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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.

rs1465636755

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:33375409 (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=0.000004 (1/251290, GnomAD_exome)
T=0.000007 (1/140224, GnomAD)
A=0.00000 (0/14050, ALFA) (+ 1 more)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FBXL2 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 C=1.00000 A=0.00000, T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A


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 251290 C=0.999996 T=0.000004
gnomAD - Exomes European Sub 135232 C=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 49006 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34586 C=0.99997 T=0.00003
gnomAD - Exomes African Sub 16256 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10074 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6136 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140224 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75936 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 42036 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13648 C=0.99993 T=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2150 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 14050 C=1.00000 A=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, T=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 3 NC_000003.12:g.33375409C>A
GRCh38.p14 chr 3 NC_000003.12:g.33375409C>T
GRCh37.p13 chr 3 NC_000003.11:g.33416901C>A
GRCh37.p13 chr 3 NC_000003.11:g.33416901C>T
Gene: FBXL2, F-box and leucine rich repeat protein 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FBXL2 transcript variant 1 NM_012157.5:c.779C>A P [CCG] > Q [CAG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 1 NP_036289.3:p.Pro260Gln P (Pro) > Q (Gln) Missense Variant
FBXL2 transcript variant 1 NM_012157.5:c.779C>T P [CCG] > L [CTG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 1 NP_036289.3:p.Pro260Leu P (Pro) > L (Leu) Missense Variant
FBXL2 transcript variant 9 NM_001349324.2:c.464C>A P [CCG] > Q [CAG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 6 NP_001336253.1:p.Pro155Gln P (Pro) > Q (Gln) Missense Variant
FBXL2 transcript variant 9 NM_001349324.2:c.464C>T P [CCG] > L [CTG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 6 NP_001336253.1:p.Pro155Leu P (Pro) > L (Leu) Missense Variant
FBXL2 transcript variant 3 NM_001349316.2:c.779C>A P [CCG] > Q [CAG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 3 NP_001336245.1:p.Pro260Gln P (Pro) > Q (Gln) Missense Variant
FBXL2 transcript variant 3 NM_001349316.2:c.779C>T P [CCG] > L [CTG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 3 NP_001336245.1:p.Pro260Leu P (Pro) > L (Leu) Missense Variant
FBXL2 transcript variant 6 NM_001349321.2:c.464C>A P [CCG] > Q [CAG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 4 NP_001336250.1:p.Pro155Gln P (Pro) > Q (Gln) Missense Variant
FBXL2 transcript variant 6 NM_001349321.2:c.464C>T P [CCG] > L [CTG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 4 NP_001336250.1:p.Pro155Leu P (Pro) > L (Leu) Missense Variant
FBXL2 transcript variant 7 NM_001349322.2:c.527C>A P [CCG] > Q [CAG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 5 precursor NP_001336251.1:p.Pro176Gln P (Pro) > Q (Gln) Missense Variant
FBXL2 transcript variant 7 NM_001349322.2:c.527C>T P [CCG] > L [CTG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 5 precursor NP_001336251.1:p.Pro176Leu P (Pro) > L (Leu) Missense Variant
FBXL2 transcript variant 5 NM_001349320.2:c.464C>A P [CCG] > Q [CAG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 4 NP_001336249.1:p.Pro155Gln P (Pro) > Q (Gln) Missense Variant
FBXL2 transcript variant 5 NM_001349320.2:c.464C>T P [CCG] > L [CTG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 4 NP_001336249.1:p.Pro155Leu P (Pro) > L (Leu) Missense Variant
FBXL2 transcript variant 11 NM_001349326.2:c.464C>A P [CCG] > Q [CAG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 6 NP_001336255.1:p.Pro155Gln P (Pro) > Q (Gln) Missense Variant
FBXL2 transcript variant 11 NM_001349326.2:c.464C>T P [CCG] > L [CTG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 6 NP_001336255.1:p.Pro155Leu P (Pro) > L (Leu) Missense Variant
FBXL2 transcript variant 10 NM_001349325.2:c.464C>A P [CCG] > Q [CAG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 6 NP_001336254.1:p.Pro155Gln P (Pro) > Q (Gln) Missense Variant
FBXL2 transcript variant 10 NM_001349325.2:c.464C>T P [CCG] > L [CTG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 6 NP_001336254.1:p.Pro155Leu P (Pro) > L (Leu) Missense Variant
FBXL2 transcript variant 4 NM_001349319.2:c.464C>A P [CCG] > Q [CAG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 4 NP_001336248.1:p.Pro155Gln P (Pro) > Q (Gln) Missense Variant
FBXL2 transcript variant 4 NM_001349319.2:c.464C>T P [CCG] > L [CTG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 4 NP_001336248.1:p.Pro155Leu P (Pro) > L (Leu) Missense Variant
FBXL2 transcript variant 8 NM_001349323.2:c.464C>A P [CCG] > Q [CAG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 6 NP_001336252.1:p.Pro155Gln P (Pro) > Q (Gln) Missense Variant
FBXL2 transcript variant 8 NM_001349323.2:c.464C>T P [CCG] > L [CTG] Coding Sequence Variant
F-box/LRR-repeat protein 2 isoform 6 NP_001336252.1:p.Pro155Leu P (Pro) > L (Leu) Missense Variant
FBXL2 transcript variant 26 NR_146135.2:n.937C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 26 NR_146135.2:n.937C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 22 NR_146131.2:n.944C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 22 NR_146131.2:n.944C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 23 NR_146132.2:n.850C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 23 NR_146132.2:n.850C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 25 NR_146134.2:n.944C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 25 NR_146134.2:n.944C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 14 NR_146123.2:n.944C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 14 NR_146123.2:n.944C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 24 NR_146133.2:n.900C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 24 NR_146133.2:n.900C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 21 NR_146130.2:n.1015C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 21 NR_146130.2:n.1015C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 17 NR_146126.2:n.928C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 17 NR_146126.2:n.928C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 16 NR_146125.2:n.944C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 16 NR_146125.2:n.944C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 13 NR_146122.2:n.942C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 13 NR_146122.2:n.942C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 12 NR_146121.2:n.848C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 12 NR_146121.2:n.848C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 19 NR_146128.2:n.625C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 19 NR_146128.2:n.625C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 15 NR_146124.2:n.869C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 15 NR_146124.2:n.869C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 18 NR_146127.2:n.850C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 18 NR_146127.2:n.850C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant 20 NR_146129.2:n.901C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant 20 NR_146129.2:n.901C>T N/A Non Coding Transcript Variant
FBXL2 transcript variant X1 XR_007095659.1:n.850C>A N/A Non Coding Transcript Variant
FBXL2 transcript variant X1 XR_007095659.1:n.850C>T 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.33375409= NC_000003.12:g.33375409C>A NC_000003.12:g.33375409C>T
GRCh37.p13 chr 3 NC_000003.11:g.33416901= NC_000003.11:g.33416901C>A NC_000003.11:g.33416901C>T
FBXL2 transcript variant 1 NM_012157.5:c.779= NM_012157.5:c.779C>A NM_012157.5:c.779C>T
FBXL2 transcript variant 1 NM_012157.4:c.779= NM_012157.4:c.779C>A NM_012157.4:c.779C>T
FBXL2 transcript variant 1 NM_012157.3:c.779= NM_012157.3:c.779C>A NM_012157.3:c.779C>T
FBXL2 transcript variant 21 NR_146130.2:n.1015= NR_146130.2:n.1015C>A NR_146130.2:n.1015C>T
FBXL2 transcript variant 21 NR_146130.1:n.1041= NR_146130.1:n.1041C>A NR_146130.1:n.1041C>T
FBXL2 transcript variant 6 NM_001349321.2:c.464= NM_001349321.2:c.464C>A NM_001349321.2:c.464C>T
FBXL2 transcript variant 6 NM_001349321.1:c.464= NM_001349321.1:c.464C>A NM_001349321.1:c.464C>T
FBXL2 transcript variant 11 NM_001349326.2:c.464= NM_001349326.2:c.464C>A NM_001349326.2:c.464C>T
FBXL2 transcript variant 11 NM_001349326.1:c.464= NM_001349326.1:c.464C>A NM_001349326.1:c.464C>T
FBXL2 transcript variant 25 NR_146134.2:n.944= NR_146134.2:n.944C>A NR_146134.2:n.944C>T
FBXL2 transcript variant 25 NR_146134.1:n.970= NR_146134.1:n.970C>A NR_146134.1:n.970C>T
FBXL2 transcript variant 10 NM_001349325.2:c.464= NM_001349325.2:c.464C>A NM_001349325.2:c.464C>T
FBXL2 transcript variant 10 NM_001349325.1:c.464= NM_001349325.1:c.464C>A NM_001349325.1:c.464C>T
FBXL2 transcript variant 5 NM_001349320.2:c.464= NM_001349320.2:c.464C>A NM_001349320.2:c.464C>T
FBXL2 transcript variant 5 NM_001349320.1:c.464= NM_001349320.1:c.464C>A NM_001349320.1:c.464C>T
FBXL2 transcript variant 4 NM_001349319.2:c.464= NM_001349319.2:c.464C>A NM_001349319.2:c.464C>T
FBXL2 transcript variant 4 NM_001349319.1:c.464= NM_001349319.1:c.464C>A NM_001349319.1:c.464C>T
FBXL2 transcript variant 22 NR_146131.2:n.944= NR_146131.2:n.944C>A NR_146131.2:n.944C>T
FBXL2 transcript variant 22 NR_146131.1:n.970= NR_146131.1:n.970C>A NR_146131.1:n.970C>T
FBXL2 transcript variant 3 NM_001349316.2:c.779= NM_001349316.2:c.779C>A NM_001349316.2:c.779C>T
FBXL2 transcript variant 3 NM_001349316.1:c.779= NM_001349316.1:c.779C>A NM_001349316.1:c.779C>T
FBXL2 transcript variant 13 NR_146122.2:n.942= NR_146122.2:n.942C>A NR_146122.2:n.942C>T
FBXL2 transcript variant 13 NR_146122.1:n.942= NR_146122.1:n.942C>A NR_146122.1:n.942C>T
FBXL2 transcript variant 26 NR_146135.2:n.937= NR_146135.2:n.937C>A NR_146135.2:n.937C>T
FBXL2 transcript variant 26 NR_146135.1:n.963= NR_146135.1:n.963C>A NR_146135.1:n.963C>T
FBXL2 transcript variant 17 NR_146126.2:n.928= NR_146126.2:n.928C>A NR_146126.2:n.928C>T
FBXL2 transcript variant 17 NR_146126.1:n.954= NR_146126.1:n.954C>A NR_146126.1:n.954C>T
FBXL2 transcript variant 24 NR_146133.2:n.900= NR_146133.2:n.900C>A NR_146133.2:n.900C>T
FBXL2 transcript variant 24 NR_146133.1:n.926= NR_146133.1:n.926C>A NR_146133.1:n.926C>T
FBXL2 transcript variant 9 NM_001349324.2:c.464= NM_001349324.2:c.464C>A NM_001349324.2:c.464C>T
FBXL2 transcript variant 9 NM_001349324.1:c.464= NM_001349324.1:c.464C>A NM_001349324.1:c.464C>T
FBXL2 transcript variant 8 NM_001349323.2:c.464= NM_001349323.2:c.464C>A NM_001349323.2:c.464C>T
FBXL2 transcript variant 8 NM_001349323.1:c.464= NM_001349323.1:c.464C>A NM_001349323.1:c.464C>T
FBXL2 transcript variant 12 NR_146121.2:n.848= NR_146121.2:n.848C>A NR_146121.2:n.848C>T
FBXL2 transcript variant 12 NR_146121.1:n.848= NR_146121.1:n.848C>A NR_146121.1:n.848C>T
FBXL2 transcript variant 7 NM_001349322.2:c.527= NM_001349322.2:c.527C>A NM_001349322.2:c.527C>T
FBXL2 transcript variant 7 NM_001349322.1:c.527= NM_001349322.1:c.527C>A NM_001349322.1:c.527C>T
FBXL2 transcript variant 2 NM_001171713.2:c.575= NM_001171713.2:c.575C>A NM_001171713.2:c.575C>T
FBXL2 transcript variant 14 NR_146123.2:n.944= NR_146123.2:n.944C>A NR_146123.2:n.944C>T
FBXL2 transcript variant 14 NR_146123.1:n.970= NR_146123.1:n.970C>A NR_146123.1:n.970C>T
FBXL2 transcript variant 23 NR_146132.2:n.850= NR_146132.2:n.850C>A NR_146132.2:n.850C>T
FBXL2 transcript variant 23 NR_146132.1:n.876= NR_146132.1:n.876C>A NR_146132.1:n.876C>T
FBXL2 transcript variant 15 NR_146124.2:n.869= NR_146124.2:n.869C>A NR_146124.2:n.869C>T
FBXL2 transcript variant 15 NR_146124.1:n.895= NR_146124.1:n.895C>A NR_146124.1:n.895C>T
FBXL2 transcript variant 16 NR_146125.2:n.944= NR_146125.2:n.944C>A NR_146125.2:n.944C>T
FBXL2 transcript variant 16 NR_146125.1:n.970= NR_146125.1:n.970C>A NR_146125.1:n.970C>T
FBXL2 transcript variant 20 NR_146129.2:n.901= NR_146129.2:n.901C>A NR_146129.2:n.901C>T
FBXL2 transcript variant 20 NR_146129.1:n.927= NR_146129.1:n.927C>A NR_146129.1:n.927C>T
FBXL2 transcript variant 18 NR_146127.2:n.850= NR_146127.2:n.850C>A NR_146127.2:n.850C>T
FBXL2 transcript variant 18 NR_146127.1:n.876= NR_146127.1:n.876C>A NR_146127.1:n.876C>T
FBXL2 transcript variant 19 NR_146128.2:n.625= NR_146128.2:n.625C>A NR_146128.2:n.625C>T
FBXL2 transcript variant 19 NR_146128.1:n.651= NR_146128.1:n.651C>A NR_146128.1:n.651C>T
FBXL2 transcript variant 2 NM_001171713.1:c.575= NM_001171713.1:c.575C>A NM_001171713.1:c.575C>T
FBXL2 transcript variant X1 XR_007095659.1:n.850= XR_007095659.1:n.850C>A XR_007095659.1:n.850C>T
F-box/LRR-repeat protein 2 isoform 1 NP_036289.3:p.Pro260= NP_036289.3:p.Pro260Gln NP_036289.3:p.Pro260Leu
F-box/LRR-repeat protein 2 isoform 4 NP_001336250.1:p.Pro155= NP_001336250.1:p.Pro155Gln NP_001336250.1:p.Pro155Leu
F-box/LRR-repeat protein 2 isoform 6 NP_001336255.1:p.Pro155= NP_001336255.1:p.Pro155Gln NP_001336255.1:p.Pro155Leu
F-box/LRR-repeat protein 2 isoform 6 NP_001336254.1:p.Pro155= NP_001336254.1:p.Pro155Gln NP_001336254.1:p.Pro155Leu
F-box/LRR-repeat protein 2 isoform 4 NP_001336249.1:p.Pro155= NP_001336249.1:p.Pro155Gln NP_001336249.1:p.Pro155Leu
F-box/LRR-repeat protein 2 isoform 4 NP_001336248.1:p.Pro155= NP_001336248.1:p.Pro155Gln NP_001336248.1:p.Pro155Leu
F-box/LRR-repeat protein 2 isoform 3 NP_001336245.1:p.Pro260= NP_001336245.1:p.Pro260Gln NP_001336245.1:p.Pro260Leu
F-box/LRR-repeat protein 2 isoform 6 NP_001336253.1:p.Pro155= NP_001336253.1:p.Pro155Gln NP_001336253.1:p.Pro155Leu
F-box/LRR-repeat protein 2 isoform 6 NP_001336252.1:p.Pro155= NP_001336252.1:p.Pro155Gln NP_001336252.1:p.Pro155Leu
F-box/LRR-repeat protein 2 isoform 5 precursor NP_001336251.1:p.Pro176= NP_001336251.1:p.Pro176Gln NP_001336251.1:p.Pro176Leu
F-box/LRR-repeat protein 2 isoform 2 NP_001165184.1:p.Pro192= NP_001165184.1:p.Pro192Gln NP_001165184.1:p.Pro192Leu
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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#.

4 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2733611646 Nov 08, 2017 (151)
2 GNOMAD ss4068677811 Apr 26, 2021 (155)
3 TOPMED ss4559912764 Apr 26, 2021 (155)
4 TOPMED ss4559912765 Apr 26, 2021 (155)
5 gnomAD - Genomes NC_000003.12 - 33375409 Apr 26, 2021 (155)
6 gnomAD - Exomes NC_000003.11 - 33416901 Jul 13, 2019 (153)
7 TopMed

Submission ignored due to conflicting rows:
Row 397290319 (NC_000003.12:33375408:C:A 1/264690)
Row 397290320 (NC_000003.12:33375408:C:T 2/264690)

- Apr 26, 2021 (155)
8 TopMed

Submission ignored due to conflicting rows:
Row 397290319 (NC_000003.12:33375408:C:A 1/264690)
Row 397290320 (NC_000003.12:33375408:C:T 2/264690)

- Apr 26, 2021 (155)
9 ALFA NC_000003.12 - 33375409 Apr 26, 2021 (155)
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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
7285821620, ss4559912764 NC_000003.12:33375408:C:A NC_000003.12:33375408:C:A (self)
2685278, ss2733611646 NC_000003.11:33416900:C:T NC_000003.12:33375408:C:T (self)
103800983, 7285821620, ss4068677811, ss4559912765 NC_000003.12:33375408:C:T NC_000003.12:33375408: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 rs1465636755

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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
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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