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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.

rs1477726171

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:4893053 (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
C>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000006 (1/170398, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MINK1 : 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 170398 C=0.999994 A=0.000006
gnomAD - Exomes European Sub 87152 C=0.99999 A=0.00001
gnomAD - Exomes Asian Sub 35194 C=1.00000 A=0.00000
gnomAD - Exomes American Sub 25956 C=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 8816 C=1.0000 A=0.0000
gnomAD - Exomes African Sub 8644 C=1.0000 A=0.0000
gnomAD - Exomes Other Sub 4636 C=1.0000 A=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 17 NC_000017.11:g.4893053C>A
GRCh37.p13 chr 17 NC_000017.10:g.4796348C>A
MINK1 RefSeqGene NG_028005.1:g.64714C>A
Gene: MINK1, misshapen like kinase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MINK1 transcript variant 3 NM_153827.5:c.2386C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform 3 NP_722549.2:p.Pro796Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant 4 NM_001024937.4:c.2326C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform 4 NP_001020108.1:p.Pro776Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant 1 NM_015716.5:c.2275C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform 1 NP_056531.1:p.Pro759Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant 2 NM_170663.5:c.2275C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform 2 NP_733763.1:p.Pro759Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant 5 NM_001321236.2:c.2110C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform 5 NP_001308165.1:p.Pro704Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X1 XM_006721531.2:c.2473C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X1 XP_006721594.1:p.Pro825Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X2 XM_006721532.2:c.2473C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X2 XP_006721595.1:p.Pro825Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X9 XM_011523906.1:c.2377C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X9 XP_011522208.1:p.Pro793Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X11 XM_006721536.2:c.2362C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X11 XP_006721599.1:p.Pro788Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X3 XM_017024704.1:c.2464C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X3 XP_016880193.1:p.Pro822Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X5 XM_017024705.1:c.2413C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X5 XP_016880194.1:p.Pro805Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X12 XM_017024706.1:c.2362C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X12 XP_016880195.1:p.Pro788Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X4 XM_047436165.1:c.2464C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X4 XP_047292121.1:p.Pro822Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X6 XM_047436166.1:c.2413C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X6 XP_047292122.1:p.Pro805Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X7 XM_047436167.1:c.2404C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X7 XP_047292123.1:p.Pro802Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X8 XM_047436168.1:c.2386C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X8 XP_047292124.1:p.Pro796Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X10 XM_047436169.1:c.2377C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X10 XP_047292125.1:p.Pro793Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X13 XM_047436170.1:c.2326C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X13 XP_047292126.1:p.Pro776Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X14 XM_047436171.1:c.2317C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X14 XP_047292127.1:p.Pro773Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X15 XM_047436172.1:c.2317C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X15 XP_047292128.1:p.Pro773Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X16 XM_017024707.3:c.2308C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X16 XP_016880196.1:p.Pro770Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X17 XM_047436173.1:c.2275C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X17 XP_047292129.1:p.Pro759Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X18 XM_047436174.1:c.2266C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X18 XP_047292130.1:p.Pro756Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X19 XM_047436175.1:c.2266C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X19 XP_047292131.1:p.Pro756Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X20 XM_017024708.2:c.2260C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X20 XP_016880197.1:p.Pro754Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X21 XM_047436176.1:c.2215C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X21 XP_047292132.1:p.Pro739Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X22 XM_047436177.1:c.2215C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X22 XP_047292133.1:p.Pro739Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X23 XM_047436178.1:c.2206C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X23 XP_047292134.1:p.Pro736Thr P (Pro) > T (Thr) Missense Variant
MINK1 transcript variant X24 XM_047436179.1:c.2473C>A P [CCA] > T [ACA] Coding Sequence Variant
misshapen-like kinase 1 isoform X24 XP_047292135.1:p.Pro825Thr P (Pro) > T (Thr) 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 C= A
GRCh38.p14 chr 17 NC_000017.11:g.4893053= NC_000017.11:g.4893053C>A
GRCh37.p13 chr 17 NC_000017.10:g.4796348= NC_000017.10:g.4796348C>A
MINK1 RefSeqGene NG_028005.1:g.64714= NG_028005.1:g.64714C>A
MINK1 transcript variant 3 NM_153827.5:c.2386= NM_153827.5:c.2386C>A
MINK1 transcript variant 3 NM_153827.4:c.2386= NM_153827.4:c.2386C>A
MINK1 transcript variant 2 NM_170663.5:c.2275= NM_170663.5:c.2275C>A
MINK1 transcript variant 2 NM_170663.4:c.2275= NM_170663.4:c.2275C>A
MINK1 transcript variant 1 NM_015716.5:c.2275= NM_015716.5:c.2275C>A
MINK1 transcript variant 1 NM_015716.4:c.2275= NM_015716.4:c.2275C>A
MINK1 transcript variant 4 NM_001024937.4:c.2326= NM_001024937.4:c.2326C>A
MINK1 transcript variant 4 NM_001024937.3:c.2326= NM_001024937.3:c.2326C>A
MINK1 transcript variant 5 NM_001321236.2:c.2110= NM_001321236.2:c.2110C>A
MINK1 transcript variant 5 NM_001321236.1:c.2110= NM_001321236.1:c.2110C>A
MINK1 transcript variant X16 XM_017024707.3:c.2308= XM_017024707.3:c.2308C>A
MINK1 transcript variant X8 XM_017024707.2:c.2308= XM_017024707.2:c.2308C>A
MINK1 transcript variant X8 XM_017024707.1:c.2308= XM_017024707.1:c.2308C>A
MINK1 transcript variant X1 XM_006721531.2:c.2473= XM_006721531.2:c.2473C>A
MINK1 transcript variant X5 XM_006721531.1:c.2473= XM_006721531.1:c.2473C>A
MINK1 transcript variant X2 XM_006721532.2:c.2473= XM_006721532.2:c.2473C>A
MINK1 transcript variant X6 XM_006721532.1:c.2473= XM_006721532.1:c.2473C>A
MINK1 transcript variant X20 XM_017024708.2:c.2260= XM_017024708.2:c.2260C>A
MINK1 transcript variant X9 XM_017024708.1:c.2260= XM_017024708.1:c.2260C>A
MINK1 transcript variant X11 XM_006721536.2:c.2362= XM_006721536.2:c.2362C>A
MINK1 transcript variant X10 XM_006721536.1:c.2362= XM_006721536.1:c.2362C>A
MINK1 transcript variant X3 XM_017024704.1:c.2464= XM_017024704.1:c.2464C>A
MINK1 transcript variant X4 XM_047436165.1:c.2464= XM_047436165.1:c.2464C>A
MINK1 transcript variant X5 XM_017024705.1:c.2413= XM_017024705.1:c.2413C>A
MINK1 transcript variant X6 XM_047436166.1:c.2413= XM_047436166.1:c.2413C>A
MINK1 transcript variant X7 XM_047436167.1:c.2404= XM_047436167.1:c.2404C>A
MINK1 transcript variant X8 XM_047436168.1:c.2386= XM_047436168.1:c.2386C>A
MINK1 transcript variant X9 XM_011523906.1:c.2377= XM_011523906.1:c.2377C>A
MINK1 transcript variant X10 XM_047436169.1:c.2377= XM_047436169.1:c.2377C>A
MINK1 transcript variant X12 XM_017024706.1:c.2362= XM_017024706.1:c.2362C>A
MINK1 transcript variant X13 XM_047436170.1:c.2326= XM_047436170.1:c.2326C>A
MINK1 transcript variant X14 XM_047436171.1:c.2317= XM_047436171.1:c.2317C>A
MINK1 transcript variant X15 XM_047436172.1:c.2317= XM_047436172.1:c.2317C>A
MINK1 transcript variant X17 XM_047436173.1:c.2275= XM_047436173.1:c.2275C>A
MINK1 transcript variant X18 XM_047436174.1:c.2266= XM_047436174.1:c.2266C>A
MINK1 transcript variant X19 XM_047436175.1:c.2266= XM_047436175.1:c.2266C>A
MINK1 transcript variant X21 XM_047436176.1:c.2215= XM_047436176.1:c.2215C>A
MINK1 transcript variant X22 XM_047436177.1:c.2215= XM_047436177.1:c.2215C>A
MINK1 transcript variant X23 XM_047436178.1:c.2206= XM_047436178.1:c.2206C>A
MINK1 transcript variant X24 XM_047436179.1:c.2473= XM_047436179.1:c.2473C>A
misshapen-like kinase 1 isoform 3 NP_722549.2:p.Pro796= NP_722549.2:p.Pro796Thr
misshapen-like kinase 1 isoform 2 NP_733763.1:p.Pro759= NP_733763.1:p.Pro759Thr
misshapen-like kinase 1 isoform 1 NP_056531.1:p.Pro759= NP_056531.1:p.Pro759Thr
misshapen-like kinase 1 isoform 4 NP_001020108.1:p.Pro776= NP_001020108.1:p.Pro776Thr
misshapen-like kinase 1 isoform 5 NP_001308165.1:p.Pro704= NP_001308165.1:p.Pro704Thr
misshapen-like kinase 1 isoform X16 XP_016880196.1:p.Pro770= XP_016880196.1:p.Pro770Thr
misshapen-like kinase 1 isoform X1 XP_006721594.1:p.Pro825= XP_006721594.1:p.Pro825Thr
misshapen-like kinase 1 isoform X2 XP_006721595.1:p.Pro825= XP_006721595.1:p.Pro825Thr
misshapen-like kinase 1 isoform X20 XP_016880197.1:p.Pro754= XP_016880197.1:p.Pro754Thr
misshapen-like kinase 1 isoform X11 XP_006721599.1:p.Pro788= XP_006721599.1:p.Pro788Thr
misshapen-like kinase 1 isoform X3 XP_016880193.1:p.Pro822= XP_016880193.1:p.Pro822Thr
misshapen-like kinase 1 isoform X4 XP_047292121.1:p.Pro822= XP_047292121.1:p.Pro822Thr
misshapen-like kinase 1 isoform X5 XP_016880194.1:p.Pro805= XP_016880194.1:p.Pro805Thr
misshapen-like kinase 1 isoform X6 XP_047292122.1:p.Pro805= XP_047292122.1:p.Pro805Thr
misshapen-like kinase 1 isoform X7 XP_047292123.1:p.Pro802= XP_047292123.1:p.Pro802Thr
misshapen-like kinase 1 isoform X8 XP_047292124.1:p.Pro796= XP_047292124.1:p.Pro796Thr
misshapen-like kinase 1 isoform X9 XP_011522208.1:p.Pro793= XP_011522208.1:p.Pro793Thr
misshapen-like kinase 1 isoform X10 XP_047292125.1:p.Pro793= XP_047292125.1:p.Pro793Thr
misshapen-like kinase 1 isoform X12 XP_016880195.1:p.Pro788= XP_016880195.1:p.Pro788Thr
misshapen-like kinase 1 isoform X13 XP_047292126.1:p.Pro776= XP_047292126.1:p.Pro776Thr
misshapen-like kinase 1 isoform X14 XP_047292127.1:p.Pro773= XP_047292127.1:p.Pro773Thr
misshapen-like kinase 1 isoform X15 XP_047292128.1:p.Pro773= XP_047292128.1:p.Pro773Thr
misshapen-like kinase 1 isoform X17 XP_047292129.1:p.Pro759= XP_047292129.1:p.Pro759Thr
misshapen-like kinase 1 isoform X18 XP_047292130.1:p.Pro756= XP_047292130.1:p.Pro756Thr
misshapen-like kinase 1 isoform X19 XP_047292131.1:p.Pro756= XP_047292131.1:p.Pro756Thr
misshapen-like kinase 1 isoform X21 XP_047292132.1:p.Pro739= XP_047292132.1:p.Pro739Thr
misshapen-like kinase 1 isoform X22 XP_047292133.1:p.Pro739= XP_047292133.1:p.Pro739Thr
misshapen-like kinase 1 isoform X23 XP_047292134.1:p.Pro736= XP_047292134.1:p.Pro736Thr
misshapen-like kinase 1 isoform X24 XP_047292135.1:p.Pro825= XP_047292135.1:p.Pro825Thr
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, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2742351932 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000017.10 - 4796348 Jul 13, 2019 (153)
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
11647450, ss2742351932 NC_000017.10:4796347:C:A NC_000017.11:4893052:C:A (self)
Help

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

No publications for rs1477726171

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