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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.

rs1406245464

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:40823745 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
C=0.000004 (1/249018, GnomAD_exome)
C=0.000007 (1/140286, GnomAD) (+ 1 more)
C=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
APBB2 : 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 10680 T=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 T=1.00 C=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 T=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 466 T=1.000 C=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
TopMed Global Study-wide 264690 T=0.999996 C=0.000004
gnomAD - Exomes Global Study-wide 249018 T=0.999996 C=0.000004
gnomAD - Exomes European Sub 134310 T=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 48580 T=1.00000 C=0.00000
gnomAD - Exomes American Sub 34516 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 15486 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10070 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6056 T=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140286 T=0.999993 C=0.000007
gnomAD - Genomes European Sub 75952 T=0.99999 C=0.00001
gnomAD - Genomes African Sub 42064 T=1.00000 C=0.00000
gnomAD - Genomes American Sub 13660 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3132 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 T=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 10680 T=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 6962 T=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2294 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 C=0.000
Allele Frequency Aggregator Other Sub 466 T=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 108 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 T=1.00 C=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 4 NC_000004.12:g.40823745T>C
GRCh37.p13 chr 4 NC_000004.11:g.40825762T>C
APBB2 RefSeqGene NG_013337.1:g.395874A>G
Gene: APBB2, amyloid beta precursor protein binding family B member 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
APBB2 transcript variant 6 NM_001166053.1:c.184A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform d NP_001159525.1:p.Asn62Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant 7 NM_001166054.1:c.184A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform d NP_001159526.1:p.Asn62Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant 1 NM_004307.2:c.1831A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform a NP_004298.1:p.Asn611Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant 2 NM_001166050.2:c.1828A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform b NP_001159522.1:p.Asn610Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant 8 NM_001330658.2:c.1765A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform e NP_001317587.1:p.Asn589Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant 4 NM_001166051.2:c.184A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform d NP_001159523.1:p.Asn62Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant 3 NM_173075.5:c.1762A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform c NP_775098.2:p.Asn588Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant 9 NM_001330656.2:c.1765A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform e NP_001317585.1:p.Asn589Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant 5 NM_001166052.2:c.184A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform d NP_001159524.1:p.Asn62Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X1 XM_006714005.5:c.1837A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X1 XP_006714068.1:p.Asn613Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X2 XM_006714008.5:c.1837A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X1 XP_006714071.1:p.Asn613Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X3 XM_047450159.1:c.1837A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306115.1:p.Asn613Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X4 XM_047450160.1:c.1837A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306116.1:p.Asn613Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X5 XM_047450161.1:c.1837A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306117.1:p.Asn613Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X6 XM_047450162.1:c.1837A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306118.1:p.Asn613Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X7 XM_047450163.1:c.1837A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306119.1:p.Asn613Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X8 XM_047450164.1:c.1837A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306120.1:p.Asn613Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X9 XM_047450165.1:c.1837A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306121.1:p.Asn613Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X10 XM_006714010.5:c.1834A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X2 XP_006714073.1:p.Asn612Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X11 XM_047450166.1:c.1834A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X2 XP_047306122.1:p.Asn612Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X12 XM_017008144.3:c.1834A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X2 XP_016863633.1:p.Asn612Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X13 XM_047450167.1:c.1834A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X2 XP_047306123.1:p.Asn612Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X14 XM_047450168.1:c.1834A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X2 XP_047306124.1:p.Asn612Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X15 XM_047450169.1:c.1834A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X2 XP_047306125.1:p.Asn612Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X16 XM_047450170.1:c.1834A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X2 XP_047306126.1:p.Asn612Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X17 XM_017008145.3:c.1831A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X3 XP_016863634.1:p.Asn611Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X18 XM_047450171.1:c.1831A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X3 XP_047306127.1:p.Asn611Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X19 XM_047450172.1:c.1831A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X3 XP_047306128.1:p.Asn611Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X20 XM_047450173.1:c.1831A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X3 XP_047306129.1:p.Asn611Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X21 XM_047450174.1:c.1831A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X3 XP_047306130.1:p.Asn611Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X22 XM_047450175.1:c.1831A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X3 XP_047306131.1:p.Asn611Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X23 XM_047450176.1:c.1831A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X3 XP_047306132.1:p.Asn611Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X24 XM_047450177.1:c.1828A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X4 XP_047306133.1:p.Asn610Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X25 XM_047450178.1:c.1828A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X4 XP_047306134.1:p.Asn610Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X26 XM_047450179.1:c.1828A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X4 XP_047306135.1:p.Asn610Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X27 XM_047450180.1:c.1828A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X4 XP_047306136.1:p.Asn610Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X28 XM_047450181.1:c.1828A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X4 XP_047306137.1:p.Asn610Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X29 XM_017008146.3:c.1786A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X5 XP_016863635.1:p.Asn596Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X30 XM_017008148.3:c.1786A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X5 XP_016863637.1:p.Asn596Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X31 XM_006714011.5:c.1774A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X6 XP_006714074.1:p.Asn592Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X32 XM_017008151.3:c.1774A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X6 XP_016863640.1:p.Asn592Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X33 XM_006714012.5:c.1771A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X7 XP_006714075.1:p.Asn591Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X34 XM_047450182.1:c.1771A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X7 XP_047306138.1:p.Asn591Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X35 XM_017008152.3:c.1771A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X7 XP_016863641.1:p.Asn591Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X36 XM_047450183.1:c.1771A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X7 XP_047306139.1:p.Asn591Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X37 XM_047450184.1:c.1771A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X7 XP_047306140.1:p.Asn591Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X38 XM_011513687.4:c.1768A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X8 XP_011511989.1:p.Asn590Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X39 XM_047450185.1:c.1768A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X8 XP_047306141.1:p.Asn590Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X40 XM_017008154.3:c.1768A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X8 XP_016863643.1:p.Asn590Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X41 XM_047450186.1:c.1768A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X8 XP_047306142.1:p.Asn590Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X42 XM_047450187.1:c.1768A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X8 XP_047306143.1:p.Asn590Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X43 XM_047450188.1:c.1768A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X8 XP_047306144.1:p.Asn590Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X44 XM_047450189.1:c.1765A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X9 XP_047306145.1:p.Asn589Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X45 XM_047450190.1:c.1765A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X9 XP_047306146.1:p.Asn589Asp N (Asn) > D (Asp) Missense Variant
APBB2 transcript variant X46 XM_047450191.1:c.1765A>G N [AAC] > D [GAC] Coding Sequence Variant
amyloid beta precursor protein binding family B member 2 isoform X9 XP_047306147.1:p.Asn589Asp N (Asn) > D (Asp) 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 T= C
GRCh38.p14 chr 4 NC_000004.12:g.40823745= NC_000004.12:g.40823745T>C
GRCh37.p13 chr 4 NC_000004.11:g.40825762= NC_000004.11:g.40825762T>C
APBB2 RefSeqGene NG_013337.1:g.395874= NG_013337.1:g.395874A>G
APBB2 transcript variant 3 NM_173075.5:c.1762= NM_173075.5:c.1762A>G
APBB2 transcript variant 3 NM_173075.4:c.1762= NM_173075.4:c.1762A>G
APBB2 transcript variant 1 NM_004307.2:c.1831= NM_004307.2:c.1831A>G
APBB2 transcript variant 1 NM_004307.1:c.1831= NM_004307.1:c.1831A>G
APBB2 transcript variant 2 NM_001166050.2:c.1828= NM_001166050.2:c.1828A>G
APBB2 transcript variant 2 NM_001166050.1:c.1828= NM_001166050.1:c.1828A>G
APBB2 transcript variant 9 NM_001330656.2:c.1765= NM_001330656.2:c.1765A>G
APBB2 transcript variant 9 NM_001330656.1:c.1765= NM_001330656.1:c.1765A>G
APBB2 transcript variant 8 NM_001330658.2:c.1765= NM_001330658.2:c.1765A>G
APBB2 transcript variant 8 NM_001330658.1:c.1765= NM_001330658.1:c.1765A>G
APBB2 transcript variant 4 NM_001166051.2:c.184= NM_001166051.2:c.184A>G
APBB2 transcript variant 4 NM_001166051.1:c.184= NM_001166051.1:c.184A>G
APBB2 transcript variant 5 NM_001166052.2:c.184= NM_001166052.2:c.184A>G
APBB2 transcript variant 5 NM_001166052.1:c.184= NM_001166052.1:c.184A>G
APBB2 transcript variant 6 NM_001166053.1:c.184= NM_001166053.1:c.184A>G
APBB2 transcript variant 7 NM_001166054.1:c.184= NM_001166054.1:c.184A>G
APBB2 transcript variant X1 XM_006714005.5:c.1837= XM_006714005.5:c.1837A>G
APBB2 transcript variant X1 XM_006714005.4:c.1837= XM_006714005.4:c.1837A>G
APBB2 transcript variant X1 XM_006714005.3:c.1837= XM_006714005.3:c.1837A>G
APBB2 transcript variant X1 XM_006714005.2:c.1837= XM_006714005.2:c.1837A>G
APBB2 transcript variant X9 XM_006714005.1:c.1837= XM_006714005.1:c.1837A>G
APBB2 transcript variant X10 XM_006714010.5:c.1834= XM_006714010.5:c.1834A>G
APBB2 transcript variant X6 XM_006714010.4:c.1834= XM_006714010.4:c.1834A>G
APBB2 transcript variant X7 XM_006714010.3:c.1834= XM_006714010.3:c.1834A>G
APBB2 transcript variant X7 XM_006714010.2:c.1834= XM_006714010.2:c.1834A>G
APBB2 transcript variant X14 XM_006714010.1:c.1834= XM_006714010.1:c.1834A>G
APBB2 transcript variant X31 XM_006714011.5:c.1774= XM_006714011.5:c.1774A>G
APBB2 transcript variant X14 XM_006714011.4:c.1774= XM_006714011.4:c.1774A>G
APBB2 transcript variant X15 XM_006714011.3:c.1774= XM_006714011.3:c.1774A>G
APBB2 transcript variant X8 XM_006714011.2:c.1774= XM_006714011.2:c.1774A>G
APBB2 transcript variant X15 XM_006714011.1:c.1774= XM_006714011.1:c.1774A>G
APBB2 transcript variant X33 XM_006714012.5:c.1771= XM_006714012.5:c.1771A>G
APBB2 transcript variant X16 XM_006714012.4:c.1771= XM_006714012.4:c.1771A>G
APBB2 transcript variant X18 XM_006714012.3:c.1771= XM_006714012.3:c.1771A>G
APBB2 transcript variant X9 XM_006714012.2:c.1771= XM_006714012.2:c.1771A>G
APBB2 transcript variant X16 XM_006714012.1:c.1771= XM_006714012.1:c.1771A>G
APBB2 transcript variant X2 XM_006714008.5:c.1837= XM_006714008.5:c.1837A>G
APBB2 transcript variant X4 XM_006714008.4:c.1837= XM_006714008.4:c.1837A>G
APBB2 transcript variant X5 XM_006714008.3:c.1837= XM_006714008.3:c.1837A>G
APBB2 transcript variant X5 XM_006714008.2:c.1837= XM_006714008.2:c.1837A>G
APBB2 transcript variant X12 XM_006714008.1:c.1837= XM_006714008.1:c.1837A>G
APBB2 transcript variant X38 XM_011513687.4:c.1768= XM_011513687.4:c.1768A>G
APBB2 transcript variant X18 XM_011513687.3:c.1768= XM_011513687.3:c.1768A>G
APBB2 transcript variant X20 XM_011513687.2:c.1768= XM_011513687.2:c.1768A>G
APBB2 transcript variant X10 XM_011513687.1:c.1768= XM_011513687.1:c.1768A>G
APBB2 transcript variant X29 XM_017008146.3:c.1786= XM_017008146.3:c.1786A>G
APBB2 transcript variant X10 XM_017008146.2:c.1786= XM_017008146.2:c.1786A>G
APBB2 transcript variant X11 XM_017008146.1:c.1786= XM_017008146.1:c.1786A>G
APBB2 transcript variant X12 XM_017008144.3:c.1834= XM_017008144.3:c.1834A>G
APBB2 transcript variant X8 XM_017008144.2:c.1834= XM_017008144.2:c.1834A>G
APBB2 transcript variant X9 XM_017008144.1:c.1834= XM_017008144.1:c.1834A>G
APBB2 transcript variant X17 XM_017008145.3:c.1831= XM_017008145.3:c.1831A>G
APBB2 transcript variant X9 XM_017008145.2:c.1831= XM_017008145.2:c.1831A>G
APBB2 transcript variant X10 XM_017008145.1:c.1831= XM_017008145.1:c.1831A>G
APBB2 transcript variant X32 XM_017008151.3:c.1774= XM_017008151.3:c.1774A>G
APBB2 transcript variant X15 XM_017008151.2:c.1774= XM_017008151.2:c.1774A>G
APBB2 transcript variant X17 XM_017008151.1:c.1774= XM_017008151.1:c.1774A>G
APBB2 transcript variant X35 XM_017008152.3:c.1771= XM_017008152.3:c.1771A>G
APBB2 transcript variant X17 XM_017008152.2:c.1771= XM_017008152.2:c.1771A>G
APBB2 transcript variant X19 XM_017008152.1:c.1771= XM_017008152.1:c.1771A>G
APBB2 transcript variant X40 XM_017008154.3:c.1768= XM_017008154.3:c.1768A>G
APBB2 transcript variant X19 XM_017008154.2:c.1768= XM_017008154.2:c.1768A>G
APBB2 transcript variant X22 XM_017008154.1:c.1768= XM_017008154.1:c.1768A>G
APBB2 transcript variant X30 XM_017008148.3:c.1786= XM_017008148.3:c.1786A>G
APBB2 transcript variant X12 XM_017008148.2:c.1786= XM_017008148.2:c.1786A>G
APBB2 transcript variant X13 XM_017008148.1:c.1786= XM_017008148.1:c.1786A>G
APBB2 transcript variant X4 XM_047450160.1:c.1837= XM_047450160.1:c.1837A>G
APBB2 transcript variant X13 XM_047450167.1:c.1834= XM_047450167.1:c.1834A>G
APBB2 transcript variant X18 XM_047450171.1:c.1831= XM_047450171.1:c.1831A>G
APBB2 transcript variant X24 XM_047450177.1:c.1828= XM_047450177.1:c.1828A>G
APBB2 transcript variant X34 XM_047450182.1:c.1771= XM_047450182.1:c.1771A>G
APBB2 transcript variant X39 XM_047450185.1:c.1768= XM_047450185.1:c.1768A>G
APBB2 transcript variant X44 XM_047450189.1:c.1765= XM_047450189.1:c.1765A>G
APBB2 transcript variant X6 XM_047450162.1:c.1837= XM_047450162.1:c.1837A>G
APBB2 transcript variant X14 XM_047450168.1:c.1834= XM_047450168.1:c.1834A>G
APBB2 transcript variant X21 XM_047450174.1:c.1831= XM_047450174.1:c.1831A>G
APBB2 transcript variant X7 XM_047450163.1:c.1837= XM_047450163.1:c.1837A>G
APBB2 transcript variant X25 XM_047450178.1:c.1828= XM_047450178.1:c.1828A>G
APBB2 transcript variant X3 XM_047450159.1:c.1837= XM_047450159.1:c.1837A>G
APBB2 transcript variant X16 XM_047450170.1:c.1834= XM_047450170.1:c.1834A>G
APBB2 transcript variant X19 XM_047450172.1:c.1831= XM_047450172.1:c.1831A>G
APBB2 transcript variant X26 XM_047450179.1:c.1828= XM_047450179.1:c.1828A>G
APBB2 transcript variant X5 XM_047450161.1:c.1837= XM_047450161.1:c.1837A>G
APBB2 transcript variant X11 XM_047450166.1:c.1834= XM_047450166.1:c.1834A>G
APBB2 transcript variant X20 XM_047450173.1:c.1831= XM_047450173.1:c.1831A>G
APBB2 transcript variant X27 XM_047450180.1:c.1828= XM_047450180.1:c.1828A>G
APBB2 transcript variant X36 XM_047450183.1:c.1771= XM_047450183.1:c.1771A>G
APBB2 transcript variant X37 XM_047450184.1:c.1771= XM_047450184.1:c.1771A>G
APBB2 transcript variant X41 XM_047450186.1:c.1768= XM_047450186.1:c.1768A>G
APBB2 transcript variant X45 XM_047450190.1:c.1765= XM_047450190.1:c.1765A>G
APBB2 transcript variant X8 XM_047450164.1:c.1837= XM_047450164.1:c.1837A>G
APBB2 transcript variant X15 XM_047450169.1:c.1834= XM_047450169.1:c.1834A>G
APBB2 transcript variant X22 XM_047450175.1:c.1831= XM_047450175.1:c.1831A>G
APBB2 transcript variant X28 XM_047450181.1:c.1828= XM_047450181.1:c.1828A>G
APBB2 transcript variant X42 XM_047450187.1:c.1768= XM_047450187.1:c.1768A>G
APBB2 transcript variant X46 XM_047450191.1:c.1765= XM_047450191.1:c.1765A>G
APBB2 transcript variant X9 XM_047450165.1:c.1837= XM_047450165.1:c.1837A>G
APBB2 transcript variant X23 XM_047450176.1:c.1831= XM_047450176.1:c.1831A>G
APBB2 transcript variant X43 XM_047450188.1:c.1768= XM_047450188.1:c.1768A>G
amyloid beta precursor protein binding family B member 2 isoform c NP_775098.2:p.Asn588= NP_775098.2:p.Asn588Asp
amyloid beta precursor protein binding family B member 2 isoform a NP_004298.1:p.Asn611= NP_004298.1:p.Asn611Asp
amyloid beta precursor protein binding family B member 2 isoform b NP_001159522.1:p.Asn610= NP_001159522.1:p.Asn610Asp
amyloid beta precursor protein binding family B member 2 isoform e NP_001317585.1:p.Asn589= NP_001317585.1:p.Asn589Asp
amyloid beta precursor protein binding family B member 2 isoform e NP_001317587.1:p.Asn589= NP_001317587.1:p.Asn589Asp
amyloid beta precursor protein binding family B member 2 isoform d NP_001159523.1:p.Asn62= NP_001159523.1:p.Asn62Asp
amyloid beta precursor protein binding family B member 2 isoform d NP_001159524.1:p.Asn62= NP_001159524.1:p.Asn62Asp
amyloid beta precursor protein binding family B member 2 isoform d NP_001159525.1:p.Asn62= NP_001159525.1:p.Asn62Asp
amyloid beta precursor protein binding family B member 2 isoform d NP_001159526.1:p.Asn62= NP_001159526.1:p.Asn62Asp
amyloid beta precursor protein binding family B member 2 isoform X1 XP_006714068.1:p.Asn613= XP_006714068.1:p.Asn613Asp
amyloid beta precursor protein binding family B member 2 isoform X2 XP_006714073.1:p.Asn612= XP_006714073.1:p.Asn612Asp
amyloid beta precursor protein binding family B member 2 isoform X6 XP_006714074.1:p.Asn592= XP_006714074.1:p.Asn592Asp
amyloid beta precursor protein binding family B member 2 isoform X7 XP_006714075.1:p.Asn591= XP_006714075.1:p.Asn591Asp
amyloid beta precursor protein binding family B member 2 isoform X1 XP_006714071.1:p.Asn613= XP_006714071.1:p.Asn613Asp
amyloid beta precursor protein binding family B member 2 isoform X8 XP_011511989.1:p.Asn590= XP_011511989.1:p.Asn590Asp
amyloid beta precursor protein binding family B member 2 isoform X5 XP_016863635.1:p.Asn596= XP_016863635.1:p.Asn596Asp
amyloid beta precursor protein binding family B member 2 isoform X2 XP_016863633.1:p.Asn612= XP_016863633.1:p.Asn612Asp
amyloid beta precursor protein binding family B member 2 isoform X3 XP_016863634.1:p.Asn611= XP_016863634.1:p.Asn611Asp
amyloid beta precursor protein binding family B member 2 isoform X6 XP_016863640.1:p.Asn592= XP_016863640.1:p.Asn592Asp
amyloid beta precursor protein binding family B member 2 isoform X7 XP_016863641.1:p.Asn591= XP_016863641.1:p.Asn591Asp
amyloid beta precursor protein binding family B member 2 isoform X8 XP_016863643.1:p.Asn590= XP_016863643.1:p.Asn590Asp
amyloid beta precursor protein binding family B member 2 isoform X5 XP_016863637.1:p.Asn596= XP_016863637.1:p.Asn596Asp
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306116.1:p.Asn613= XP_047306116.1:p.Asn613Asp
amyloid beta precursor protein binding family B member 2 isoform X2 XP_047306123.1:p.Asn612= XP_047306123.1:p.Asn612Asp
amyloid beta precursor protein binding family B member 2 isoform X3 XP_047306127.1:p.Asn611= XP_047306127.1:p.Asn611Asp
amyloid beta precursor protein binding family B member 2 isoform X4 XP_047306133.1:p.Asn610= XP_047306133.1:p.Asn610Asp
amyloid beta precursor protein binding family B member 2 isoform X7 XP_047306138.1:p.Asn591= XP_047306138.1:p.Asn591Asp
amyloid beta precursor protein binding family B member 2 isoform X8 XP_047306141.1:p.Asn590= XP_047306141.1:p.Asn590Asp
amyloid beta precursor protein binding family B member 2 isoform X9 XP_047306145.1:p.Asn589= XP_047306145.1:p.Asn589Asp
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306118.1:p.Asn613= XP_047306118.1:p.Asn613Asp
amyloid beta precursor protein binding family B member 2 isoform X2 XP_047306124.1:p.Asn612= XP_047306124.1:p.Asn612Asp
amyloid beta precursor protein binding family B member 2 isoform X3 XP_047306130.1:p.Asn611= XP_047306130.1:p.Asn611Asp
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306119.1:p.Asn613= XP_047306119.1:p.Asn613Asp
amyloid beta precursor protein binding family B member 2 isoform X4 XP_047306134.1:p.Asn610= XP_047306134.1:p.Asn610Asp
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306115.1:p.Asn613= XP_047306115.1:p.Asn613Asp
amyloid beta precursor protein binding family B member 2 isoform X2 XP_047306126.1:p.Asn612= XP_047306126.1:p.Asn612Asp
amyloid beta precursor protein binding family B member 2 isoform X3 XP_047306128.1:p.Asn611= XP_047306128.1:p.Asn611Asp
amyloid beta precursor protein binding family B member 2 isoform X4 XP_047306135.1:p.Asn610= XP_047306135.1:p.Asn610Asp
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306117.1:p.Asn613= XP_047306117.1:p.Asn613Asp
amyloid beta precursor protein binding family B member 2 isoform X2 XP_047306122.1:p.Asn612= XP_047306122.1:p.Asn612Asp
amyloid beta precursor protein binding family B member 2 isoform X3 XP_047306129.1:p.Asn611= XP_047306129.1:p.Asn611Asp
amyloid beta precursor protein binding family B member 2 isoform X4 XP_047306136.1:p.Asn610= XP_047306136.1:p.Asn610Asp
amyloid beta precursor protein binding family B member 2 isoform X7 XP_047306139.1:p.Asn591= XP_047306139.1:p.Asn591Asp
amyloid beta precursor protein binding family B member 2 isoform X7 XP_047306140.1:p.Asn591= XP_047306140.1:p.Asn591Asp
amyloid beta precursor protein binding family B member 2 isoform X8 XP_047306142.1:p.Asn590= XP_047306142.1:p.Asn590Asp
amyloid beta precursor protein binding family B member 2 isoform X9 XP_047306146.1:p.Asn589= XP_047306146.1:p.Asn589Asp
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306120.1:p.Asn613= XP_047306120.1:p.Asn613Asp
amyloid beta precursor protein binding family B member 2 isoform X2 XP_047306125.1:p.Asn612= XP_047306125.1:p.Asn612Asp
amyloid beta precursor protein binding family B member 2 isoform X3 XP_047306131.1:p.Asn611= XP_047306131.1:p.Asn611Asp
amyloid beta precursor protein binding family B member 2 isoform X4 XP_047306137.1:p.Asn610= XP_047306137.1:p.Asn610Asp
amyloid beta precursor protein binding family B member 2 isoform X8 XP_047306143.1:p.Asn590= XP_047306143.1:p.Asn590Asp
amyloid beta precursor protein binding family B member 2 isoform X9 XP_047306147.1:p.Asn589= XP_047306147.1:p.Asn589Asp
amyloid beta precursor protein binding family B member 2 isoform X1 XP_047306121.1:p.Asn613= XP_047306121.1:p.Asn613Asp
amyloid beta precursor protein binding family B member 2 isoform X3 XP_047306132.1:p.Asn611= XP_047306132.1:p.Asn611Asp
amyloid beta precursor protein binding family B member 2 isoform X8 XP_047306144.1:p.Asn590= XP_047306144.1:p.Asn590Asp
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 ss2734477060 Nov 08, 2017 (151)
2 GNOMAD ss4094432034 Apr 26, 2021 (155)
3 TOPMED ss4610488256 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000004.12 - 40823745 Apr 26, 2021 (155)
5 gnomAD - Exomes NC_000004.11 - 40825762 Jul 13, 2019 (153)
6 TopMed NC_000004.12 - 40823745 Apr 26, 2021 (155)
7 ALFA NC_000004.12 - 40823745 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
3579124, ss2734477060 NC_000004.11:40825761:T:C NC_000004.12:40823744:T:C (self)
146708254, 447865812, 7053945240, ss4094432034, ss4610488256 NC_000004.12:40823744:T:C NC_000004.12:40823744:T:C (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 rs1406245464

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
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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