Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

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

Https

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

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

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.

rs377413773

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:158645032 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000008 (1/120738, ExAC)
A=0.00000 (0/89986, ALFA)
A=0.00000 (0/78702, PAGE_STUDY) (+ 1 more)
A=0.00008 (1/11994, GO-ESP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RXFP1 : Stop Gained
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 89986 G=1.00000 A=0.00000
European Sub 83144 G=1.00000 A=0.00000
African Sub 1290 G=1.0000 A=0.0000
African Others Sub 54 G=1.00 A=0.00
African American Sub 1236 G=1.0000 A=0.0000
Asian Sub 3196 G=1.0000 A=0.0000
East Asian Sub 2596 G=1.0000 A=0.0000
Other Asian Sub 600 G=1.000 A=0.000
Latin American 1 Sub 290 G=1.000 A=0.000
Latin American 2 Sub 318 G=1.000 A=0.000
South Asian Sub 182 G=1.000 A=0.000
Other Sub 1566 G=1.0000 A=0.0000


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
ExAC Global Study-wide 120738 G=0.999992 A=0.000008
ExAC Europe Sub 73338 G=1.00000 A=0.00000
ExAC Asian Sub 25132 G=1.00000 A=0.00000
ExAC American Sub 11572 G=1.00000 A=0.00000
ExAC African Sub 9798 G=0.9999 A=0.0001
ExAC Other Sub 898 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 89986 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 83144 G=1.00000 A=0.00000
Allele Frequency Aggregator Asian Sub 3196 G=1.0000 A=0.0000
Allele Frequency Aggregator Other Sub 1566 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 1290 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 318 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 290 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 182 G=1.000 A=0.000
The PAGE Study Global Study-wide 78702 G=1.00000 A=0.00000
The PAGE Study AfricanAmerican Sub 32516 G=1.00000 A=0.00000
The PAGE Study Mexican Sub 10810 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4230 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 11994 G=0.99992 A=0.00008
GO Exome Sequencing Project European American Sub 8238 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 3756 G=0.9997 A=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 4 NC_000004.12:g.158645032G>A
GRCh38.p14 chr 4 NC_000004.12:g.158645032G>T
GRCh37.p13 chr 4 NC_000004.11:g.159566184G>A
GRCh37.p13 chr 4 NC_000004.11:g.159566184G>T
RXFP1 RefSeqGene NG_031835.2:g.128319G>A
RXFP1 RefSeqGene NG_031835.2:g.128319G>T
Gene: RXFP1, relaxin family peptide receptor 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RXFP1 transcript variant 14 NM_001363776.1:c.996G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform 8 NP_001350705.1:p.Trp332Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant 14 NM_001363776.1:c.996G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform 8 NP_001350705.1:p.Trp332Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant 1 NM_021634.4:c.1239G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform 1 precursor NP_067647.2:p.Trp413Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant 1 NM_021634.4:c.1239G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform 1 precursor NP_067647.2:p.Trp413Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant 3 NM_001253728.2:c.1140G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform 3 precursor NP_001240657.1:p.Trp380Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant 3 NM_001253728.2:c.1140G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform 3 precursor NP_001240657.1:p.Trp380Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant 6 NM_001253732.2:c.843G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform 6 NP_001240661.1:p.Trp281Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant 6 NM_001253732.2:c.843G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform 6 NP_001240661.1:p.Trp281Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant 4 NM_001253729.2:c.1095G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform 4 precursor NP_001240658.1:p.Trp365Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant 4 NM_001253729.2:c.1095G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform 4 precursor NP_001240658.1:p.Trp365Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant 2 NM_001253727.2:c.1320G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform 2 precursor NP_001240656.1:p.Trp440Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant 2 NM_001253727.2:c.1320G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform 2 precursor NP_001240656.1:p.Trp440Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant 5 NM_001253730.2:c.846G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform 5 NP_001240659.1:p.Trp282Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant 5 NM_001253730.2:c.846G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform 5 NP_001240659.1:p.Trp282Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant 7 NM_001253733.2:c.771G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform 7 NP_001240662.1:p.Trp257Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant 7 NM_001253733.2:c.771G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform 7 NP_001240662.1:p.Trp257Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant 13 NR_045584.2:n.1387G>A N/A Non Coding Transcript Variant
RXFP1 transcript variant 13 NR_045584.2:n.1387G>T N/A Non Coding Transcript Variant
RXFP1 transcript variant 9 NR_045580.2:n.1387G>A N/A Non Coding Transcript Variant
RXFP1 transcript variant 9 NR_045580.2:n.1387G>T N/A Non Coding Transcript Variant
RXFP1 transcript variant 8 NR_045579.2:n.1951G>A N/A Non Coding Transcript Variant
RXFP1 transcript variant 8 NR_045579.2:n.1951G>T N/A Non Coding Transcript Variant
RXFP1 transcript variant 12 NR_045583.2:n.1274G>A N/A Non Coding Transcript Variant
RXFP1 transcript variant 12 NR_045583.2:n.1274G>T N/A Non Coding Transcript Variant
RXFP1 transcript variant 11 NR_045582.2:n.1295G>A N/A Non Coding Transcript Variant
RXFP1 transcript variant 11 NR_045582.2:n.1295G>T N/A Non Coding Transcript Variant
RXFP1 transcript variant 10 NR_045581.2:n.1358G>A N/A Non Coding Transcript Variant
RXFP1 transcript variant 10 NR_045581.2:n.1358G>T N/A Non Coding Transcript Variant
RXFP1 transcript variant X7 XM_011532179.3:c.1196+570…

XM_011532179.3:c.1196+5701G>A

 		N/A Intron Variant
RXFP1 transcript variant X8 XM_017008523.3:c.1115+570…

XM_017008523.3:c.1115+5701G>A

 		N/A Intron Variant
RXFP1 transcript variant X9 XM_017008524.3:c.1043+570…

XM_017008524.3:c.1043+5701G>A

 		N/A Intron Variant
RXFP1 transcript variant X10 XM_017008525.2:c.1016+570…

XM_017008525.2:c.1016+5701G>A

 		N/A Intron Variant
RXFP1 transcript variant X1 XM_011532174.2:c.1317G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform X1 XP_011530476.1:p.Trp439Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant X1 XM_011532174.2:c.1317G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform X1 XP_011530476.1:p.Trp439Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant X2 XM_011532175.2:c.1248G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform X2 XP_011530477.1:p.Trp416Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant X2 XM_011532175.2:c.1248G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform X2 XP_011530477.1:p.Trp416Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant X3 XM_017008517.2:c.1245G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform X3 XP_016864006.1:p.Trp415Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant X3 XM_017008517.2:c.1245G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform X3 XP_016864006.1:p.Trp415Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant X4 XM_017008518.3:c.1236G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform X4 XP_016864007.1:p.Trp412Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant X4 XM_017008518.3:c.1236G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform X4 XP_016864007.1:p.Trp412Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant X5 XM_011532176.3:c.1167G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform X5 XP_011530478.1:p.Trp389Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant X5 XM_011532176.3:c.1167G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform X5 XP_011530478.1:p.Trp389Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant X6 XM_017008520.2:c.1077G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform X6 XP_016864009.1:p.Trp359Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant X6 XM_017008520.2:c.1077G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform X6 XP_016864009.1:p.Trp359Cys W (Trp) > C (Cys) Missense Variant
RXFP1 transcript variant X11 XM_017008526.2:c.771G>A W [TGG] > * [TGA] Coding Sequence Variant
relaxin receptor 1 isoform X11 XP_016864015.1:p.Trp257Ter W (Trp) > * (Ter) Stop Gained
RXFP1 transcript variant X11 XM_017008526.2:c.771G>T W [TGG] > C [TGT] Coding Sequence Variant
relaxin receptor 1 isoform X11 XP_016864015.1:p.Trp257Cys W (Trp) > C (Cys) 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 G= A T
GRCh38.p14 chr 4 NC_000004.12:g.158645032= NC_000004.12:g.158645032G>A NC_000004.12:g.158645032G>T
GRCh37.p13 chr 4 NC_000004.11:g.159566184= NC_000004.11:g.159566184G>A NC_000004.11:g.159566184G>T
RXFP1 RefSeqGene NG_031835.2:g.128319= NG_031835.2:g.128319G>A NG_031835.2:g.128319G>T
RXFP1 transcript variant 1 NM_021634.4:c.1239= NM_021634.4:c.1239G>A NM_021634.4:c.1239G>T
RXFP1 transcript variant 1 NM_021634.3:c.1239= NM_021634.3:c.1239G>A NM_021634.3:c.1239G>T
RXFP1 transcript variant 8 NR_045579.2:n.1951= NR_045579.2:n.1951G>A NR_045579.2:n.1951G>T
RXFP1 transcript variant 8 NR_045579.1:n.2119= NR_045579.1:n.2119G>A NR_045579.1:n.2119G>T
RXFP1 transcript variant 6 NM_001253732.2:c.843= NM_001253732.2:c.843G>A NM_001253732.2:c.843G>T
RXFP1 transcript variant 6 NM_001253732.1:c.843= NM_001253732.1:c.843G>A NM_001253732.1:c.843G>T
RXFP1 transcript variant 2 NM_001253727.2:c.1320= NM_001253727.2:c.1320G>A NM_001253727.2:c.1320G>T
RXFP1 transcript variant 2 NM_001253727.1:c.1320= NM_001253727.1:c.1320G>A NM_001253727.1:c.1320G>T
RXFP1 transcript variant 9 NR_045580.2:n.1387= NR_045580.2:n.1387G>A NR_045580.2:n.1387G>T
RXFP1 transcript variant 9 NR_045580.1:n.1555= NR_045580.1:n.1555G>A NR_045580.1:n.1555G>T
RXFP1 transcript variant 10 NR_045581.2:n.1358= NR_045581.2:n.1358G>A NR_045581.2:n.1358G>T
RXFP1 transcript variant 10 NR_045581.1:n.1526= NR_045581.1:n.1526G>A NR_045581.1:n.1526G>T
RXFP1 transcript variant 7 NM_001253733.2:c.771= NM_001253733.2:c.771G>A NM_001253733.2:c.771G>T
RXFP1 transcript variant 7 NM_001253733.1:c.771= NM_001253733.1:c.771G>A NM_001253733.1:c.771G>T
RXFP1 transcript variant 11 NR_045582.2:n.1295= NR_045582.2:n.1295G>A NR_045582.2:n.1295G>T
RXFP1 transcript variant 11 NR_045582.1:n.1463= NR_045582.1:n.1463G>A NR_045582.1:n.1463G>T
RXFP1 transcript variant 12 NR_045583.2:n.1274= NR_045583.2:n.1274G>A NR_045583.2:n.1274G>T
RXFP1 transcript variant 12 NR_045583.1:n.1442= NR_045583.1:n.1442G>A NR_045583.1:n.1442G>T
RXFP1 transcript variant 5 NM_001253730.2:c.846= NM_001253730.2:c.846G>A NM_001253730.2:c.846G>T
RXFP1 transcript variant 5 NM_001253730.1:c.846= NM_001253730.1:c.846G>A NM_001253730.1:c.846G>T
RXFP1 transcript variant 3 NM_001253728.2:c.1140= NM_001253728.2:c.1140G>A NM_001253728.2:c.1140G>T
RXFP1 transcript variant 3 NM_001253728.1:c.1140= NM_001253728.1:c.1140G>A NM_001253728.1:c.1140G>T
RXFP1 transcript variant 4 NM_001253729.2:c.1095= NM_001253729.2:c.1095G>A NM_001253729.2:c.1095G>T
RXFP1 transcript variant 4 NM_001253729.1:c.1095= NM_001253729.1:c.1095G>A NM_001253729.1:c.1095G>T
RXFP1 transcript variant 13 NR_045584.2:n.1387= NR_045584.2:n.1387G>A NR_045584.2:n.1387G>T
RXFP1 transcript variant 13 NR_045584.1:n.1555= NR_045584.1:n.1555G>A NR_045584.1:n.1555G>T
RXFP1 transcript variant 14 NM_001363776.1:c.996= NM_001363776.1:c.996G>A NM_001363776.1:c.996G>T
RXFP1 transcript variant X4 XM_017008518.3:c.1236= XM_017008518.3:c.1236G>A XM_017008518.3:c.1236G>T
RXFP1 transcript variant X4 XM_017008518.2:c.1236= XM_017008518.2:c.1236G>A XM_017008518.2:c.1236G>T
RXFP1 transcript variant X4 XM_017008518.1:c.1236= XM_017008518.1:c.1236G>A XM_017008518.1:c.1236G>T
RXFP1 transcript variant X5 XM_011532176.3:c.1167= XM_011532176.3:c.1167G>A XM_011532176.3:c.1167G>T
RXFP1 transcript variant X5 XM_011532176.2:c.1167= XM_011532176.2:c.1167G>A XM_011532176.2:c.1167G>T
RXFP1 transcript variant X5 XM_011532176.1:c.1167= XM_011532176.1:c.1167G>A XM_011532176.1:c.1167G>T
RXFP1 transcript variant X1 XM_011532174.2:c.1317= XM_011532174.2:c.1317G>A XM_011532174.2:c.1317G>T
RXFP1 transcript variant X1 XM_011532174.1:c.1317= XM_011532174.1:c.1317G>A XM_011532174.1:c.1317G>T
RXFP1 transcript variant X2 XM_011532175.2:c.1248= XM_011532175.2:c.1248G>A XM_011532175.2:c.1248G>T
RXFP1 transcript variant X2 XM_011532175.1:c.1248= XM_011532175.1:c.1248G>A XM_011532175.1:c.1248G>T
RXFP1 transcript variant X3 XM_017008517.2:c.1245= XM_017008517.2:c.1245G>A XM_017008517.2:c.1245G>T
RXFP1 transcript variant X3 XM_017008517.1:c.1245= XM_017008517.1:c.1245G>A XM_017008517.1:c.1245G>T
RXFP1 transcript variant X6 XM_017008520.2:c.1077= XM_017008520.2:c.1077G>A XM_017008520.2:c.1077G>T
RXFP1 transcript variant X7 XM_017008520.1:c.1077= XM_017008520.1:c.1077G>A XM_017008520.1:c.1077G>T
RXFP1 transcript variant X11 XM_017008526.2:c.771= XM_017008526.2:c.771G>A XM_017008526.2:c.771G>T
RXFP1 transcript variant X14 XM_017008526.1:c.771= XM_017008526.1:c.771G>A XM_017008526.1:c.771G>T
relaxin receptor 1 isoform 1 precursor NP_067647.2:p.Trp413= NP_067647.2:p.Trp413Ter NP_067647.2:p.Trp413Cys
relaxin receptor 1 isoform 6 NP_001240661.1:p.Trp281= NP_001240661.1:p.Trp281Ter NP_001240661.1:p.Trp281Cys
relaxin receptor 1 isoform 2 precursor NP_001240656.1:p.Trp440= NP_001240656.1:p.Trp440Ter NP_001240656.1:p.Trp440Cys
relaxin receptor 1 isoform 7 NP_001240662.1:p.Trp257= NP_001240662.1:p.Trp257Ter NP_001240662.1:p.Trp257Cys
relaxin receptor 1 isoform 5 NP_001240659.1:p.Trp282= NP_001240659.1:p.Trp282Ter NP_001240659.1:p.Trp282Cys
relaxin receptor 1 isoform 3 precursor NP_001240657.1:p.Trp380= NP_001240657.1:p.Trp380Ter NP_001240657.1:p.Trp380Cys
relaxin receptor 1 isoform 4 precursor NP_001240658.1:p.Trp365= NP_001240658.1:p.Trp365Ter NP_001240658.1:p.Trp365Cys
relaxin receptor 1 isoform 8 NP_001350705.1:p.Trp332= NP_001350705.1:p.Trp332Ter NP_001350705.1:p.Trp332Cys
relaxin receptor 1 isoform X4 XP_016864007.1:p.Trp412= XP_016864007.1:p.Trp412Ter XP_016864007.1:p.Trp412Cys
relaxin receptor 1 isoform X5 XP_011530478.1:p.Trp389= XP_011530478.1:p.Trp389Ter XP_011530478.1:p.Trp389Cys
relaxin receptor 1 isoform X1 XP_011530476.1:p.Trp439= XP_011530476.1:p.Trp439Ter XP_011530476.1:p.Trp439Cys
relaxin receptor 1 isoform X2 XP_011530477.1:p.Trp416= XP_011530477.1:p.Trp416Ter XP_011530477.1:p.Trp416Cys
relaxin receptor 1 isoform X3 XP_016864006.1:p.Trp415= XP_016864006.1:p.Trp415Ter XP_016864006.1:p.Trp415Cys
relaxin receptor 1 isoform X6 XP_016864009.1:p.Trp359= XP_016864009.1:p.Trp359Ter XP_016864009.1:p.Trp359Cys
relaxin receptor 1 isoform X11 XP_016864015.1:p.Trp257= XP_016864015.1:p.Trp257Ter XP_016864015.1:p.Trp257Cys
RXFP1 transcript variant X7 XM_011532179.3:c.1196+5701= XM_011532179.3:c.1196+5701G>A XM_011532179.3:c.1196+5701G>T
RXFP1 transcript variant X8 XM_017008523.3:c.1115+5701= XM_017008523.3:c.1115+5701G>A XM_017008523.3:c.1115+5701G>T
RXFP1 transcript variant X9 XM_017008524.3:c.1043+5701= XM_017008524.3:c.1043+5701G>A XM_017008524.3:c.1043+5701G>T
RXFP1 transcript variant X10 XM_017008525.2:c.1016+5701= XM_017008525.2:c.1016+5701G>A XM_017008525.2:c.1016+5701G>T
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#.

17 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss712616906 Apr 25, 2013 (138)
2 EVA_EXAC ss1687678093 Apr 01, 2015 (144)
3 ILLUMINA ss1946131233 Feb 12, 2016 (147)
4 ILLUMINA ss1958734215 Feb 12, 2016 (147)
5 GNOMAD ss2734798448 Nov 08, 2017 (151)
6 AFFY ss2985307545 Nov 08, 2017 (151)
7 ILLUMINA ss3022431060 Nov 08, 2017 (151)
8 ILLUMINA ss3625859150 Oct 12, 2018 (152)
9 ILLUMINA ss3644864082 Oct 12, 2018 (152)
10 ILLUMINA ss3652921815 Oct 12, 2018 (152)
11 ILLUMINA ss3654079714 Oct 12, 2018 (152)
12 ILLUMINA ss3726185129 Jul 13, 2019 (153)
13 ILLUMINA ss3744243962 Jul 13, 2019 (153)
14 PAGE_CC ss3771164490 Jul 13, 2019 (153)
15 EVA ss3824054734 Apr 26, 2020 (154)
16 EVA ss5848030431 Oct 17, 2022 (156)
17 EVA ss5964909758 Oct 17, 2022 (156)
18 ExAC NC_000004.11 - 159566184 Oct 12, 2018 (152)
19 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3911013 (NC_000004.11:159566183:G:G 249405/249406, NC_000004.11:159566183:G:A 1/249406)
Row 3911014 (NC_000004.11:159566183:G:G 249404/249406, NC_000004.11:159566183:G:T 2/249406)

- Jul 13, 2019 (153)
20 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3911013 (NC_000004.11:159566183:G:G 249405/249406, NC_000004.11:159566183:G:A 1/249406)
Row 3911014 (NC_000004.11:159566183:G:G 249404/249406, NC_000004.11:159566183:G:T 2/249406)

- Jul 13, 2019 (153)
21 GO Exome Sequencing Project NC_000004.11 - 159566184 Oct 12, 2018 (152)
22 The PAGE Study NC_000004.12 - 158645032 Jul 13, 2019 (153)
23 ALFA NC_000004.12 - 158645032 Apr 26, 2021 (155)
Help

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

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
7658353, 512914, ss712616906, ss1687678093, ss1946131233, ss1958734215, ss2985307545, ss3022431060, ss3625859150, ss3644864082, ss3652921815, ss3654079714, ss3744243962, ss3824054734, ss5848030431, ss5964909758 NC_000004.11:159566183:G:A NC_000004.12:158645031:G:A (self)
385959, 12781873555, ss3726185129, ss3771164490 NC_000004.12:158645031:G:A NC_000004.12:158645031:G:A (self)
ss2734798448 NC_000004.11:159566183:G:T NC_000004.12:158645031:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs377413773

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