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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1467195253

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:103480403 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/249108, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MARK3 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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 249108 G=0.999996 T=0.000004
gnomAD - Exomes European Sub 134694 G=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 48498 G=1.00000 T=0.00000
gnomAD - Exomes American Sub 34338 G=0.99997 T=0.00003
gnomAD - Exomes African Sub 15472 G=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10062 G=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6044 G=1.0000 T=0.0000
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 14 NC_000014.9:g.103480403G>T
GRCh37.p13 chr 14 NC_000014.8:g.103946740G>T
MARK3 RefSeqGene NG_030339.2:g.100040G>T
Gene: MARK3, microtubule affinity regulating kinase 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MARK3 transcript variant 1 NM_001128918.3:c.1499G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform a NP_001122390.2:p.Gly500Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant 5 NM_001128921.3:c.1262G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform e NP_001122393.2:p.Gly421Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant 3 NM_002376.7:c.1499G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform c NP_002367.5:p.Gly500Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant 4 NM_001128920.3:c.1451G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform d NP_001122392.2:p.Gly484Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant 2 NM_001128919.3:c.1499G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform b NP_001122391.2:p.Gly500Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X1 XM_047431377.1:c.1457G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X1 XP_047287333.1:p.Gly486Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X2 XM_005267641.6:c.1499G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X2 XP_005267698.2:p.Gly500Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X3 XM_005267642.6:c.1451G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X3 XP_005267699.2:p.Gly484Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X4 XM_047431378.1:c.1445G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X4 XP_047287334.1:p.Gly482Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X5 XM_047431379.1:c.1457G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X5 XP_047287335.1:p.Gly486Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X6 XM_017021291.3:c.1451G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X6 XP_016876780.1:p.Gly484Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X7 XM_047431380.1:c.1445G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X7 XP_047287336.1:p.Gly482Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X7 XM_047431381.1:c.1409G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X7 XP_047287337.1:p.Gly470Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X8 XM_017021292.3:c.1451G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X8 XP_016876781.1:p.Gly484Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X9 XM_047431382.1:c.1445G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X9 XP_047287338.1:p.Gly482Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X10 XM_047431383.1:c.1457G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X10 XP_047287339.1:p.Gly486Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X11 XM_047431384.1:c.1445G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X11 XP_047287340.1:p.Gly482Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X12 XM_047431385.1:c.1409G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X12 XP_047287341.1:p.Gly470Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X13 XM_047431386.1:c.1355G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X13 XP_047287342.1:p.Gly452Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X14 XM_047431387.1:c.1409G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X14 XP_047287343.1:p.Gly470Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X15 XM_047431388.1:c.1397G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X15 XP_047287344.1:p.Gly466Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X16 XM_017021294.3:c.1307G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X16 XP_016876783.1:p.Gly436Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X17 XM_017021295.3:c.1307G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X17 XP_016876784.1:p.Gly436Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X19 XM_017021296.3:c.1307G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X19 XP_016876785.1:p.Gly436Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X18 XM_017021297.3:c.1259G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X18 XP_016876786.1:p.Gly420Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X19 XM_011536769.4:c.1259G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X19 XP_011535071.1:p.Gly420Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X20 XM_017021298.3:c.1307G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X20 XP_016876787.1:p.Gly436Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X21 XM_017021299.3:c.1259G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X21 XP_016876788.1:p.Gly420Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X22 XM_047431389.1:c.1259G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X22 XP_047287345.1:p.Gly420Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X23 XM_047431390.1:c.1259G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X23 XP_047287346.1:p.Gly420Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X24 XM_005267643.6:c.1499G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X24 XP_005267700.2:p.Gly500Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X25 XM_047431391.1:c.1451G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X25 XP_047287347.1:p.Gly484Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X26 XM_047431392.1:c.1445G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X26 XP_047287348.1:p.Gly482Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X27 XM_017021301.3:c.1106G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X27 XP_016876790.1:p.Gly369Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X28 XM_047431393.1:c.1028G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X28 XP_047287349.1:p.Gly343Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X29 XM_047431394.1:c.1028G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X28 XP_047287350.1:p.Gly343Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X30 XM_047431395.1:c.1028G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X29 XP_047287351.1:p.Gly343Val G (Gly) > V (Val) Missense Variant
MARK3 transcript variant X31 XM_047431396.1:c.980G>T G [GGT] > V [GTT] Coding Sequence Variant
MAP/microtubule affinity-regulating kinase 3 isoform X30 XP_047287352.1:p.Gly327Val G (Gly) > V (Val) 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= T
GRCh38.p14 chr 14 NC_000014.9:g.103480403= NC_000014.9:g.103480403G>T
GRCh37.p13 chr 14 NC_000014.8:g.103946740= NC_000014.8:g.103946740G>T
MARK3 RefSeqGene NG_030339.2:g.100040= NG_030339.2:g.100040G>T
MARK3 transcript variant 3 NM_002376.7:c.1499= NM_002376.7:c.1499G>T
MARK3 transcript variant 3 NM_002376.6:c.1499= NM_002376.6:c.1499G>T
MARK3 transcript variant 3 NM_002376.5:c.1499= NM_002376.5:c.1499G>T
MARK3 transcript variant 1 NM_001128918.3:c.1499= NM_001128918.3:c.1499G>T
MARK3 transcript variant 1 NM_001128918.2:c.1499= NM_001128918.2:c.1499G>T
MARK3 transcript variant 1 NM_001128918.1:c.1499= NM_001128918.1:c.1499G>T
MARK3 transcript variant 2 NM_001128919.3:c.1499= NM_001128919.3:c.1499G>T
MARK3 transcript variant 2 NM_001128919.2:c.1499= NM_001128919.2:c.1499G>T
MARK3 transcript variant 2 NM_001128919.1:c.1499= NM_001128919.1:c.1499G>T
MARK3 transcript variant 4 NM_001128920.3:c.1451= NM_001128920.3:c.1451G>T
MARK3 transcript variant 4 NM_001128920.2:c.1451= NM_001128920.2:c.1451G>T
MARK3 transcript variant 4 NM_001128920.1:c.1451= NM_001128920.1:c.1451G>T
MARK3 transcript variant 5 NM_001128921.3:c.1262= NM_001128921.3:c.1262G>T
MARK3 transcript variant 5 NM_001128921.2:c.1262= NM_001128921.2:c.1262G>T
MARK3 transcript variant 5 NM_001128921.1:c.1262= NM_001128921.1:c.1262G>T
MARK3 transcript variant 6 NM_001411055.1:c.1445= NM_001411055.1:c.1445G>T
MARK3 transcript variant 7 NM_001411056.1:c.1307= NM_001411056.1:c.1307G>T
MARK3 transcript variant X2 XM_005267641.6:c.1499= XM_005267641.6:c.1499G>T
MARK3 transcript variant X2 XM_005267641.5:c.1499= XM_005267641.5:c.1499G>T
MARK3 transcript variant X2 XM_005267641.4:c.1499= XM_005267641.4:c.1499G>T
MARK3 transcript variant X2 XM_005267641.3:c.1499= XM_005267641.3:c.1499G>T
MARK3 transcript variant X2 XM_005267641.2:c.1499= XM_005267641.2:c.1499G>T
MARK3 transcript variant X2 XM_005267641.1:c.1499= XM_005267641.1:c.1499G>T
MARK3 transcript variant X3 XM_005267642.6:c.1451= XM_005267642.6:c.1451G>T
MARK3 transcript variant X3 XM_005267642.5:c.1451= XM_005267642.5:c.1451G>T
MARK3 transcript variant X3 XM_005267642.4:c.1451= XM_005267642.4:c.1451G>T
MARK3 transcript variant X3 XM_005267642.3:c.1451= XM_005267642.3:c.1451G>T
MARK3 transcript variant X3 XM_005267642.2:c.1451= XM_005267642.2:c.1451G>T
MARK3 transcript variant X3 XM_005267642.1:c.1451= XM_005267642.1:c.1451G>T
MARK3 transcript variant X24 XM_005267643.6:c.1499= XM_005267643.6:c.1499G>T
MARK3 transcript variant X14 XM_005267643.5:c.1499= XM_005267643.5:c.1499G>T
MARK3 transcript variant X14 XM_005267643.4:c.1499= XM_005267643.4:c.1499G>T
MARK3 transcript variant X7 XM_005267643.3:c.1499= XM_005267643.3:c.1499G>T
MARK3 transcript variant X4 XM_005267643.2:c.1499= XM_005267643.2:c.1499G>T
MARK3 transcript variant X4 XM_005267643.1:c.1499= XM_005267643.1:c.1499G>T
MARK3 transcript variant X19 XM_011536769.4:c.1259= XM_011536769.4:c.1259G>T
MARK3 transcript variant X10 XM_011536769.3:c.1259= XM_011536769.3:c.1259G>T
MARK3 transcript variant X10 XM_011536769.2:c.1259= XM_011536769.2:c.1259G>T
MARK3 transcript variant X5 XM_011536769.1:c.1259= XM_011536769.1:c.1259G>T
MARK3 transcript variant X6 XM_017021291.3:c.1451= XM_017021291.3:c.1451G>T
MARK3 transcript variant X4 XM_017021291.2:c.1451= XM_017021291.2:c.1451G>T
MARK3 transcript variant X4 XM_017021291.1:c.1451= XM_017021291.1:c.1451G>T
MARK3 transcript variant X8 XM_017021292.3:c.1451= XM_017021292.3:c.1451G>T
MARK3 transcript variant X5 XM_017021292.2:c.1451= XM_017021292.2:c.1451G>T
MARK3 transcript variant X5 XM_017021292.1:c.1451= XM_017021292.1:c.1451G>T
MARK3 transcript variant X16 XM_017021294.3:c.1307= XM_017021294.3:c.1307G>T
MARK3 transcript variant X7 XM_017021294.2:c.1307= XM_017021294.2:c.1307G>T
MARK3 transcript variant X7 XM_017021294.1:c.1307= XM_017021294.1:c.1307G>T
MARK3 transcript variant X17 XM_017021295.3:c.1307= XM_017021295.3:c.1307G>T
MARK3 transcript variant X8 XM_017021295.2:c.1307= XM_017021295.2:c.1307G>T
MARK3 transcript variant X8 XM_017021295.1:c.1307= XM_017021295.1:c.1307G>T
MARK3 transcript variant X19 XM_017021296.3:c.1307= XM_017021296.3:c.1307G>T
MARK3 transcript variant X18 XM_017021297.3:c.1259= XM_017021297.3:c.1259G>T
MARK3 transcript variant X11 XM_017021297.2:c.1259= XM_017021297.2:c.1259G>T
MARK3 transcript variant X11 XM_017021297.1:c.1259= XM_017021297.1:c.1259G>T
MARK3 transcript variant X27 XM_017021301.3:c.1106= XM_017021301.3:c.1106G>T
MARK3 transcript variant X16 XM_017021301.2:c.1106= XM_017021301.2:c.1106G>T
MARK3 transcript variant X16 XM_017021301.1:c.1106= XM_017021301.1:c.1106G>T
MARK3 transcript variant X20 XM_017021298.3:c.1307= XM_017021298.3:c.1307G>T
MARK3 transcript variant X12 XM_017021298.2:c.1307= XM_017021298.2:c.1307G>T
MARK3 transcript variant X12 XM_017021298.1:c.1307= XM_017021298.1:c.1307G>T
MARK3 transcript variant X21 XM_017021299.3:c.1259= XM_017021299.3:c.1259G>T
MARK3 transcript variant X13 XM_017021299.2:c.1259= XM_017021299.2:c.1259G>T
MARK3 transcript variant X13 XM_017021299.1:c.1259= XM_017021299.1:c.1259G>T
MARK3 transcript variant X4 XM_047431378.1:c.1445= XM_047431378.1:c.1445G>T
MARK3 transcript variant X7 XM_047431380.1:c.1445= XM_047431380.1:c.1445G>T
MARK3 transcript variant X9 XM_047431382.1:c.1445= XM_047431382.1:c.1445G>T
MARK3 transcript variant X11 XM_047431384.1:c.1445= XM_047431384.1:c.1445G>T
MARK3 transcript variant X15 XM_047431388.1:c.1397= XM_047431388.1:c.1397G>T
MARK3 transcript variant X23 XM_047431390.1:c.1259= XM_047431390.1:c.1259G>T
MARK3 transcript variant X25 XM_047431391.1:c.1451= XM_047431391.1:c.1451G>T
MARK3 transcript variant X26 XM_047431392.1:c.1445= XM_047431392.1:c.1445G>T
MARK3 transcript variant X7 XM_047431381.1:c.1409= XM_047431381.1:c.1409G>T
MARK3 transcript variant X12 XM_047431385.1:c.1409= XM_047431385.1:c.1409G>T
MARK3 transcript variant X13 XM_047431386.1:c.1355= XM_047431386.1:c.1355G>T
MARK3 transcript variant X1 XM_047431377.1:c.1457= XM_047431377.1:c.1457G>T
MARK3 transcript variant X5 XM_047431379.1:c.1457= XM_047431379.1:c.1457G>T
MARK3 transcript variant X10 XM_047431383.1:c.1457= XM_047431383.1:c.1457G>T
MARK3 transcript variant X14 XM_047431387.1:c.1409= XM_047431387.1:c.1409G>T
MARK3 transcript variant X22 XM_047431389.1:c.1259= XM_047431389.1:c.1259G>T
MARK3 transcript variant X28 XM_047431393.1:c.1028= XM_047431393.1:c.1028G>T
MARK3 transcript variant X29 XM_047431394.1:c.1028= XM_047431394.1:c.1028G>T
MARK3 transcript variant X30 XM_047431395.1:c.1028= XM_047431395.1:c.1028G>T
MARK3 transcript variant X31 XM_047431396.1:c.980= XM_047431396.1:c.980G>T
MAP/microtubule affinity-regulating kinase 3 isoform c NP_002367.5:p.Gly500= NP_002367.5:p.Gly500Val
MAP/microtubule affinity-regulating kinase 3 isoform a NP_001122390.2:p.Gly500= NP_001122390.2:p.Gly500Val
MAP/microtubule affinity-regulating kinase 3 isoform b NP_001122391.2:p.Gly500= NP_001122391.2:p.Gly500Val
MAP/microtubule affinity-regulating kinase 3 isoform d NP_001122392.2:p.Gly484= NP_001122392.2:p.Gly484Val
MAP/microtubule affinity-regulating kinase 3 isoform e NP_001122393.2:p.Gly421= NP_001122393.2:p.Gly421Val
MAP/microtubule affinity-regulating kinase 3 isoform X2 XP_005267698.2:p.Gly500= XP_005267698.2:p.Gly500Val
MAP/microtubule affinity-regulating kinase 3 isoform X3 XP_005267699.2:p.Gly484= XP_005267699.2:p.Gly484Val
MAP/microtubule affinity-regulating kinase 3 isoform X24 XP_005267700.2:p.Gly500= XP_005267700.2:p.Gly500Val
MAP/microtubule affinity-regulating kinase 3 isoform X19 XP_011535071.1:p.Gly420= XP_011535071.1:p.Gly420Val
MAP/microtubule affinity-regulating kinase 3 isoform X6 XP_016876780.1:p.Gly484= XP_016876780.1:p.Gly484Val
MAP/microtubule affinity-regulating kinase 3 isoform X8 XP_016876781.1:p.Gly484= XP_016876781.1:p.Gly484Val
MAP/microtubule affinity-regulating kinase 3 isoform X16 XP_016876783.1:p.Gly436= XP_016876783.1:p.Gly436Val
MAP/microtubule affinity-regulating kinase 3 isoform X17 XP_016876784.1:p.Gly436= XP_016876784.1:p.Gly436Val
MAP/microtubule affinity-regulating kinase 3 isoform X19 XP_016876785.1:p.Gly436= XP_016876785.1:p.Gly436Val
MAP/microtubule affinity-regulating kinase 3 isoform X18 XP_016876786.1:p.Gly420= XP_016876786.1:p.Gly420Val
MAP/microtubule affinity-regulating kinase 3 isoform X27 XP_016876790.1:p.Gly369= XP_016876790.1:p.Gly369Val
MAP/microtubule affinity-regulating kinase 3 isoform X20 XP_016876787.1:p.Gly436= XP_016876787.1:p.Gly436Val
MAP/microtubule affinity-regulating kinase 3 isoform X21 XP_016876788.1:p.Gly420= XP_016876788.1:p.Gly420Val
MAP/microtubule affinity-regulating kinase 3 isoform X4 XP_047287334.1:p.Gly482= XP_047287334.1:p.Gly482Val
MAP/microtubule affinity-regulating kinase 3 isoform X7 XP_047287336.1:p.Gly482= XP_047287336.1:p.Gly482Val
MAP/microtubule affinity-regulating kinase 3 isoform X9 XP_047287338.1:p.Gly482= XP_047287338.1:p.Gly482Val
MAP/microtubule affinity-regulating kinase 3 isoform X11 XP_047287340.1:p.Gly482= XP_047287340.1:p.Gly482Val
MAP/microtubule affinity-regulating kinase 3 isoform X15 XP_047287344.1:p.Gly466= XP_047287344.1:p.Gly466Val
MAP/microtubule affinity-regulating kinase 3 isoform X23 XP_047287346.1:p.Gly420= XP_047287346.1:p.Gly420Val
MAP/microtubule affinity-regulating kinase 3 isoform X25 XP_047287347.1:p.Gly484= XP_047287347.1:p.Gly484Val
MAP/microtubule affinity-regulating kinase 3 isoform X26 XP_047287348.1:p.Gly482= XP_047287348.1:p.Gly482Val
MAP/microtubule affinity-regulating kinase 3 isoform X7 XP_047287337.1:p.Gly470= XP_047287337.1:p.Gly470Val
MAP/microtubule affinity-regulating kinase 3 isoform X12 XP_047287341.1:p.Gly470= XP_047287341.1:p.Gly470Val
MAP/microtubule affinity-regulating kinase 3 isoform X13 XP_047287342.1:p.Gly452= XP_047287342.1:p.Gly452Val
MAP/microtubule affinity-regulating kinase 3 isoform X1 XP_047287333.1:p.Gly486= XP_047287333.1:p.Gly486Val
MAP/microtubule affinity-regulating kinase 3 isoform X5 XP_047287335.1:p.Gly486= XP_047287335.1:p.Gly486Val
MAP/microtubule affinity-regulating kinase 3 isoform X10 XP_047287339.1:p.Gly486= XP_047287339.1:p.Gly486Val
MAP/microtubule affinity-regulating kinase 3 isoform X14 XP_047287343.1:p.Gly470= XP_047287343.1:p.Gly470Val
MAP/microtubule affinity-regulating kinase 3 isoform X22 XP_047287345.1:p.Gly420= XP_047287345.1:p.Gly420Val
MAP/microtubule affinity-regulating kinase 3 isoform X28 XP_047287349.1:p.Gly343= XP_047287349.1:p.Gly343Val
MAP/microtubule affinity-regulating kinase 3 isoform X28 XP_047287350.1:p.Gly343= XP_047287350.1:p.Gly343Val
MAP/microtubule affinity-regulating kinase 3 isoform X29 XP_047287351.1:p.Gly343= XP_047287351.1:p.Gly343Val
MAP/microtubule affinity-regulating kinase 3 isoform X30 XP_047287352.1:p.Gly327= XP_047287352.1:p.Gly327Val
MAP/microtubule affinity-regulating kinase 3 isoform a NP_001122390.1:p.Gly500= NP_001122390.1:p.Gly500Val
MAP/microtubule affinity-regulating kinase 3 isoform b NP_001122391.1:p.Gly500= NP_001122391.1:p.Gly500Val
MAP/microtubule affinity-regulating kinase 3 isoform d NP_001122392.1:p.Gly484= NP_001122392.1:p.Gly484Val
MAP/microtubule affinity-regulating kinase 3 isoform e NP_001122393.1:p.Gly421= NP_001122393.1:p.Gly421Val
MAP/microtubule affinity-regulating kinase 3 isoform c NP_002367.4:p.Gly500= NP_002367.4:p.Gly500Val
MAP/microtubule affinity-regulating kinase 3 isoform X2 XP_005267698.1:p.Gly500= XP_005267698.1:p.Gly500Val
MAP/microtubule affinity-regulating kinase 3 isoform X3 XP_005267699.1:p.Gly484= XP_005267699.1:p.Gly484Val
MAP/microtubule affinity-regulating kinase 3 isoform X4 XP_005267700.1:p.Gly500= XP_005267700.1:p.Gly500Val
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740971798 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000014.8 - 103946740 Jul 13, 2019 (153)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
10231174, ss2740971798 NC_000014.8:103946739:G:T NC_000014.9:103480402:G:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1467195253

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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