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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.

rs1475449150

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:173946751 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.00004 (1/28256, 14KJPN)
G=0.00006 (1/16760, 8.3KJPN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RC3H1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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
14KJPN JAPANESE Study-wide 28256 A=0.99996 G=0.00004
8.3KJPN JAPANESE Study-wide 16760 A=0.99994 G=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 1 NC_000001.11:g.173946751A>C
GRCh38.p14 chr 1 NC_000001.11:g.173946751A>G
GRCh38.p14 chr 1 NC_000001.11:g.173946751A>T
GRCh37.p13 chr 1 NC_000001.10:g.173915889A>C
GRCh37.p13 chr 1 NC_000001.10:g.173915889A>G
GRCh37.p13 chr 1 NC_000001.10:g.173915889A>T
LOC126805924 genomic region NG_082248.1:g.89A>C
LOC126805924 genomic region NG_082248.1:g.89A>G
LOC126805924 genomic region NG_082248.1:g.89A>T
Gene: RC3H1, ring finger and CCCH-type domains 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RC3H1 transcript variant 1 NM_001300850.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform a NP_001287779.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant 1 NM_001300850.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform a NP_001287779.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant 1 NM_001300850.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform a NP_001287779.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant 3 NM_001300851.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform c NP_001287780.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant 3 NM_001300851.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform c NP_001287780.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant 3 NM_001300851.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform c NP_001287780.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant 4 NM_001300852.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform d NP_001287781.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant 4 NM_001300852.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform d NP_001287781.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant 4 NM_001300852.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform d NP_001287781.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant 2 NM_172071.4:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform b NP_742068.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant 2 NM_172071.4:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform b NP_742068.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant 2 NM_172071.4:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform b NP_742068.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X1 XM_047447089.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X1 XP_047303045.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X1 XM_047447089.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X1 XP_047303045.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X1 XM_047447089.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X1 XP_047303045.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X2 XM_047447090.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X1 XP_047303046.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X2 XM_047447090.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X1 XP_047303046.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X2 XM_047447090.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X1 XP_047303046.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X3 XM_047447091.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X2 XP_047303047.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X3 XM_047447091.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X2 XP_047303047.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X3 XM_047447091.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X2 XP_047303047.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X4 XM_047447092.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X3 XP_047303048.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X4 XM_047447092.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X3 XP_047303048.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X4 XM_047447092.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X3 XP_047303048.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X5 XM_047447093.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X3 XP_047303049.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X5 XM_047447093.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X3 XP_047303049.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X5 XM_047447093.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X3 XP_047303049.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X6 XM_047447094.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X4 XP_047303050.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X6 XM_047447094.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X4 XP_047303050.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X6 XM_047447094.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X4 XP_047303050.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X7 XM_047447095.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X4 XP_047303051.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X7 XM_047447095.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X4 XP_047303051.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X7 XM_047447095.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X4 XP_047303051.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X8 XM_005244921.4:c.2760T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X5 XP_005244978.1:p.Ser920Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X8 XM_005244921.4:c.2760T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X5 XP_005244978.1:p.Ser920= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X8 XM_005244921.4:c.2760T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X5 XP_005244978.1:p.Ser920Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X9 XM_047447096.1:c.2760T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X5 XP_047303052.1:p.Ser920Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X9 XM_047447096.1:c.2760T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X5 XP_047303052.1:p.Ser920= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X9 XM_047447096.1:c.2760T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X5 XP_047303052.1:p.Ser920Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X10 XM_047447097.1:c.2760T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X6 XP_047303053.1:p.Ser920Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X10 XM_047447097.1:c.2760T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X6 XP_047303053.1:p.Ser920= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X10 XM_047447097.1:c.2760T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X6 XP_047303053.1:p.Ser920Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X11 XM_047447101.1:c.2760T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X7 XP_047303057.1:p.Ser920Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X11 XM_047447101.1:c.2760T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X7 XP_047303057.1:p.Ser920= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X11 XM_047447101.1:c.2760T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X7 XP_047303057.1:p.Ser920Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X12 XM_047447102.1:c.2760T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X8 XP_047303058.1:p.Ser920Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X12 XM_047447102.1:c.2760T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X8 XP_047303058.1:p.Ser920= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X12 XM_047447102.1:c.2760T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X8 XP_047303058.1:p.Ser920Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X13 XM_047447103.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X9 XP_047303059.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X13 XM_047447103.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X9 XP_047303059.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X13 XM_047447103.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X9 XP_047303059.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X14 XM_047447104.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X9 XP_047303060.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X14 XM_047447104.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X9 XP_047303060.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X14 XM_047447104.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X9 XP_047303060.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X15 XM_047447105.1:c.2823T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X10 XP_047303061.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X15 XM_047447105.1:c.2823T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X10 XP_047303061.1:p.Ser941= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X15 XM_047447105.1:c.2823T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X10 XP_047303061.1:p.Ser941Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X16 XM_047447106.1:c.2760T>G S [AGT] > R [AGG] Coding Sequence Variant
roquin-1 isoform X11 XP_047303062.1:p.Ser920Arg S (Ser) > R (Arg) Missense Variant
RC3H1 transcript variant X16 XM_047447106.1:c.2760T>C S [AGT] > S [AGC] Coding Sequence Variant
roquin-1 isoform X11 XP_047303062.1:p.Ser920= S (Ser) > S (Ser) Synonymous Variant
RC3H1 transcript variant X16 XM_047447106.1:c.2760T>A S [AGT] > R [AGA] Coding Sequence Variant
roquin-1 isoform X11 XP_047303062.1:p.Ser920Arg S (Ser) > R (Arg) 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 A= C G T
GRCh38.p14 chr 1 NC_000001.11:g.173946751= NC_000001.11:g.173946751A>C NC_000001.11:g.173946751A>G NC_000001.11:g.173946751A>T
GRCh37.p13 chr 1 NC_000001.10:g.173915889= NC_000001.10:g.173915889A>C NC_000001.10:g.173915889A>G NC_000001.10:g.173915889A>T
LOC126805924 genomic region NG_082248.1:g.89= NG_082248.1:g.89A>C NG_082248.1:g.89A>G NG_082248.1:g.89A>T
RC3H1 transcript variant 2 NM_172071.4:c.2823= NM_172071.4:c.2823T>G NM_172071.4:c.2823T>C NM_172071.4:c.2823T>A
RC3H1 transcript variant 2 NM_172071.3:c.2823= NM_172071.3:c.2823T>G NM_172071.3:c.2823T>C NM_172071.3:c.2823T>A
RC3H1 transcript NM_172071.2:c.2823= NM_172071.2:c.2823T>G NM_172071.2:c.2823T>C NM_172071.2:c.2823T>A
RC3H1 transcript variant X8 XM_005244921.4:c.2760= XM_005244921.4:c.2760T>G XM_005244921.4:c.2760T>C XM_005244921.4:c.2760T>A
RC3H1 transcript variant X1 XM_005244921.3:c.2760= XM_005244921.3:c.2760T>G XM_005244921.3:c.2760T>C XM_005244921.3:c.2760T>A
RC3H1 transcript variant X2 XM_005244921.2:c.2760= XM_005244921.2:c.2760T>G XM_005244921.2:c.2760T>C XM_005244921.2:c.2760T>A
RC3H1 transcript variant X4 XM_005244921.1:c.2760= XM_005244921.1:c.2760T>G XM_005244921.1:c.2760T>C XM_005244921.1:c.2760T>A
RC3H1 transcript variant X1 XM_047447089.1:c.2823= XM_047447089.1:c.2823T>G XM_047447089.1:c.2823T>C XM_047447089.1:c.2823T>A
RC3H1 transcript variant X4 XM_047447092.1:c.2823= XM_047447092.1:c.2823T>G XM_047447092.1:c.2823T>C XM_047447092.1:c.2823T>A
RC3H1 transcript variant X6 XM_047447094.1:c.2823= XM_047447094.1:c.2823T>G XM_047447094.1:c.2823T>C XM_047447094.1:c.2823T>A
RC3H1 transcript variant X10 XM_047447097.1:c.2760= XM_047447097.1:c.2760T>G XM_047447097.1:c.2760T>C XM_047447097.1:c.2760T>A
RC3H1 transcript variant X11 XM_047447101.1:c.2760= XM_047447101.1:c.2760T>G XM_047447101.1:c.2760T>C XM_047447101.1:c.2760T>A
RC3H1 transcript variant X12 XM_047447102.1:c.2760= XM_047447102.1:c.2760T>G XM_047447102.1:c.2760T>C XM_047447102.1:c.2760T>A
RC3H1 transcript variant X2 XM_047447090.1:c.2823= XM_047447090.1:c.2823T>G XM_047447090.1:c.2823T>C XM_047447090.1:c.2823T>A
RC3H1 transcript variant X3 XM_047447091.1:c.2823= XM_047447091.1:c.2823T>G XM_047447091.1:c.2823T>C XM_047447091.1:c.2823T>A
RC3H1 transcript variant X13 XM_047447103.1:c.2823= XM_047447103.1:c.2823T>G XM_047447103.1:c.2823T>C XM_047447103.1:c.2823T>A
RC3H1 transcript variant X15 XM_047447105.1:c.2823= XM_047447105.1:c.2823T>G XM_047447105.1:c.2823T>C XM_047447105.1:c.2823T>A
RC3H1 transcript variant X5 XM_047447093.1:c.2823= XM_047447093.1:c.2823T>G XM_047447093.1:c.2823T>C XM_047447093.1:c.2823T>A
RC3H1 transcript variant X7 XM_047447095.1:c.2823= XM_047447095.1:c.2823T>G XM_047447095.1:c.2823T>C XM_047447095.1:c.2823T>A
RC3H1 transcript variant X9 XM_047447096.1:c.2760= XM_047447096.1:c.2760T>G XM_047447096.1:c.2760T>C XM_047447096.1:c.2760T>A
RC3H1 transcript variant X16 XM_047447106.1:c.2760= XM_047447106.1:c.2760T>G XM_047447106.1:c.2760T>C XM_047447106.1:c.2760T>A
RC3H1 transcript variant 1 NM_001300850.1:c.2823= NM_001300850.1:c.2823T>G NM_001300850.1:c.2823T>C NM_001300850.1:c.2823T>A
RC3H1 transcript variant X14 XM_047447104.1:c.2823= XM_047447104.1:c.2823T>G XM_047447104.1:c.2823T>C XM_047447104.1:c.2823T>A
RC3H1 transcript variant 3 NM_001300851.1:c.2823= NM_001300851.1:c.2823T>G NM_001300851.1:c.2823T>C NM_001300851.1:c.2823T>A
RC3H1 transcript variant 4 NM_001300852.1:c.2823= NM_001300852.1:c.2823T>G NM_001300852.1:c.2823T>C NM_001300852.1:c.2823T>A
roquin-1 isoform b NP_742068.1:p.Ser941= NP_742068.1:p.Ser941Arg NP_742068.1:p.Ser941= NP_742068.1:p.Ser941Arg
roquin-1 isoform X5 XP_005244978.1:p.Ser920= XP_005244978.1:p.Ser920Arg XP_005244978.1:p.Ser920= XP_005244978.1:p.Ser920Arg
roquin-1 isoform X1 XP_047303045.1:p.Ser941= XP_047303045.1:p.Ser941Arg XP_047303045.1:p.Ser941= XP_047303045.1:p.Ser941Arg
roquin-1 isoform X3 XP_047303048.1:p.Ser941= XP_047303048.1:p.Ser941Arg XP_047303048.1:p.Ser941= XP_047303048.1:p.Ser941Arg
roquin-1 isoform X4 XP_047303050.1:p.Ser941= XP_047303050.1:p.Ser941Arg XP_047303050.1:p.Ser941= XP_047303050.1:p.Ser941Arg
roquin-1 isoform X6 XP_047303053.1:p.Ser920= XP_047303053.1:p.Ser920Arg XP_047303053.1:p.Ser920= XP_047303053.1:p.Ser920Arg
roquin-1 isoform X7 XP_047303057.1:p.Ser920= XP_047303057.1:p.Ser920Arg XP_047303057.1:p.Ser920= XP_047303057.1:p.Ser920Arg
roquin-1 isoform X8 XP_047303058.1:p.Ser920= XP_047303058.1:p.Ser920Arg XP_047303058.1:p.Ser920= XP_047303058.1:p.Ser920Arg
roquin-1 isoform X1 XP_047303046.1:p.Ser941= XP_047303046.1:p.Ser941Arg XP_047303046.1:p.Ser941= XP_047303046.1:p.Ser941Arg
roquin-1 isoform X2 XP_047303047.1:p.Ser941= XP_047303047.1:p.Ser941Arg XP_047303047.1:p.Ser941= XP_047303047.1:p.Ser941Arg
roquin-1 isoform X9 XP_047303059.1:p.Ser941= XP_047303059.1:p.Ser941Arg XP_047303059.1:p.Ser941= XP_047303059.1:p.Ser941Arg
roquin-1 isoform X10 XP_047303061.1:p.Ser941= XP_047303061.1:p.Ser941Arg XP_047303061.1:p.Ser941= XP_047303061.1:p.Ser941Arg
roquin-1 isoform X3 XP_047303049.1:p.Ser941= XP_047303049.1:p.Ser941Arg XP_047303049.1:p.Ser941= XP_047303049.1:p.Ser941Arg
roquin-1 isoform X4 XP_047303051.1:p.Ser941= XP_047303051.1:p.Ser941Arg XP_047303051.1:p.Ser941= XP_047303051.1:p.Ser941Arg
roquin-1 isoform X5 XP_047303052.1:p.Ser920= XP_047303052.1:p.Ser920Arg XP_047303052.1:p.Ser920= XP_047303052.1:p.Ser920Arg
roquin-1 isoform X11 XP_047303062.1:p.Ser920= XP_047303062.1:p.Ser920Arg XP_047303062.1:p.Ser920= XP_047303062.1:p.Ser920Arg
roquin-1 isoform a NP_001287779.1:p.Ser941= NP_001287779.1:p.Ser941Arg NP_001287779.1:p.Ser941= NP_001287779.1:p.Ser941Arg
roquin-1 isoform X9 XP_047303060.1:p.Ser941= XP_047303060.1:p.Ser941Arg XP_047303060.1:p.Ser941= XP_047303060.1:p.Ser941Arg
roquin-1 isoform c NP_001287780.1:p.Ser941= NP_001287780.1:p.Ser941Arg NP_001287780.1:p.Ser941= NP_001287780.1:p.Ser941Arg
roquin-1 isoform d NP_001287781.1:p.Ser941= NP_001287781.1:p.Ser941Arg NP_001287781.1:p.Ser941= NP_001287781.1:p.Ser941Arg
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2732067828 Nov 08, 2017 (151)
2 TOMMO_GENOMICS ss5147088767 Apr 25, 2021 (155)
3 TOMMO_GENOMICS ss5674462084 Oct 12, 2022 (156)
4 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1097095 (NC_000001.10:173915888:A:A 251269/251270, NC_000001.10:173915888:A:C 1/251270)
Row 1097096 (NC_000001.10:173915888:A:A 251269/251270, NC_000001.10:173915888:A:T 1/251270)

- Jul 12, 2019 (153)
5 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1097095 (NC_000001.10:173915888:A:A 251269/251270, NC_000001.10:173915888:A:C 1/251270)
Row 1097096 (NC_000001.10:173915888:A:A 251269/251270, NC_000001.10:173915888:A:T 1/251270)

- Jul 12, 2019 (153)
6 8.3KJPN NC_000001.10 - 173915889 Apr 25, 2021 (155)
7 14KJPN NC_000001.11 - 173946751 Oct 12, 2022 (156)
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
ss2732067828 NC_000001.10:173915888:A:C NC_000001.11:173946750:A:C (self)
5058074, ss5147088767 NC_000001.10:173915888:A:G NC_000001.11:173946750:A:G (self)
8299188, ss5674462084 NC_000001.11:173946750:A:G NC_000001.11:173946750:A:G
ss2732067828 NC_000001.10:173915888:A:T NC_000001.11:173946750:A: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 rs1475449150

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.post820+afb47a3d