Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1490299842

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:60871593 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/264690, TOPMED)
G=0.000007 (1/140252, GnomAD)
G=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RHOBTB1 : 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 T=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 T=1.000 G=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 T=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 496 T=1.000 G=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 G=0.000004
gnomAD - Genomes Global Study-wide 140252 T=0.999993 G=0.000007
gnomAD - Genomes European Sub 75950 T=0.99999 G=0.00001
gnomAD - Genomes African Sub 42032 T=1.00000 G=0.00000
gnomAD - Genomes American Sub 13658 T=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3134 T=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2154 T=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 14050 T=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2898 T=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 G=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 G=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 10 NC_000010.11:g.60871593T>G
GRCh37.p13 chr 10 NC_000010.10:g.62631351T>G
Gene: RHOBTB1, Rho related BTB domain containing 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RHOBTB1 transcript variant 1 NM_014836.5:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform 1 NP_055651.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant 10 NM_001350909.2:c.1620A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform 2 NP_001337838.1:p.Glu540Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant 9 NM_001350908.2:c.1620A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform 2 NP_001337837.1:p.Glu540Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant 7 NM_001350906.2:c.1620A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform 2 NP_001337835.1:p.Glu540Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant 2 NM_001350903.2:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform 1 NP_001337832.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant 11 NM_001350910.2:c.1620A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform 2 NP_001337839.1:p.Glu540Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant 6 NM_001350905.2:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform 1 NP_001337834.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant 4 NM_001242359.2:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform 1 NP_001229288.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant 8 NM_001350907.2:c.1620A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform 2 NP_001337836.1:p.Glu540Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant 12 NM_001350911.2:c.1620A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform 2 NP_001337840.1:p.Glu540Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant 3 NM_001350902.2:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform 1 NP_001337831.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant 5 NM_001350904.2:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform 1 NP_001337833.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X29 XM_017017002.3:c.*8= N/A 3 Prime UTR Variant
RHOBTB1 transcript variant X31 XM_047426096.1:c.*8= N/A 3 Prime UTR Variant
RHOBTB1 transcript variant X32 XM_047426097.1:c.*8= N/A 3 Prime UTR Variant
RHOBTB1 transcript variant X33 XM_047426098.1:c.*8= N/A 3 Prime UTR Variant
RHOBTB1 transcript variant X34 XM_047426099.1:c.*8= N/A 3 Prime UTR Variant
RHOBTB1 transcript variant X35 XM_011540425.2:c.*8= N/A 3 Prime UTR Variant
RHOBTB1 transcript variant X41 XM_011540428.2:c. N/A Genic Downstream Transcript Variant
RHOBTB1 transcript variant X38 XM_047426100.1:c. N/A Genic Downstream Transcript Variant
RHOBTB1 transcript variant X39 XM_047426102.1:c. N/A Genic Downstream Transcript Variant
RHOBTB1 transcript variant X40 XM_047426103.1:c. N/A Genic Downstream Transcript Variant
RHOBTB1 transcript variant X42 XM_047426104.1:c. N/A Genic Downstream Transcript Variant
RHOBTB1 transcript variant X43 XM_047426105.1:c. N/A Genic Downstream Transcript Variant
RHOBTB1 transcript variant X1 XM_017017000.3:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_016872489.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X2 XM_006718085.2:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_006718148.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X3 XM_024448271.2:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_024304039.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X4 XM_047426074.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282030.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X5 XM_024448270.2:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_024304038.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X6 XM_024448272.2:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_024304040.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X7 XM_047426075.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282031.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X8 XM_047426076.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282032.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X9 XM_047426077.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282033.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X10 XM_047426078.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282034.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X11 XM_024448273.2:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_024304041.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X12 XM_047426079.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282035.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X13 XM_047426080.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282036.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X14 XM_047426081.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282037.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X15 XM_047426082.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282038.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X16 XM_047426083.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282039.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X17 XM_047426084.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282040.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X18 XM_047426086.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282042.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X19 XM_047426087.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282043.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X20 XM_011540424.2:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_011538726.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X21 XM_047426088.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282044.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X22 XM_047426089.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282045.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X23 XM_047426090.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282046.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X24 XM_047426091.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282047.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X25 XM_047426092.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282048.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X26 XM_047426093.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282049.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X27 XM_047426094.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282050.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X28 XM_047426095.1:c.1980A>C E [GAA] > D [GAC] Coding Sequence Variant
rho-related BTB domain-containing protein 1 isoform X1 XP_047282051.1:p.Glu660Asp E (Glu) > D (Asp) Missense Variant
RHOBTB1 transcript variant X30 XR_007062020.1:n.2150A>C N/A Non Coding Transcript Variant
RHOBTB1 transcript variant X36 XR_007062021.1:n.2154A>C N/A Non Coding Transcript Variant
RHOBTB1 transcript variant X37 XR_007062022.1:n.2150A>C 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 T= G
GRCh38.p14 chr 10 NC_000010.11:g.60871593= NC_000010.11:g.60871593T>G
GRCh37.p13 chr 10 NC_000010.10:g.62631351= NC_000010.10:g.62631351T>G
RHOBTB1 transcript variant 1 NM_014836.5:c.1980= NM_014836.5:c.1980A>C
RHOBTB1 transcript variant 1 NM_014836.4:c.1980= NM_014836.4:c.1980A>C
RHOBTB1 transcript variant X1 XM_017017000.3:c.1980= XM_017017000.3:c.1980A>C
RHOBTB1 transcript variant X2 XM_017017000.2:c.1980= XM_017017000.2:c.1980A>C
RHOBTB1 transcript variant X2 XM_017017000.1:c.1980= XM_017017000.1:c.1980A>C
RHOBTB1 transcript variant X29 XM_017017002.3:c.*8= XM_017017002.3:c.*8A>C
RHOBTB1 transcript variant X11 XM_017017002.2:c.*8= XM_017017002.2:c.*8A>C
RHOBTB1 transcript variant X10 XM_017017002.1:c.*8= XM_017017002.1:c.*8A>C
RHOBTB1 transcript variant X11 XM_024448273.2:c.1980= XM_024448273.2:c.1980A>C
RHOBTB1 transcript variant X6 XM_024448273.1:c.1980= XM_024448273.1:c.1980A>C
RHOBTB1 transcript variant 4 NM_001242359.2:c.1980= NM_001242359.2:c.1980A>C
RHOBTB1 transcript variant 4 NM_001242359.1:c.1980= NM_001242359.1:c.1980A>C
RHOBTB1 transcript variant 7 NM_001350906.2:c.1620= NM_001350906.2:c.1620A>C
RHOBTB1 transcript variant 7 NM_001350906.1:c.1620= NM_001350906.1:c.1620A>C
RHOBTB1 transcript variant X5 XM_024448270.2:c.1980= XM_024448270.2:c.1980A>C
RHOBTB1 transcript variant X1 XM_024448270.1:c.1980= XM_024448270.1:c.1980A>C
RHOBTB1 transcript variant 9 NM_001350908.2:c.1620= NM_001350908.2:c.1620A>C
RHOBTB1 transcript variant 9 NM_001350908.1:c.1620= NM_001350908.1:c.1620A>C
RHOBTB1 transcript variant 8 NM_001350907.2:c.1620= NM_001350907.2:c.1620A>C
RHOBTB1 transcript variant 8 NM_001350907.1:c.1620= NM_001350907.1:c.1620A>C
RHOBTB1 transcript variant 2 NM_001350903.2:c.1980= NM_001350903.2:c.1980A>C
RHOBTB1 transcript variant 2 NM_001350903.1:c.1980= NM_001350903.1:c.1980A>C
RHOBTB1 transcript variant 2 NR_024554.2:n.2220= NR_024554.2:n.2220A>C
RHOBTB1 transcript variant 10 NM_001350909.2:c.1620= NM_001350909.2:c.1620A>C
RHOBTB1 transcript variant 10 NM_001350909.1:c.1620= NM_001350909.1:c.1620A>C
RHOBTB1 transcript variant X6 XM_024448272.2:c.1980= XM_024448272.2:c.1980A>C
RHOBTB1 transcript variant X4 XM_024448272.1:c.1980= XM_024448272.1:c.1980A>C
RHOBTB1 transcript variant X2 XM_006718085.2:c.1980= XM_006718085.2:c.1980A>C
RHOBTB1 transcript variant X5 XM_006718085.1:c.1980= XM_006718085.1:c.1980A>C
RHOBTB1 transcript variant 3 NM_001350902.2:c.1980= NM_001350902.2:c.1980A>C
RHOBTB1 transcript variant 3 NM_001350902.1:c.1980= NM_001350902.1:c.1980A>C
RHOBTB1 transcript variant 12 NM_001350911.2:c.1620= NM_001350911.2:c.1620A>C
RHOBTB1 transcript variant 12 NM_001350911.1:c.1620= NM_001350911.1:c.1620A>C
RHOBTB1 transcript variant 11 NM_001350910.2:c.1620= NM_001350910.2:c.1620A>C
RHOBTB1 transcript variant 11 NM_001350910.1:c.1620= NM_001350910.1:c.1620A>C
RHOBTB1 transcript variant 5 NM_001350904.2:c.1980= NM_001350904.2:c.1980A>C
RHOBTB1 transcript variant 5 NM_001350904.1:c.1980= NM_001350904.1:c.1980A>C
RHOBTB1 transcript variant X3 XM_024448271.2:c.1980= XM_024448271.2:c.1980A>C
RHOBTB1 transcript variant X3 XM_024448271.1:c.1980= XM_024448271.1:c.1980A>C
RHOBTB1 transcript variant 6 NM_001350905.2:c.1980= NM_001350905.2:c.1980A>C
RHOBTB1 transcript variant 6 NM_001350905.1:c.1980= NM_001350905.1:c.1980A>C
RHOBTB1 transcript variant X35 XM_011540425.2:c.*8= XM_011540425.2:c.*8A>C
RHOBTB1 transcript variant X9 XM_011540425.1:c.*8= XM_011540425.1:c.*8A>C
RHOBTB1 transcript variant X20 XM_011540424.2:c.1980= XM_011540424.2:c.1980A>C
RHOBTB1 transcript variant X7 XM_011540424.1:c.1980= XM_011540424.1:c.1980A>C
RHOBTB1 transcript variant X9 XM_047426077.1:c.1980= XM_047426077.1:c.1980A>C
RHOBTB1 transcript variant X16 XM_047426083.1:c.1980= XM_047426083.1:c.1980A>C
RHOBTB1 transcript variant X17 XM_047426084.1:c.1980= XM_047426084.1:c.1980A>C
RHOBTB1 transcript variant X23 XM_047426090.1:c.1980= XM_047426090.1:c.1980A>C
RHOBTB1 transcript variant X32 XM_047426097.1:c.*8= XM_047426097.1:c.*8A>C
RHOBTB1 transcript variant 4 NR_024556.1:n.2418= NR_024556.1:n.2418A>C
RHOBTB1 transcript variant X8 XM_047426076.1:c.1980= XM_047426076.1:c.1980A>C
RHOBTB1 transcript variant X10 XM_047426078.1:c.1980= XM_047426078.1:c.1980A>C
RHOBTB1 transcript variant X12 XM_047426079.1:c.1980= XM_047426079.1:c.1980A>C
RHOBTB1 transcript variant X7 XM_047426075.1:c.1980= XM_047426075.1:c.1980A>C
RHOBTB1 transcript variant X15 XM_047426082.1:c.1980= XM_047426082.1:c.1980A>C
RHOBTB1 transcript variant X18 XM_047426086.1:c.1980= XM_047426086.1:c.1980A>C
RHOBTB1 transcript variant X31 XM_047426096.1:c.*8= XM_047426096.1:c.*8A>C
RHOBTB1 transcript variant 2 NM_198225.1:c.1980= NM_198225.1:c.1980A>C
RHOBTB1 transcript variant X22 XM_047426089.1:c.1980= XM_047426089.1:c.1980A>C
RHOBTB1 transcript variant X4 XM_047426074.1:c.1980= XM_047426074.1:c.1980A>C
RHOBTB1 transcript variant X21 XM_047426088.1:c.1980= XM_047426088.1:c.1980A>C
RHOBTB1 transcript variant 3 NR_024555.1:n.2184= NR_024555.1:n.2184A>C
RHOBTB1 transcript variant 3 NM_001032380.1:c.1980= NM_001032380.1:c.1980A>C
RHOBTB1 transcript variant X26 XM_047426093.1:c.1980= XM_047426093.1:c.1980A>C
RHOBTB1 transcript variant X27 XM_047426094.1:c.1980= XM_047426094.1:c.1980A>C
RHOBTB1 transcript variant X24 XM_047426091.1:c.1980= XM_047426091.1:c.1980A>C
RHOBTB1 transcript variant X36 XR_007062021.1:n.2154= XR_007062021.1:n.2154A>C
RHOBTB1 transcript variant X30 XR_007062020.1:n.2150= XR_007062020.1:n.2150A>C
RHOBTB1 transcript variant X34 XM_047426099.1:c.*8= XM_047426099.1:c.*8A>C
RHOBTB1 transcript variant X25 XM_047426092.1:c.1980= XM_047426092.1:c.1980A>C
RHOBTB1 transcript variant X33 XM_047426098.1:c.*8= XM_047426098.1:c.*8A>C
RHOBTB1 transcript variant X19 XM_047426087.1:c.1980= XM_047426087.1:c.1980A>C
RHOBTB1 transcript variant X14 XM_047426081.1:c.1980= XM_047426081.1:c.1980A>C
RHOBTB1 transcript variant X37 XR_007062022.1:n.2150= XR_007062022.1:n.2150A>C
RHOBTB1 transcript variant X28 XM_047426095.1:c.1980= XM_047426095.1:c.1980A>C
RHOBTB1 transcript variant X13 XM_047426080.1:c.1980= XM_047426080.1:c.1980A>C
rho-related BTB domain-containing protein 1 isoform 1 NP_055651.1:p.Glu660= NP_055651.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_016872489.1:p.Glu660= XP_016872489.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_024304041.1:p.Glu660= XP_024304041.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform 1 NP_001229288.1:p.Glu660= NP_001229288.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform 2 NP_001337835.1:p.Glu540= NP_001337835.1:p.Glu540Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_024304038.1:p.Glu660= XP_024304038.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform 2 NP_001337837.1:p.Glu540= NP_001337837.1:p.Glu540Asp
rho-related BTB domain-containing protein 1 isoform 2 NP_001337836.1:p.Glu540= NP_001337836.1:p.Glu540Asp
rho-related BTB domain-containing protein 1 isoform 1 NP_001337832.1:p.Glu660= NP_001337832.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform 2 NP_001337838.1:p.Glu540= NP_001337838.1:p.Glu540Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_024304040.1:p.Glu660= XP_024304040.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_006718148.1:p.Glu660= XP_006718148.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform 1 NP_001337831.1:p.Glu660= NP_001337831.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform 2 NP_001337840.1:p.Glu540= NP_001337840.1:p.Glu540Asp
rho-related BTB domain-containing protein 1 isoform 2 NP_001337839.1:p.Glu540= NP_001337839.1:p.Glu540Asp
rho-related BTB domain-containing protein 1 isoform 1 NP_001337833.1:p.Glu660= NP_001337833.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_024304039.1:p.Glu660= XP_024304039.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform 1 NP_001337834.1:p.Glu660= NP_001337834.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_011538726.1:p.Glu660= XP_011538726.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282033.1:p.Glu660= XP_047282033.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282039.1:p.Glu660= XP_047282039.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282040.1:p.Glu660= XP_047282040.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282046.1:p.Glu660= XP_047282046.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282032.1:p.Glu660= XP_047282032.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282034.1:p.Glu660= XP_047282034.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282035.1:p.Glu660= XP_047282035.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282031.1:p.Glu660= XP_047282031.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282038.1:p.Glu660= XP_047282038.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282042.1:p.Glu660= XP_047282042.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282045.1:p.Glu660= XP_047282045.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282030.1:p.Glu660= XP_047282030.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282044.1:p.Glu660= XP_047282044.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282049.1:p.Glu660= XP_047282049.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282050.1:p.Glu660= XP_047282050.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282047.1:p.Glu660= XP_047282047.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282048.1:p.Glu660= XP_047282048.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282043.1:p.Glu660= XP_047282043.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282037.1:p.Glu660= XP_047282037.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282051.1:p.Glu660= XP_047282051.1:p.Glu660Asp
rho-related BTB domain-containing protein 1 isoform X1 XP_047282036.1:p.Glu660= XP_047282036.1:p.Glu660Asp
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 ss4219541777 Apr 27, 2021 (155)
2 TOPMED ss4854430567 Apr 27, 2021 (155)
3 gnomAD - Genomes NC_000010.11 - 60871593 Apr 27, 2021 (155)
4 TopMed NC_000010.11 - 60871593 Apr 27, 2021 (155)
5 ALFA NC_000010.11 - 60871593 Apr 27, 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
353892097, 69976222, 6971653912, ss4219541777, ss4854430567 NC_000010.11:60871592:T:G NC_000010.11:60871592:T:G (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 rs1490299842

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