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.

rs1483252008

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:45829466 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/249114, GnomAD_exome)
A=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MAST2 : 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 G=1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 G=1.00 A=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 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 94 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 466 G=1.000 A=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 249114 G=0.999996 T=0.000004
gnomAD - Exomes European Sub 134528 G=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 48520 G=0.99998 T=0.00002
gnomAD - Exomes American Sub 34464 G=1.00000 T=0.00000
gnomAD - Exomes African Sub 15484 G=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10062 G=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6056 G=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 10680 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2294 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 466 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 94 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 1 NC_000001.11:g.45829466G>A
GRCh38.p14 chr 1 NC_000001.11:g.45829466G>T
GRCh37.p13 chr 1 NC_000001.10:g.46295138G>A
GRCh37.p13 chr 1 NC_000001.10:g.46295138G>T
Gene: MAST2, microtubule associated serine/threonine kinase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MAST2 transcript variant 4 NM_001324321.2:c. N/A Genic Upstream Transcript Variant
MAST2 transcript variant 1 NM_015112.3:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform 1 NP_055927.2:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant 1 NM_015112.3:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform 1 NP_055927.2:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant 3 NM_001324320.2:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform 3 NP_001311249.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant 3 NM_001324320.2:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform 3 NP_001311249.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant 2 NM_001319245.2:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform 2 NP_001306174.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant 2 NM_001319245.2:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform 2 NP_001306174.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X15 XM_005270655.4:c. N/A Genic Upstream Transcript Variant
MAST2 transcript variant X16 XM_005270656.6:c. N/A Genic Upstream Transcript Variant
MAST2 transcript variant X20 XM_006710477.4:c. N/A Genic Upstream Transcript Variant
MAST2 transcript variant X21 XM_011541067.3:c. N/A Genic Upstream Transcript Variant
MAST2 transcript variant X22 XM_011541068.2:c. N/A Genic Upstream Transcript Variant
MAST2 transcript variant X14 XM_017000752.2:c. N/A Genic Upstream Transcript Variant
MAST2 transcript variant X18 XM_017000753.2:c. N/A Genic Upstream Transcript Variant
MAST2 transcript variant X19 XM_017000755.2:c. N/A Genic Upstream Transcript Variant
MAST2 transcript variant X17 XM_047450130.1:c. N/A Genic Upstream Transcript Variant
MAST2 transcript variant X23 XM_047450138.1:c. N/A Genic Upstream Transcript Variant
MAST2 transcript variant X1 XM_011541059.3:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X1 XP_011539361.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X1 XM_011541059.3:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X1 XP_011539361.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X2 XM_011541061.3:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X2 XP_011539363.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X2 XM_011541061.3:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X2 XP_011539363.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X3 XM_011541062.3:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X3 XP_011539364.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X3 XM_011541062.3:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X3 XP_011539364.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X4 XM_047450096.1:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X4 XP_047306052.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X4 XM_047450096.1:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X4 XP_047306052.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X5 XM_011541063.2:c.203G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X5 XP_011539365.1:p.Ser68Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X5 XM_011541063.2:c.203G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X5 XP_011539365.1:p.Ser68Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X6 XM_011541064.3:c.194G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X6 XP_011539366.1:p.Ser65Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X6 XM_011541064.3:c.194G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X6 XP_011539366.1:p.Ser65Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X7 XM_047450105.1:c.194G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X7 XP_047306061.1:p.Ser65Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X7 XM_047450105.1:c.194G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X7 XP_047306061.1:p.Ser65Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X8 XM_047450111.1:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X8 XP_047306067.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X8 XM_047450111.1:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X8 XP_047306067.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X9 XM_047450116.1:c.203G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X9 XP_047306072.1:p.Ser68Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X9 XM_047450116.1:c.203G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X9 XP_047306072.1:p.Ser68Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X10 XM_047450121.1:c.194G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X10 XP_047306077.1:p.Ser65Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X10 XM_047450121.1:c.194G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X10 XP_047306077.1:p.Ser65Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X11 XM_047450122.1:c.203G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X11 XP_047306078.1:p.Ser68Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X11 XM_047450122.1:c.203G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X11 XP_047306078.1:p.Ser68Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X12 XM_047450123.1:c.194G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X12 XP_047306079.1:p.Ser65Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X12 XM_047450123.1:c.194G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X12 XP_047306079.1:p.Ser65Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X13 XM_047450129.1:c.194G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X13 XP_047306085.1:p.Ser65Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X13 XM_047450129.1:c.194G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X13 XP_047306085.1:p.Ser65Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X24 XM_011541069.3:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X24 XP_011539371.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X24 XM_011541069.3:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X24 XP_011539371.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X25 XM_047450141.1:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X25 XP_047306097.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X25 XM_047450141.1:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X25 XP_047306097.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X26 XM_047450142.1:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X26 XP_047306098.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X26 XM_047450142.1:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X26 XP_047306098.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X27 XM_047450145.1:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X27 XP_047306101.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X27 XM_047450145.1:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X27 XP_047306101.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X28 XM_047450149.1:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X28 XP_047306105.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X28 XM_047450149.1:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X28 XP_047306105.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X29 XM_047450150.1:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X29 XP_047306106.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X29 XM_047450150.1:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X29 XP_047306106.1:p.Ser118Ile S (Ser) > I (Ile) Missense Variant
MAST2 transcript variant X30 XM_047450153.1:c.353G>A S [AGT] > N [AAT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X30 XP_047306109.1:p.Ser118Asn S (Ser) > N (Asn) Missense Variant
MAST2 transcript variant X30 XM_047450153.1:c.353G>T S [AGT] > I [ATT] Coding Sequence Variant
microtubule-associated serine/threonine-protein kinase 2 isoform X30 XP_047306109.1:p.Ser118Ile S (Ser) > I (Ile) 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 T
GRCh38.p14 chr 1 NC_000001.11:g.45829466= NC_000001.11:g.45829466G>A NC_000001.11:g.45829466G>T
GRCh37.p13 chr 1 NC_000001.10:g.46295138= NC_000001.10:g.46295138G>A NC_000001.10:g.46295138G>T
MAST2 transcript variant X1 XM_011541059.3:c.353= XM_011541059.3:c.353G>A XM_011541059.3:c.353G>T
MAST2 transcript variant X1 XM_011541059.2:c.353= XM_011541059.2:c.353G>A XM_011541059.2:c.353G>T
MAST2 transcript variant X1 XM_011541059.1:c.353= XM_011541059.1:c.353G>A XM_011541059.1:c.353G>T
MAST2 transcript variant X2 XM_011541061.3:c.353= XM_011541061.3:c.353G>A XM_011541061.3:c.353G>T
MAST2 transcript variant X2 XM_011541061.2:c.353= XM_011541061.2:c.353G>A XM_011541061.2:c.353G>T
MAST2 transcript variant X3 XM_011541061.1:c.353= XM_011541061.1:c.353G>A XM_011541061.1:c.353G>T
MAST2 transcript variant X3 XM_011541062.3:c.353= XM_011541062.3:c.353G>A XM_011541062.3:c.353G>T
MAST2 transcript variant X3 XM_011541062.2:c.353= XM_011541062.2:c.353G>A XM_011541062.2:c.353G>T
MAST2 transcript variant X4 XM_011541062.1:c.353= XM_011541062.1:c.353G>A XM_011541062.1:c.353G>T
MAST2 transcript variant 1 NM_015112.3:c.353= NM_015112.3:c.353G>A NM_015112.3:c.353G>T
MAST2 transcript variant 1 NM_015112.2:c.353= NM_015112.2:c.353G>A NM_015112.2:c.353G>T
MAST2 transcript variant X24 XM_011541069.3:c.353= XM_011541069.3:c.353G>A XM_011541069.3:c.353G>T
MAST2 transcript variant X16 XM_011541069.2:c.353= XM_011541069.2:c.353G>A XM_011541069.2:c.353G>T
MAST2 transcript variant X17 XM_011541069.1:c.353= XM_011541069.1:c.353G>A XM_011541069.1:c.353G>T
MAST2 transcript variant X6 XM_011541064.3:c.194= XM_011541064.3:c.194G>A XM_011541064.3:c.194G>T
MAST2 transcript variant X5 XM_011541064.2:c.194= XM_011541064.2:c.194G>A XM_011541064.2:c.194G>T
MAST2 transcript variant X6 XM_011541064.1:c.194= XM_011541064.1:c.194G>A XM_011541064.1:c.194G>T
MAST2 transcript variant 3 NM_001324320.2:c.353= NM_001324320.2:c.353G>A NM_001324320.2:c.353G>T
MAST2 transcript variant 3 NM_001324320.1:c.353= NM_001324320.1:c.353G>A NM_001324320.1:c.353G>T
MAST2 transcript variant 2 NM_001319245.2:c.353= NM_001319245.2:c.353G>A NM_001319245.2:c.353G>T
MAST2 transcript variant 2 NM_001319245.1:c.353= NM_001319245.1:c.353G>A NM_001319245.1:c.353G>T
MAST2 transcript variant X5 XM_011541063.2:c.203= XM_011541063.2:c.203G>A XM_011541063.2:c.203G>T
MAST2 transcript variant X4 XM_011541063.1:c.203= XM_011541063.1:c.203G>A XM_011541063.1:c.203G>T
MAST2 transcript variant X4 XM_047450096.1:c.353= XM_047450096.1:c.353G>A XM_047450096.1:c.353G>T
MAST2 transcript variant X8 XM_047450111.1:c.353= XM_047450111.1:c.353G>A XM_047450111.1:c.353G>T
MAST2 transcript variant X25 XM_047450141.1:c.353= XM_047450141.1:c.353G>A XM_047450141.1:c.353G>T
MAST2 transcript variant X26 XM_047450142.1:c.353= XM_047450142.1:c.353G>A XM_047450142.1:c.353G>T
MAST2 transcript variant X7 XM_047450105.1:c.194= XM_047450105.1:c.194G>A XM_047450105.1:c.194G>T
MAST2 transcript variant X27 XM_047450145.1:c.353= XM_047450145.1:c.353G>A XM_047450145.1:c.353G>T
MAST2 transcript variant X28 XM_047450149.1:c.353= XM_047450149.1:c.353G>A XM_047450149.1:c.353G>T
MAST2 transcript variant X29 XM_047450150.1:c.353= XM_047450150.1:c.353G>A XM_047450150.1:c.353G>T
MAST2 transcript variant X30 XM_047450153.1:c.353= XM_047450153.1:c.353G>A XM_047450153.1:c.353G>T
MAST2 transcript variant X10 XM_047450121.1:c.194= XM_047450121.1:c.194G>A XM_047450121.1:c.194G>T
MAST2 transcript variant X12 XM_047450123.1:c.194= XM_047450123.1:c.194G>A XM_047450123.1:c.194G>T
MAST2 transcript variant X13 XM_047450129.1:c.194= XM_047450129.1:c.194G>A XM_047450129.1:c.194G>T
MAST2 transcript variant X9 XM_047450116.1:c.203= XM_047450116.1:c.203G>A XM_047450116.1:c.203G>T
MAST2 transcript variant X11 XM_047450122.1:c.203= XM_047450122.1:c.203G>A XM_047450122.1:c.203G>T
microtubule-associated serine/threonine-protein kinase 2 isoform X1 XP_011539361.1:p.Ser118= XP_011539361.1:p.Ser118Asn XP_011539361.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X2 XP_011539363.1:p.Ser118= XP_011539363.1:p.Ser118Asn XP_011539363.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X3 XP_011539364.1:p.Ser118= XP_011539364.1:p.Ser118Asn XP_011539364.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform 1 NP_055927.2:p.Ser118= NP_055927.2:p.Ser118Asn NP_055927.2:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X24 XP_011539371.1:p.Ser118= XP_011539371.1:p.Ser118Asn XP_011539371.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X6 XP_011539366.1:p.Ser65= XP_011539366.1:p.Ser65Asn XP_011539366.1:p.Ser65Ile
microtubule-associated serine/threonine-protein kinase 2 isoform 3 NP_001311249.1:p.Ser118= NP_001311249.1:p.Ser118Asn NP_001311249.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform 2 NP_001306174.1:p.Ser118= NP_001306174.1:p.Ser118Asn NP_001306174.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X5 XP_011539365.1:p.Ser68= XP_011539365.1:p.Ser68Asn XP_011539365.1:p.Ser68Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X4 XP_047306052.1:p.Ser118= XP_047306052.1:p.Ser118Asn XP_047306052.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X8 XP_047306067.1:p.Ser118= XP_047306067.1:p.Ser118Asn XP_047306067.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X25 XP_047306097.1:p.Ser118= XP_047306097.1:p.Ser118Asn XP_047306097.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X26 XP_047306098.1:p.Ser118= XP_047306098.1:p.Ser118Asn XP_047306098.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X7 XP_047306061.1:p.Ser65= XP_047306061.1:p.Ser65Asn XP_047306061.1:p.Ser65Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X27 XP_047306101.1:p.Ser118= XP_047306101.1:p.Ser118Asn XP_047306101.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X28 XP_047306105.1:p.Ser118= XP_047306105.1:p.Ser118Asn XP_047306105.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X29 XP_047306106.1:p.Ser118= XP_047306106.1:p.Ser118Asn XP_047306106.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X30 XP_047306109.1:p.Ser118= XP_047306109.1:p.Ser118Asn XP_047306109.1:p.Ser118Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X10 XP_047306077.1:p.Ser65= XP_047306077.1:p.Ser65Asn XP_047306077.1:p.Ser65Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X12 XP_047306079.1:p.Ser65= XP_047306079.1:p.Ser65Asn XP_047306079.1:p.Ser65Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X13 XP_047306085.1:p.Ser65= XP_047306085.1:p.Ser65Asn XP_047306085.1:p.Ser65Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X9 XP_047306072.1:p.Ser68= XP_047306072.1:p.Ser68Asn XP_047306072.1:p.Ser68Ile
microtubule-associated serine/threonine-protein kinase 2 isoform X11 XP_047306078.1:p.Ser68= XP_047306078.1:p.Ser68Asn XP_047306078.1:p.Ser68Ile
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#.

1 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2731465837 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000001.10 - 46295138 Jul 12, 2019 (153)
3 ALFA NC_000001.11 - 45829466 Apr 25, 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
10406694907 NC_000001.11:45829465:G:A NC_000001.11:45829465:G:A (self)
483055, ss2731465837 NC_000001.10:46295137:G:T NC_000001.11:45829465:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1483252008

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