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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.

rs1486047077

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:113084011 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/251416, GnomAD_exome)
A=0.000007 (1/140240, GnomAD)
A=0.00007 (1/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MCF2L : 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 G=0.99993 A=0.00007 0.999858 0.0 0.000142 0
European Sub 9690 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 G=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 G=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 496 G=0.998 A=0.002 0.995968 0.0 0.004032 0


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 251416 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 135380 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 49008 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34566 G=0.99997 A=0.00003
gnomAD - Exomes African Sub 16256 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10072 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6134 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140240 G=0.999993 A=0.000007
gnomAD - Genomes European Sub 75946 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 42028 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13660 G=0.99993 A=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 14050 G=0.99993 A=0.00007
Allele Frequency Aggregator European Sub 9690 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 496 G=0.998 A=0.002
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=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 13 NC_000013.11:g.113084011G>A
GRCh37.p13 chr 13 NC_000013.10:g.113738325G>A
Gene: MCF2L, MCF.2 cell line derived transforming sequence like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MCF2L transcript variant 2 NM_024979.4:c.1999G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform b NP_079255.4:p.Glu667Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant 1 NM_001112732.3:c.2005G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform a NP_001106203.2:p.Glu669Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant 5 NM_001320817.2:c.1999G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform e NP_001307746.1:p.Glu667Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant 3 NM_001320815.2:c.1999G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform c NP_001307744.1:p.Glu667Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant 6 NM_001366644.2:c.1918G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform f NP_001353573.1:p.Glu640Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant 7 NM_001366645.2:c.1891G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform g NP_001353574.1:p.Glu631Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant 8 NM_001366646.2:c.1891G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform h NP_001353575.1:p.Glu631Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant 4 NM_001320816.2:c.2017G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform d NP_001307745.1:p.Glu673Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X1 XM_011537486.3:c.2104G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X1 XP_011535788.3:p.Glu702Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X2 XM_011537482.2:c.2095G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X2 XP_011535784.1:p.Glu699Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X3 XM_011537483.3:c.2095G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X2 XP_011535785.1:p.Glu699Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X4 XM_017020493.2:c.2104G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X3 XP_016875982.2:p.Glu702Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X5 XM_017020494.2:c.2023G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X4 XP_016875983.1:p.Glu675Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X6 XM_011537484.2:c.2017G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X5 XP_011535786.1:p.Glu673Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X7 XM_017020495.2:c.2104G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X6 XP_016875984.2:p.Glu702Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X8 XM_011537485.2:c.2005G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X7 XP_011535787.1:p.Glu669Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X9 XM_047430220.1:c.2095G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X8 XP_047286176.1:p.Glu699Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X10 XM_011537487.2:c.1999G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X9 XP_011535789.1:p.Glu667Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X11 XM_011537488.2:c.1951G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X10 XP_011535790.1:p.Glu651Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X12 XM_047430221.1:c.2095G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X11 XP_047286177.1:p.Glu699Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X13 XM_047430222.1:c.2095G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X11 XP_047286178.1:p.Glu699Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X14 XM_011537490.2:c.1918G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X12 XP_011535792.1:p.Glu640Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X15 XM_011537491.2:c.1891G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X13 XP_011535793.1:p.Glu631Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X16 XM_047430223.1:c.2005G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X14 XP_047286179.1:p.Glu669Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X17 XM_047430224.1:c.2023G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X15 XP_047286180.1:p.Glu675Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X18 XM_047430225.1:c.1939G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X16 XP_047286181.1:p.Glu647Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X19 XM_017020499.3:c.2104G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X17 XP_016875988.2:p.Glu702Lys E (Glu) > K (Lys) Missense Variant
MCF2L transcript variant X20 XM_047430226.1:c.2095G>A E [GAG] > K [AAG] Coding Sequence Variant
guanine nucleotide exchange factor DBS isoform X18 XP_047286182.1:p.Glu699Lys E (Glu) > K (Lys) 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
GRCh38.p14 chr 13 NC_000013.11:g.113084011= NC_000013.11:g.113084011G>A
GRCh37.p13 chr 13 NC_000013.10:g.113738325= NC_000013.10:g.113738325G>A
MCF2L transcript variant 2 NM_024979.4:c.1999= NM_024979.4:c.1999G>A
MCF2L transcript variant X3 XM_011537483.3:c.2095= XM_011537483.3:c.2095G>A
MCF2L transcript variant X3 XM_011537483.2:c.2095= XM_011537483.2:c.2095G>A
MCF2L transcript variant X2 XM_011537483.1:c.2095= XM_011537483.1:c.2095G>A
MCF2L transcript variant X1 XM_011537486.3:c.2104= XM_011537486.3:c.2104G>A
MCF2L transcript variant X1 XM_011537486.2:c.2176= XM_011537486.2:c.2176G>A
MCF2L transcript variant X6 XM_011537486.1:c.2002= XM_011537486.1:c.2002G>A
MCF2L transcript variant 1 NM_001112732.3:c.2005= NM_001112732.3:c.2005G>A
MCF2L transcript variant 1 NM_001112732.2:c.2005= NM_001112732.2:c.2005G>A
MCF2L transcript variant X19 XM_017020499.3:c.2104= XM_017020499.3:c.2104G>A
MCF2L transcript variant X16 XM_017020499.2:c.2176= XM_017020499.2:c.2176G>A
MCF2L transcript variant X16 XM_017020499.1:c.2176= XM_017020499.1:c.2176G>A
MCF2L transcript variant X5 XM_017020494.2:c.2023= XM_017020494.2:c.2023G>A
MCF2L transcript variant X5 XM_017020494.1:c.2023= XM_017020494.1:c.2023G>A
MCF2L transcript variant X14 XM_011537490.2:c.1918= XM_011537490.2:c.1918G>A
MCF2L transcript variant X11 XM_011537490.1:c.1918= XM_011537490.1:c.1918G>A
MCF2L transcript variant 6 NM_001366644.2:c.1918= NM_001366644.2:c.1918G>A
MCF2L transcript variant 6 NM_001366644.1:c.1918= NM_001366644.1:c.1918G>A
MCF2L transcript variant X6 XM_011537484.2:c.2017= XM_011537484.2:c.2017G>A
MCF2L transcript variant X6 XM_011537484.1:c.2017= XM_011537484.1:c.2017G>A
MCF2L transcript variant X10 XM_011537487.2:c.1999= XM_011537487.2:c.1999G>A
MCF2L transcript variant X9 XM_011537487.1:c.1999= XM_011537487.1:c.1999G>A
MCF2L transcript variant X2 XM_011537482.2:c.2095= XM_011537482.2:c.2095G>A
MCF2L transcript variant X2 XM_011537482.1:c.2095= XM_011537482.1:c.2095G>A
MCF2L transcript variant X8 XM_011537485.2:c.2005= XM_011537485.2:c.2005G>A
MCF2L transcript variant X8 XM_011537485.1:c.2005= XM_011537485.1:c.2005G>A
MCF2L transcript variant 4 NM_001320816.2:c.2017= NM_001320816.2:c.2017G>A
MCF2L transcript variant 4 NM_001320816.1:c.2017= NM_001320816.1:c.2017G>A
MCF2L transcript variant 3 NM_001320815.2:c.1999= NM_001320815.2:c.1999G>A
MCF2L transcript variant 3 NM_001320815.1:c.1999= NM_001320815.1:c.1999G>A
MCF2L transcript variant X4 XM_017020493.2:c.2104= XM_017020493.2:c.2104G>A
MCF2L transcript variant X4 XM_017020493.1:c.2176= XM_017020493.1:c.2176G>A
MCF2L transcript variant X11 XM_011537488.2:c.1951= XM_011537488.2:c.1951G>A
MCF2L transcript variant X10 XM_011537488.1:c.1951= XM_011537488.1:c.1951G>A
MCF2L transcript variant X7 XM_017020495.2:c.2104= XM_017020495.2:c.2104G>A
MCF2L transcript variant X7 XM_017020495.1:c.2176= XM_017020495.1:c.2176G>A
MCF2L transcript variant X15 XM_011537491.2:c.1891= XM_011537491.2:c.1891G>A
MCF2L transcript variant X12 XM_011537491.1:c.1891= XM_011537491.1:c.1891G>A
MCF2L transcript variant 7 NM_001366645.2:c.1891= NM_001366645.2:c.1891G>A
MCF2L transcript variant 7 NM_001366645.1:c.1891= NM_001366645.1:c.1891G>A
MCF2L transcript variant 8 NM_001366646.2:c.1891= NM_001366646.2:c.1891G>A
MCF2L transcript variant 8 NM_001366646.1:c.1891= NM_001366646.1:c.1891G>A
MCF2L transcript variant 5 NM_001320817.2:c.1999= NM_001320817.2:c.1999G>A
MCF2L transcript variant 5 NM_001320817.1:c.1999= NM_001320817.1:c.1999G>A
MCF2L transcript variant X18 XM_047430225.1:c.1939= XM_047430225.1:c.1939G>A
MCF2L transcript variant X17 XM_047430224.1:c.2023= XM_047430224.1:c.2023G>A
MCF2L transcript variant X9 XM_047430220.1:c.2095= XM_047430220.1:c.2095G>A
MCF2L transcript variant X13 XM_047430222.1:c.2095= XM_047430222.1:c.2095G>A
MCF2L transcript variant X16 XM_047430223.1:c.2005= XM_047430223.1:c.2005G>A
MCF2L transcript variant X12 XM_047430221.1:c.2095= XM_047430221.1:c.2095G>A
MCF2L transcript variant X20 XM_047430226.1:c.2095= XM_047430226.1:c.2095G>A
guanine nucleotide exchange factor DBS isoform b NP_079255.4:p.Glu667= NP_079255.4:p.Glu667Lys
guanine nucleotide exchange factor DBS isoform X2 XP_011535785.1:p.Glu699= XP_011535785.1:p.Glu699Lys
guanine nucleotide exchange factor DBS isoform X1 XP_011535788.3:p.Glu702= XP_011535788.3:p.Glu702Lys
guanine nucleotide exchange factor DBS isoform a NP_001106203.2:p.Glu669= NP_001106203.2:p.Glu669Lys
guanine nucleotide exchange factor DBS isoform X17 XP_016875988.2:p.Glu702= XP_016875988.2:p.Glu702Lys
guanine nucleotide exchange factor DBS isoform X4 XP_016875983.1:p.Glu675= XP_016875983.1:p.Glu675Lys
guanine nucleotide exchange factor DBS isoform X12 XP_011535792.1:p.Glu640= XP_011535792.1:p.Glu640Lys
guanine nucleotide exchange factor DBS isoform f NP_001353573.1:p.Glu640= NP_001353573.1:p.Glu640Lys
guanine nucleotide exchange factor DBS isoform X5 XP_011535786.1:p.Glu673= XP_011535786.1:p.Glu673Lys
guanine nucleotide exchange factor DBS isoform X9 XP_011535789.1:p.Glu667= XP_011535789.1:p.Glu667Lys
guanine nucleotide exchange factor DBS isoform X2 XP_011535784.1:p.Glu699= XP_011535784.1:p.Glu699Lys
guanine nucleotide exchange factor DBS isoform X7 XP_011535787.1:p.Glu669= XP_011535787.1:p.Glu669Lys
guanine nucleotide exchange factor DBS isoform d NP_001307745.1:p.Glu673= NP_001307745.1:p.Glu673Lys
guanine nucleotide exchange factor DBS isoform c NP_001307744.1:p.Glu667= NP_001307744.1:p.Glu667Lys
guanine nucleotide exchange factor DBS isoform X3 XP_016875982.2:p.Glu702= XP_016875982.2:p.Glu702Lys
guanine nucleotide exchange factor DBS isoform X10 XP_011535790.1:p.Glu651= XP_011535790.1:p.Glu651Lys
guanine nucleotide exchange factor DBS isoform X6 XP_016875984.2:p.Glu702= XP_016875984.2:p.Glu702Lys
guanine nucleotide exchange factor DBS isoform X13 XP_011535793.1:p.Glu631= XP_011535793.1:p.Glu631Lys
guanine nucleotide exchange factor DBS isoform g NP_001353574.1:p.Glu631= NP_001353574.1:p.Glu631Lys
guanine nucleotide exchange factor DBS isoform h NP_001353575.1:p.Glu631= NP_001353575.1:p.Glu631Lys
guanine nucleotide exchange factor DBS isoform e NP_001307746.1:p.Glu667= NP_001307746.1:p.Glu667Lys
guanine nucleotide exchange factor DBS isoform X16 XP_047286181.1:p.Glu647= XP_047286181.1:p.Glu647Lys
guanine nucleotide exchange factor DBS isoform X15 XP_047286180.1:p.Glu675= XP_047286180.1:p.Glu675Lys
guanine nucleotide exchange factor DBS isoform X8 XP_047286176.1:p.Glu699= XP_047286176.1:p.Glu699Lys
guanine nucleotide exchange factor DBS isoform X11 XP_047286178.1:p.Glu699= XP_047286178.1:p.Glu699Lys
guanine nucleotide exchange factor DBS isoform X14 XP_047286179.1:p.Glu669= XP_047286179.1:p.Glu669Lys
guanine nucleotide exchange factor DBS isoform X11 XP_047286177.1:p.Glu699= XP_047286177.1:p.Glu699Lys
guanine nucleotide exchange factor DBS isoform X18 XP_047286182.1:p.Glu699= XP_047286182.1:p.Glu699Lys
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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2749080355 Nov 08, 2017 (151)
2 GNOMAD ss2924745443 Nov 08, 2017 (151)
3 gnomAD - Genomes NC_000013.11 - 113084011 Apr 26, 2021 (155)
4 gnomAD - Exomes NC_000013.10 - 113738325 Jul 13, 2019 (153)
5 ALFA NC_000013.11 - 113084011 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
9773984, ss2749080355, ss2924745443 NC_000013.10:113738324:G:A NC_000013.11:113084010:G:A (self)
443850032, 5497474021 NC_000013.11:113084010:G:A NC_000013.11:113084010:G:A (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 rs1486047077

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