041.1:p.Arg1206H…

XP_011532041.1:p.Arg1206His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X3 XM_047448162.1:c.3614G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X3 XP_047304118.1:p.Arg1205L…

XP_047304118.1:p.Arg1205Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X3 XM_047448162.1:c.3614G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X3 XP_047304118.1:p.Arg1205H…

XP_047304118.1:p.Arg1205His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X4 XM_011533740.3:c.3590G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X4 XP_011532042.1:p.Arg1197L…

XP_011532042.1:p.Arg1197Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X4 XM_011533740.3:c.3590G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X4 XP_011532042.1:p.Arg1197H…

XP_011532042.1:p.Arg1197His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X5 XM_011533741.3:c.3530G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X5 XP_011532043.1:p.Arg1177L…

XP_011532043.1:p.Arg1177Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X5 XM_011533741.3:c.3530G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X5 XP_011532043.1:p.Arg1177H…

XP_011532043.1:p.Arg1177His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X6 XM_047448163.1:c.3527G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X6 XP_047304119.1:p.Arg1176L…

XP_047304119.1:p.Arg1176Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X6 XM_047448163.1:c.3527G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X6 XP_047304119.1:p.Arg1176H…

XP_047304119.1:p.Arg1176His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X8 XM_011533742.3:c.3737G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X7 XP_011532044.1:p.Arg1246L…

XP_011532044.1:p.Arg1246Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X8 XM_011533742.3:c.3737G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X7 XP_011532044.1:p.Arg1246H…

XP_011532044.1:p.Arg1246His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X9 XM_047448164.1:c.3734G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X8 XP_047304120.1:p.Arg1245L…

XP_047304120.1:p.Arg1245Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X9 XM_047448164.1:c.3734G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X8 XP_047304120.1:p.Arg1245H…

XP_047304120.1:p.Arg1245His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X12 XM_011533744.3:c.3419G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X11 XP_011532046.1:p.Arg1140L…

XP_011532046.1:p.Arg1140Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X12 XM_011533744.3:c.3419G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X11 XP_011532046.1:p.Arg1140H…

XP_011532046.1:p.Arg1140His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X13 XM_047448166.1:c.3614G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X12 XP_047304122.1:p.Arg1205L…

XP_047304122.1:p.Arg1205Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X13 XM_047448166.1:c.3614G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X12 XP_047304122.1:p.Arg1205H…

XP_047304122.1:p.Arg1205His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X14 XM_047448167.1:c.3383G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X13 XP_047304123.1:p.Arg1128L…

XP_047304123.1:p.Arg1128Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X14 XM_047448167.1:c.3383G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X13 XP_047304123.1:p.Arg1128H…

XP_047304123.1:p.Arg1128His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X15 XM_047448168.1:c.3380G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X14 XP_047304124.1:p.Arg1127L…

XP_047304124.1:p.Arg1127Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X15 XM_047448168.1:c.3380G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X14 XP_047304124.1:p.Arg1127H…

XP_047304124.1:p.Arg1127His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X16 XM_047448169.1:c.3590G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X15 XP_047304125.1:p.Arg1197L…

XP_047304125.1:p.Arg1197Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X16 XM_047448169.1:c.3590G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X15 XP_047304125.1:p.Arg1197H…

XP_047304125.1:p.Arg1197His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X17 XM_047448170.1:c.3587G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X16 XP_047304126.1:p.Arg1196L…

XP_047304126.1:p.Arg1196Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X17 XM_047448170.1:c.3587G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X16 XP_047304126.1:p.Arg1196H…

XP_047304126.1:p.Arg1196His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X18 XM_047448171.1:c.3527G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X17 XP_047304127.1:p.Arg1176L…

XP_047304127.1:p.Arg1176Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X18 XM_047448171.1:c.3527G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X17 XP_047304127.1:p.Arg1176H…

XP_047304127.1:p.Arg1176His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X20 XM_047448173.1:c.3272G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X19 XP_047304129.1:p.Arg1091L…

XP_047304129.1:p.Arg1091Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X20 XM_047448173.1:c.3272G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X19 XP_047304129.1:p.Arg1091H…

XP_047304129.1:p.Arg1091His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X21 XM_047448174.1:c.3269G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X20 XP_047304130.1:p.Arg1090L…

XP_047304130.1:p.Arg1090Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X21 XM_047448174.1:c.3269G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X20 XP_047304130.1:p.Arg1090H…

XP_047304130.1:p.Arg1090His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X22 XM_047448175.1:c.3419G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X21 XP_047304131.1:p.Arg1140L…

XP_047304131.1:p.Arg1140Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X22 XM_047448175.1:c.3419G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X21 XP_047304131.1:p.Arg1140H…

XP_047304131.1:p.Arg1140His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X23 XM_047448176.1:c.3089G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X22 XP_047304132.1:p.Arg1030L…

XP_047304132.1:p.Arg1030Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X23 XM_047448176.1:c.3089G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X22 XP_047304132.1:p.Arg1030H…

XP_047304132.1:p.Arg1030His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X24 XM_047448177.1:c.3272G>T R [CGC] > L [CTC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X23 XP_047304133.1:p.Arg1091L…

XP_047304133.1:p.Arg1091Leu

R (Arg) > L (Leu) Missense Variant
MST1R transcript variant X24 XM_047448177.1:c.3272G>A R [CGC] > H [CAC] Coding Sequence Variant
macrophage-stimulating protein receptor isoform X23 XP_047304133.1:p.Arg1091H…

XP_047304133.1:p.Arg1091His

R (Arg) > H (His) Missense Variant
MST1R transcript variant X7 XR_001740155.2:n.4001G>T N/A Non Coding Transcript Variant
MST1R transcript variant X7 XR_001740155.2:n.4001G>A N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A T
GRCh38.p14 chr 3 NC_000003.12:g.49890561= NC_000003.12:g.49890561C>A NC_000003.12:g.49890561C>T
GRCh37.p13 chr 3 NC_000003.11:g.49927994= NC_000003.11:g.49927994C>A NC_000003.11:g.49927994C>T
MST1R RefSeqGene NG_030322.1:g.18313= NG_030322.1:g.18313G>T NG_030322.1:g.18313G>A
MST1R transcript variant 1 NM_002447.4:c.3734= NM_002447.4:c.3734G>T NM_002447.4:c.3734G>A
MST1R transcript variant 1 NM_002447.3:c.3734= NM_002447.3:c.3734G>T NM_002447.3:c.3734G>A
MST1R transcript variant 1 NM_002447.2:c.3734= NM_002447.2:c.3734G>T NM_002447.2:c.3734G>A
MST1R transcript variant 2 NM_001244937.3:c.3587= NM_001244937.3:c.3587G>T NM_001244937.3:c.3587G>A
MST1R transcript variant 2 NM_001244937.2:c.3587= NM_001244937.2:c.3587G>T NM_001244937.2:c.3587G>A
MST1R transcript variant 2 NM_001244937.1:c.3587= NM_001244937.1:c.3587G>T NM_001244937.1:c.3587G>A
MST1R transcript variant 4 NR_134919.2:n.3934= NR_134919.2:n.3934G>T NR_134919.2:n.3934G>A
MST1R transcript variant 4 NR_134919.1:n.3698= NR_134919.1:n.3698G>T NR_134919.1:n.3698G>A
MST1R transcript variant 3 NM_001318913.2:c.3416= NM_001318913.2:c.3416G>T NM_001318913.2:c.3416G>A
MST1R transcript variant 3 NM_001318913.1:c.3416= NM_001318913.1:c.3416G>T NM_001318913.1:c.3416G>A
MST1R transcript variant X1 XM_005265170.5:c.3737= XM_005265170.5:c.3737G>T XM_005265170.5:c.3737G>A
MST1R transcript variant X1 XM_005265170.4:c.3737= XM_005265170.4:c.3737G>T XM_005265170.4:c.3737G>A
MST1R transcript variant X1 XM_005265170.3:c.3737= XM_005265170.3:c.3737G>T XM_005265170.3:c.3737G>A
MST1R transcript variant X1 XM_005265170.2:c.3737= XM_005265170.2:c.3737G>T XM_005265170.2:c.3737G>A
MST1R transcript variant X1 XM_005265170.1:c.3737= XM_005265170.1:c.3737G>T XM_005265170.1:c.3737G>A
MST1R transcript variant X2 XM_011533739.3:c.3617= XM_011533739.3:c.3617G>T XM_011533739.3:c.3617G>A
MST1R transcript variant X2 XM_011533739.2:c.3617= XM_011533739.2:c.3617G>T XM_011533739.2:c.3617G>A
MST1R transcript variant X2 XM_011533739.1:c.3617= XM_011533739.1:c.3617G>T XM_011533739.1:c.3617G>A
MST1R transcript variant X8 XM_011533742.3:c.3737= XM_011533742.3:c.3737G>T XM_011533742.3:c.3737G>A
MST1R transcript variant X6 XM_011533742.2:c.3737= XM_011533742.2:c.3737G>T XM_011533742.2:c.3737G>A
MST1R transcript variant X5 XM_011533742.1:c.3737= XM_011533742.1:c.3737G>T XM_011533742.1:c.3737G>A
MST1R transcript variant X4 XM_011533740.3:c.3590= XM_011533740.3:c.3590G>T XM_011533740.3:c.3590G>A
MST1R transcript variant X3 XM_011533740.2:c.3590= XM_011533740.2:c.3590G>T XM_011533740.2:c.3590G>A
MST1R transcript variant X3 XM_011533740.1:c.3590= XM_011533740.1:c.3590G>T XM_011533740.1:c.3590G>A
MST1R transcript variant X5 XM_011533741.3:c.3530= XM_011533741.3:c.3530G>T XM_011533741.3:c.3530G>A
MST1R transcript variant X4 XM_011533741.2:c.3530= XM_011533741.2:c.3530G>T XM_011533741.2:c.3530G>A
MST1R transcript variant X4 XM_011533741.1:c.3530= XM_011533741.1:c.3530G>T XM_011533741.1:c.3530G>A
MST1R transcript variant X12 XM_011533744.3:c.3419= XM_011533744.3:c.3419G>T XM_011533744.3:c.3419G>A
MST1R transcript variant X8 XM_011533744.2:c.3419= XM_011533744.2:c.3419G>T XM_011533744.2:c.3419G>A
MST1R transcript variant X7 XM_011533744.1:c.3419= XM_011533744.1:c.3419G>T XM_011533744.1:c.3419G>A
MST1R transcript variant X7 XR_001740155.2:n.4001= XR_001740155.2:n.4001G>T XR_001740155.2:n.4001G>A
MST1R transcript variant X5 XR_001740155.1:n.3760= XR_001740155.1:n.3760G>T XR_001740155.1:n.3760G>A
MST1R transcript variant X3 XM_047448162.1:c.3614= XM_047448162.1:c.3614G>T XM_047448162.1:c.3614G>A
MST1R transcript variant X9 XM_047448164.1:c.3734= XM_047448164.1:c.3734G>T XM_047448164.1:c.3734G>A
MST1R transcript variant X6 XM_047448163.1:c.3527= XM_047448163.1:c.3527G>T XM_047448163.1:c.3527G>A
MST1R transcript variant X13 XM_047448166.1:c.3614= XM_047448166.1:c.3614G>T XM_047448166.1:c.3614G>A
MST1R transcript variant X16 XM_047448169.1:c.3590= XM_047448169.1:c.3590G>T XM_047448169.1:c.3590G>A
MST1R transcript variant X17 XM_047448170.1:c.3587= XM_047448170.1:c.3587G>T XM_047448170.1:c.3587G>A
MST1R transcript variant X18 XM_047448171.1:c.3527= XM_047448171.1:c.3527G>T XM_047448171.1:c.3527G>A
MST1R transcript variant X14 XM_047448167.1:c.3383= XM_047448167.1:c.3383G>T XM_047448167.1:c.3383G>A
MST1R transcript variant X15 XM_047448168.1:c.3380= XM_047448168.1:c.3380G>T XM_047448168.1:c.3380G>A
MST1R transcript variant X22 XM_047448175.1:c.3419= XM_047448175.1:c.3419G>T XM_047448175.1:c.3419G>A
MST1R transcript variant X20 XM_047448173.1:c.3272= XM_047448173.1:c.3272G>T XM_047448173.1:c.3272G>A
MST1R transcript variant X21 XM_047448174.1:c.3269= XM_047448174.1:c.3269G>T XM_047448174.1:c.3269G>A
MST1R transcript variant X24 XM_047448177.1:c.3272= XM_047448177.1:c.3272G>T XM_047448177.1:c.3272G>A
MST1R transcript variant X23 XM_047448176.1:c.3089= XM_047448176.1:c.3089G>T XM_047448176.1:c.3089G>A
macrophage-stimulating protein receptor isoform 1 preproprotein NP_002438.2:p.Arg1245= NP_002438.2:p.Arg1245Leu NP_002438.2:p.Arg1245His
macrophage-stimulating protein receptor isoform 2 precursor NP_001231866.1:p.Arg1196= NP_001231866.1:p.Arg1196Leu NP_001231866.1:p.Arg1196His
macrophage-stimulating protein receptor isoform 3 precursor NP_001305842.1:p.Arg1139= NP_001305842.1:p.Arg1139Leu NP_001305842.1:p.Arg1139His
macrophage-stimulating protein receptor isoform X1 XP_005265227.2:p.Arg1246= XP_005265227.2:p.Arg1246Leu XP_005265227.2:p.Arg1246His
macrophage-stimulating protein receptor isoform X2 XP_011532041.1:p.Arg1206= XP_011532041.1:p.Arg1206Leu XP_011532041.1:p.Arg1206His
macrophage-stimulating protein receptor isoform X7 XP_011532044.1:p.Arg1246= XP_011532044.1:p.Arg1246Leu XP_011532044.1:p.Arg1246His
macrophage-stimulating protein receptor isoform X4 XP_011532042.1:p.Arg1197= XP_011532042.1:p.Arg1197Leu XP_011532042.1:p.Arg1197His
macrophage-stimulating protein receptor isoform X5 XP_011532043.1:p.Arg1177= XP_011532043.1:p.Arg1177Leu XP_011532043.1:p.Arg1177His
macrophage-stimulating protein receptor isoform X11 XP_011532046.1:p.Arg1140= XP_011532046.1:p.Arg1140Leu XP_011532046.1:p.Arg1140His
macrophage-stimulating protein receptor isoform X3 XP_047304118.1:p.Arg1205= XP_047304118.1:p.Arg1205Leu XP_047304118.1:p.Arg1205His
macrophage-stimulating protein receptor isoform X8 XP_047304120.1:p.Arg1245= XP_047304120.1:p.Arg1245Leu XP_047304120.1:p.Arg1245His
macrophage-stimulating protein receptor isoform X6 XP_047304119.1:p.Arg1176= XP_047304119.1:p.Arg1176Leu XP_047304119.1:p.Arg1176His
macrophage-stimulating protein receptor isoform X12 XP_047304122.1:p.Arg1205= XP_047304122.1:p.Arg1205Leu XP_047304122.1:p.Arg1205His
macrophage-stimulating protein receptor isoform X15 XP_047304125.1:p.Arg1197= XP_047304125.1:p.Arg1197Leu XP_047304125.1:p.Arg1197His
macrophage-stimulating protein receptor isoform X16 XP_047304126.1:p.Arg1196= XP_047304126.1:p.Arg1196Leu XP_047304126.1:p.Arg1196His
macrophage-stimulating protein receptor isoform X17 XP_047304127.1:p.Arg1176= XP_047304127.1:p.Arg1176Leu XP_047304127.1:p.Arg1176His
macrophage-stimulating protein receptor isoform X13 XP_047304123.1:p.Arg1128= XP_047304123.1:p.Arg1128Leu XP_047304123.1:p.Arg1128His
macrophage-stimulating protein receptor isoform X14 XP_047304124.1:p.Arg1127= XP_047304124.1:p.Arg1127Leu XP_047304124.1:p.Arg1127His
macrophage-stimulating protein receptor isoform X21 XP_047304131.1:p.Arg1140= XP_047304131.1:p.Arg1140Leu XP_047304131.1:p.Arg1140His
macrophage-stimulating protein receptor isoform X19 XP_047304129.1:p.Arg1091= XP_047304129.1:p.Arg1091Leu XP_047304129.1:p.Arg1091His
macrophage-stimulating protein receptor isoform X20 XP_047304130.1:p.Arg1090= XP_047304130.1:p.Arg1090Leu XP_047304130.1:p.Arg1090His
macrophage-stimulating protein receptor isoform X23 XP_047304133.1:p.Arg1091= XP_047304133.1:p.Arg1091Leu XP_047304133.1:p.Arg1091His
macrophage-stimulating protein receptor isoform X22 XP_047304132.1:p.Arg1030= XP_047304132.1:p.Arg1030Leu XP_047304132.1:p.Arg1030His
MST1R transcript variant X10 XM_011533743.3:c.3647+636= XM_011533743.3:c.3647+636G>T XM_011533743.3:c.3647+636G>A
MST1R transcript variant X11 XM_047448165.1:c.3644+636= XM_047448165.1:c.3644+636G>T XM_047448165.1:c.3644+636G>A
MST1R transcript variant X19 XM_047448172.1:c.3500+636= XM_047448172.1:c.3500+636G>T XM_047448172.1:c.3500+636G>A
macrophage-stimulating protein receptor isoform X1 XP_005265227.1:p.Arg1246= XP_005265227.1:p.Arg1246Leu XP_005265227.1:p.Arg1246His
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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#.

6 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1687017356 Apr 01, 2015 (144)
2 GNOMAD ss2733769886 Nov 08, 2017 (151)
3 GNOMAD ss4070667163 Apr 27, 2021 (155)
4 TOMMO_GENOMICS ss5159050861 Apr 27, 2021 (155)
5 TOMMO_GENOMICS ss5690680709 Oct 12, 2022 (156)
6 EVA ss5935657271 Oct 12, 2022 (156)
7 ExAC NC_000003.11 - 49927994 Oct 12, 2018 (152)
8 gnomAD - Genomes NC_000003.12 - 49890561 Apr 27, 2021 (155)
9 gnomAD - Exomes NC_000003.11 - 49927994 Jul 13, 2019 (153)
10 8.3KJPN NC_000003.11 - 49927994 Apr 27, 2021 (155)
11 14KJPN NC_000003.12 - 49890561 Oct 12, 2022 (156)
12 ALFA NC_000003.12 - 49890561 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
11280193258 NC_000003.12:49890560:C:A NC_000003.12:49890560:C:A (self)
6942335, 2849131, 17020168, ss1687017356, ss2733769886, ss5159050861, ss5935657271 NC_000003.11:49927993:C:T NC_000003.12:49890560:C:T (self)
107107145, 24517813, 11280193258, ss4070667163, ss5690680709 NC_000003.12:49890560:C:T NC_000003.12:49890560:C:T (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 rs772999107

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