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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.

rs771543750

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:144516304 (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>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/241952, GnomAD_exome)
T=0.000000 (0/110962, ExAC)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RECQL4 : Missense Variant
LRRC14 : 2KB Upstream 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
gnomAD - Exomes Global Study-wide 241952 G=0.999996 C=0.000004
gnomAD - Exomes European Sub 129674 G=0.999992 C=0.000008
gnomAD - Exomes Asian Sub 47824 G=1.00000 C=0.00000
gnomAD - Exomes American Sub 33998 G=1.00000 C=0.00000
gnomAD - Exomes African Sub 14768 G=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9810 G=1.0000 C=0.0000
gnomAD - Exomes Other Sub 5878 G=1.0000 C=0.0000
ExAC Global Study-wide 110962 G=1.000000 T=0.000000
ExAC Europe Sub 67002 G=1.00000 T=0.00000
ExAC Asian Sub 23774 G=1.00000 T=0.00000
ExAC American Sub 10634 G=1.00000 T=0.00000
ExAC African Sub 8750 G=1.0000 T=0.0000
ExAC Other Sub 802 G=1.000 T=0.000
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 8 NC_000008.11:g.144516304G>A
GRCh38.p14 chr 8 NC_000008.11:g.144516304G>C
GRCh38.p14 chr 8 NC_000008.11:g.144516304G>T
GRCh37.p13 chr 8 NC_000008.10:g.145741688G>A
GRCh37.p13 chr 8 NC_000008.10:g.145741688G>C
GRCh37.p13 chr 8 NC_000008.10:g.145741688G>T
LRRC14 RefSeqGene NG_033083.2:g.3314G>A
LRRC14 RefSeqGene NG_033083.2:g.3314G>C
LRRC14 RefSeqGene NG_033083.2:g.3314G>T
LRRC14 RefSeqGene NG_033083.1:g.3340G>A
LRRC14 RefSeqGene NG_033083.1:g.3340G>C
LRRC14 RefSeqGene NG_033083.1:g.3340G>T
RECQL4 RefSeqGene (LRG_277) NG_016430.2:g.6523C>T
RECQL4 RefSeqGene (LRG_277) NG_016430.2:g.6523C>G
RECQL4 RefSeqGene (LRG_277) NG_016430.2:g.6523C>A
Gene: LRRC14, leucine rich repeat containing 14 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LRRC14 transcript variant 1 NM_001272036.2:c. N/A Upstream Transcript Variant
LRRC14 transcript variant 2 NM_014665.4:c. N/A Upstream Transcript Variant
LRRC14 transcript variant X1 XM_005272358.6:c. N/A Upstream Transcript Variant
LRRC14 transcript variant X6 XM_005272359.6:c. N/A Upstream Transcript Variant
LRRC14 transcript variant X18 XM_017014005.3:c. N/A Upstream Transcript Variant
LRRC14 transcript variant X10 XM_024447336.2:c. N/A Upstream Transcript Variant
LRRC14 transcript variant X17 XM_024447337.2:c. N/A Upstream Transcript Variant
LRRC14 transcript variant X2 XR_007060765.1:n. N/A Upstream Transcript Variant
LRRC14 transcript variant X3 XR_007060766.1:n. N/A Upstream Transcript Variant
LRRC14 transcript variant X4 XR_007060767.1:n. N/A Upstream Transcript Variant
LRRC14 transcript variant X5 XR_007060768.1:n. N/A Upstream Transcript Variant
LRRC14 transcript variant X7 XR_007060769.1:n. N/A Upstream Transcript Variant
LRRC14 transcript variant X8 XR_007060770.1:n. N/A Upstream Transcript Variant
LRRC14 transcript variant X9 XR_007060771.1:n. N/A Upstream Transcript Variant
LRRC14 transcript variant X11 XR_007060772.1:n. N/A Upstream Transcript Variant
LRRC14 transcript variant X12 XR_007060773.1:n. N/A Upstream Transcript Variant
LRRC14 transcript variant X13 XR_007060774.1:n. N/A Upstream Transcript Variant
LRRC14 transcript variant X14 XR_007060775.1:n. N/A Upstream Transcript Variant
LRRC14 transcript variant X15 XR_007060776.1:n. N/A Upstream Transcript Variant
LRRC14 transcript variant X16 XR_007060777.1:n. N/A Upstream Transcript Variant
Gene: RECQL4, RecQ like helicase 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RECQL4 transcript variant 1 NM_004260.4:c.815C>T P [CCC] > L [CTC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform 1 NP_004251.4:p.Pro272Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant 1 NM_004260.4:c.815C>G P [CCC] > R [CGC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform 1 NP_004251.4:p.Pro272Arg P (Pro) > R (Arg) Missense Variant
RECQL4 transcript variant 1 NM_004260.4:c.815C>A P [CCC] > H [CAC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform 1 NP_004251.4:p.Pro272His P (Pro) > H (His) Missense Variant
RECQL4 transcript variant X10 XM_047422445.1:c. N/A Genic Upstream Transcript Variant
RECQL4 transcript variant X11 XM_047422446.1:c. N/A Genic Upstream Transcript Variant
RECQL4 transcript variant X1 XM_047422437.1:c.815C>T P [CCC] > L [CTC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X1 XP_047278393.1:p.Pro272Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant X1 XM_047422437.1:c.815C>G P [CCC] > R [CGC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X1 XP_047278393.1:p.Pro272Arg P (Pro) > R (Arg) Missense Variant
RECQL4 transcript variant X1 XM_047422437.1:c.815C>A P [CCC] > H [CAC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X1 XP_047278393.1:p.Pro272His P (Pro) > H (His) Missense Variant
RECQL4 transcript variant X1 XM_047422438.1:c.815C>T P [CCC] > L [CTC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X1 XP_047278394.1:p.Pro272Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant X1 XM_047422438.1:c.815C>G P [CCC] > R [CGC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X1 XP_047278394.1:p.Pro272Arg P (Pro) > R (Arg) Missense Variant
RECQL4 transcript variant X1 XM_047422438.1:c.815C>A P [CCC] > H [CAC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X1 XP_047278394.1:p.Pro272His P (Pro) > H (His) Missense Variant
RECQL4 transcript variant X3 XM_047422439.1:c.815C>T P [CCC] > L [CTC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X3 XP_047278395.1:p.Pro272Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant X3 XM_047422439.1:c.815C>G P [CCC] > R [CGC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X3 XP_047278395.1:p.Pro272Arg P (Pro) > R (Arg) Missense Variant
RECQL4 transcript variant X3 XM_047422439.1:c.815C>A P [CCC] > H [CAC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X3 XP_047278395.1:p.Pro272His P (Pro) > H (His) Missense Variant
RECQL4 transcript variant X2 XM_047422440.1:c.815C>T P [CCC] > L [CTC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X2 XP_047278396.1:p.Pro272Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant X2 XM_047422440.1:c.815C>G P [CCC] > R [CGC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X2 XP_047278396.1:p.Pro272Arg P (Pro) > R (Arg) Missense Variant
RECQL4 transcript variant X2 XM_047422440.1:c.815C>A P [CCC] > H [CAC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X2 XP_047278396.1:p.Pro272His P (Pro) > H (His) Missense Variant
RECQL4 transcript variant X5 XM_011517384.4:c.815C>T P [CCC] > L [CTC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X5 XP_011515686.1:p.Pro272Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant X5 XM_011517384.4:c.815C>G P [CCC] > R [CGC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X5 XP_011515686.1:p.Pro272Arg P (Pro) > R (Arg) Missense Variant
RECQL4 transcript variant X5 XM_011517384.4:c.815C>A P [CCC] > H [CAC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X5 XP_011515686.1:p.Pro272His P (Pro) > H (His) Missense Variant
RECQL4 transcript variant X3 XM_047422441.1:c.815C>T P [CCC] > L [CTC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X3 XP_047278397.1:p.Pro272Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant X3 XM_047422441.1:c.815C>G P [CCC] > R [CGC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X3 XP_047278397.1:p.Pro272Arg P (Pro) > R (Arg) Missense Variant
RECQL4 transcript variant X3 XM_047422441.1:c.815C>A P [CCC] > H [CAC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X3 XP_047278397.1:p.Pro272His P (Pro) > H (His) Missense Variant
RECQL4 transcript variant X7 XM_047422442.1:c.815C>T P [CCC] > L [CTC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X7 XP_047278398.1:p.Pro272Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant X7 XM_047422442.1:c.815C>G P [CCC] > R [CGC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X7 XP_047278398.1:p.Pro272Arg P (Pro) > R (Arg) Missense Variant
RECQL4 transcript variant X7 XM_047422442.1:c.815C>A P [CCC] > H [CAC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X7 XP_047278398.1:p.Pro272His P (Pro) > H (His) Missense Variant
RECQL4 transcript variant X4 XM_047422443.1:c.815C>T P [CCC] > L [CTC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X4 XP_047278399.1:p.Pro272Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant X4 XM_047422443.1:c.815C>G P [CCC] > R [CGC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X4 XP_047278399.1:p.Pro272Arg P (Pro) > R (Arg) Missense Variant
RECQL4 transcript variant X4 XM_047422443.1:c.815C>A P [CCC] > H [CAC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X4 XP_047278399.1:p.Pro272His P (Pro) > H (His) Missense Variant
RECQL4 transcript variant X5 XM_047422444.1:c.815C>T P [CCC] > L [CTC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X5 XP_047278400.1:p.Pro272Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant X5 XM_047422444.1:c.815C>G P [CCC] > R [CGC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X5 XP_047278400.1:p.Pro272Arg P (Pro) > R (Arg) Missense Variant
RECQL4 transcript variant X5 XM_047422444.1:c.815C>A P [CCC] > H [CAC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X5 XP_047278400.1:p.Pro272His P (Pro) > H (His) Missense Variant
RECQL4 transcript variant X12 XM_047422447.1:c.815C>T P [CCC] > L [CTC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X12 XP_047278403.1:p.Pro272Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant X12 XM_047422447.1:c.815C>G P [CCC] > R [CGC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X12 XP_047278403.1:p.Pro272Arg P (Pro) > R (Arg) Missense Variant
RECQL4 transcript variant X12 XM_047422447.1:c.815C>A P [CCC] > H [CAC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X12 XP_047278403.1:p.Pro272His P (Pro) > H (His) Missense Variant
RECQL4 transcript variant X6 XM_047422448.1:c.815C>T P [CCC] > L [CTC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X6 XP_047278404.1:p.Pro272Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant X6 XM_047422448.1:c.815C>G P [CCC] > R [CGC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X6 XP_047278404.1:p.Pro272Arg P (Pro) > R (Arg) Missense Variant
RECQL4 transcript variant X6 XM_047422448.1:c.815C>A P [CCC] > H [CAC] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X6 XP_047278404.1:p.Pro272His P (Pro) > H (His) 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.

Allele: A (allele ID: 1390423 )
ClinVar Accession Disease Names Clinical Significance
RCV001931052.3 Baller-Gerold syndrome Uncertain-Significance
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 C T
GRCh38.p14 chr 8 NC_000008.11:g.144516304= NC_000008.11:g.144516304G>A NC_000008.11:g.144516304G>C NC_000008.11:g.144516304G>T
GRCh37.p13 chr 8 NC_000008.10:g.145741688= NC_000008.10:g.145741688G>A NC_000008.10:g.145741688G>C NC_000008.10:g.145741688G>T
LRRC14 RefSeqGene NG_033083.2:g.3314= NG_033083.2:g.3314G>A NG_033083.2:g.3314G>C NG_033083.2:g.3314G>T
LRRC14 RefSeqGene NG_033083.1:g.3340= NG_033083.1:g.3340G>A NG_033083.1:g.3340G>C NG_033083.1:g.3340G>T
RECQL4 RefSeqGene (LRG_277) NG_016430.2:g.6523= NG_016430.2:g.6523C>T NG_016430.2:g.6523C>G NG_016430.2:g.6523C>A
RECQL4 transcript variant 1 NM_004260.4:c.815= NM_004260.4:c.815C>T NM_004260.4:c.815C>G NM_004260.4:c.815C>A
RECQL4 transcript NM_004260.3:c.815= NM_004260.3:c.815C>T NM_004260.3:c.815C>G NM_004260.3:c.815C>A
RECQL4 transcript variant X5 XM_011517384.4:c.815= XM_011517384.4:c.815C>T XM_011517384.4:c.815C>G XM_011517384.4:c.815C>A
RECQL4 transcript variant X11 XM_011517384.3:c.815= XM_011517384.3:c.815C>T XM_011517384.3:c.815C>G XM_011517384.3:c.815C>A
RECQL4 transcript variant X11 XM_011517384.2:c.815= XM_011517384.2:c.815C>T XM_011517384.2:c.815C>G XM_011517384.2:c.815C>A
RECQL4 transcript variant X5 XM_011517384.1:c.815= XM_011517384.1:c.815C>T XM_011517384.1:c.815C>G XM_011517384.1:c.815C>A
RECQL4 transcript variant X1 XM_047422437.1:c.815= XM_047422437.1:c.815C>T XM_047422437.1:c.815C>G XM_047422437.1:c.815C>A
RECQL4 transcript variant X1 XM_047422438.1:c.815= XM_047422438.1:c.815C>T XM_047422438.1:c.815C>G XM_047422438.1:c.815C>A
RECQL4 transcript variant X3 XM_047422439.1:c.815= XM_047422439.1:c.815C>T XM_047422439.1:c.815C>G XM_047422439.1:c.815C>A
RECQL4 transcript variant X2 XM_047422440.1:c.815= XM_047422440.1:c.815C>T XM_047422440.1:c.815C>G XM_047422440.1:c.815C>A
RECQL4 transcript variant X7 XM_047422442.1:c.815= XM_047422442.1:c.815C>T XM_047422442.1:c.815C>G XM_047422442.1:c.815C>A
RECQL4 transcript variant X3 XM_047422441.1:c.815= XM_047422441.1:c.815C>T XM_047422441.1:c.815C>G XM_047422441.1:c.815C>A
RECQL4 transcript variant X4 XM_047422443.1:c.815= XM_047422443.1:c.815C>T XM_047422443.1:c.815C>G XM_047422443.1:c.815C>A
RECQL4 transcript variant X5 XM_047422444.1:c.815= XM_047422444.1:c.815C>T XM_047422444.1:c.815C>G XM_047422444.1:c.815C>A
RECQL4 transcript variant X12 XM_047422447.1:c.815= XM_047422447.1:c.815C>T XM_047422447.1:c.815C>G XM_047422447.1:c.815C>A
RECQL4 transcript variant X6 XM_047422448.1:c.815= XM_047422448.1:c.815C>T XM_047422448.1:c.815C>G XM_047422448.1:c.815C>A
ATP-dependent DNA helicase Q4 isoform 1 NP_004251.4:p.Pro272= NP_004251.4:p.Pro272Leu NP_004251.4:p.Pro272Arg NP_004251.4:p.Pro272His
ATP-dependent DNA helicase Q4 isoform X5 XP_011515686.1:p.Pro272= XP_011515686.1:p.Pro272Leu XP_011515686.1:p.Pro272Arg XP_011515686.1:p.Pro272His
ATP-dependent DNA helicase Q4 isoform X1 XP_047278393.1:p.Pro272= XP_047278393.1:p.Pro272Leu XP_047278393.1:p.Pro272Arg XP_047278393.1:p.Pro272His
ATP-dependent DNA helicase Q4 isoform X1 XP_047278394.1:p.Pro272= XP_047278394.1:p.Pro272Leu XP_047278394.1:p.Pro272Arg XP_047278394.1:p.Pro272His
ATP-dependent DNA helicase Q4 isoform X3 XP_047278395.1:p.Pro272= XP_047278395.1:p.Pro272Leu XP_047278395.1:p.Pro272Arg XP_047278395.1:p.Pro272His
ATP-dependent DNA helicase Q4 isoform X2 XP_047278396.1:p.Pro272= XP_047278396.1:p.Pro272Leu XP_047278396.1:p.Pro272Arg XP_047278396.1:p.Pro272His
ATP-dependent DNA helicase Q4 isoform X7 XP_047278398.1:p.Pro272= XP_047278398.1:p.Pro272Leu XP_047278398.1:p.Pro272Arg XP_047278398.1:p.Pro272His
ATP-dependent DNA helicase Q4 isoform X3 XP_047278397.1:p.Pro272= XP_047278397.1:p.Pro272Leu XP_047278397.1:p.Pro272Arg XP_047278397.1:p.Pro272His
ATP-dependent DNA helicase Q4 isoform X4 XP_047278399.1:p.Pro272= XP_047278399.1:p.Pro272Leu XP_047278399.1:p.Pro272Arg XP_047278399.1:p.Pro272His
ATP-dependent DNA helicase Q4 isoform X5 XP_047278400.1:p.Pro272= XP_047278400.1:p.Pro272Leu XP_047278400.1:p.Pro272Arg XP_047278400.1:p.Pro272His
ATP-dependent DNA helicase Q4 isoform X12 XP_047278403.1:p.Pro272= XP_047278403.1:p.Pro272Leu XP_047278403.1:p.Pro272Arg XP_047278403.1:p.Pro272His
ATP-dependent DNA helicase Q4 isoform X6 XP_047278404.1:p.Pro272= XP_047278404.1:p.Pro272Leu XP_047278404.1:p.Pro272Arg XP_047278404.1:p.Pro272His
ATP-dependent DNA helicase Q4 NP_004251.3:p.Pro272= NP_004251.3:p.Pro272Leu NP_004251.3:p.Pro272Arg NP_004251.3:p.Pro272His
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, 2 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1689385210 Apr 01, 2015 (144)
2 GNOMAD ss2737453048 Nov 08, 2017 (151)
3 EVA ss5935965389 Oct 16, 2022 (156)
4 ExAC NC_000008.10 - 145741688 Oct 12, 2018 (152)
5 gnomAD - Exomes NC_000008.10 - 145741688 Jul 13, 2019 (153)
6 ClinVar RCV001931052.3 Oct 16, 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
ss5935965389 NC_000008.10:145741687:G:A NC_000008.11:144516303:G:A
RCV001931052.3 NC_000008.11:144516303:G:A NC_000008.11:144516303:G:A
6628435, ss2737453048 NC_000008.10:145741687:G:C NC_000008.11:144516303:G:C (self)
9500557, ss1689385210 NC_000008.10:145741687:G:T NC_000008.11:144516303: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 rs771543750

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