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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.

rs1482946210

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:27749729 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000012 (3/250040, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KATNIP : Synonymous Variant
LOC105371157 : 2KB Upstream 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 250040 C=0.999988 T=0.000012
gnomAD - Exomes European Sub 134626 C=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 48740 C=0.99996 T=0.00004
gnomAD - Exomes American Sub 34436 C=0.99997 T=0.00003
gnomAD - Exomes African Sub 16170 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9994 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 6074 C=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 16 NC_000016.10:g.27749729C>T
GRCh37.p13 chr 16 NC_000016.9:g.27761050C>T
KATNIP RefSeqGene NG_046731.1:g.204583C>T
Gene: KATNIP, katanin interacting protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
KATNIP transcript NM_015202.5:c.2769C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein NP_056017.4:p.Ile923= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X1 XM_005255201.4:c.2952C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X1 XP_005255258.1:p.Ile984= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X2 XM_005255202.4:c.2898C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X2 XP_005255259.1:p.Ile966= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X3 XM_011545773.3:c.2874C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X3 XP_011544075.1:p.Ile958= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X4 XM_011545774.3:c.2874C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X3 XP_011544076.1:p.Ile958= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X5 XM_011545775.3:c.2832C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X4 XP_011544077.1:p.Ile944= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X6 XM_005255203.4:c.2823C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X5 XP_005255260.1:p.Ile941= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X7 XM_011545776.3:c.2820C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X6 XP_011544078.1:p.Ile940= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X8 XM_024450216.2:c.2766C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X7 XP_024305984.1:p.Ile922= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X9 XM_017023085.2:c.2703C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X8 XP_016878574.1:p.Ile901= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X10 XM_047433842.1:c.2700C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X9 XP_047289798.1:p.Ile900= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X11 XM_006721025.4:c.2691C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X10 XP_006721088.1:p.Ile897= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X12 XM_017023087.2:c.2637C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X11 XP_016878576.1:p.Ile879= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X13 XM_047433843.1:c.2571C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X12 XP_047289799.1:p.Ile857= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X14 XM_047433844.1:c.2286C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X13 XP_047289800.1:p.Ile762= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X15 XM_005255206.4:c.2952C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X14 XP_005255263.1:p.Ile984= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X16 XM_047433845.1:c.1647C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X15 XP_047289801.1:p.Ile549= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X17 XM_005255208.3:c.1548C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X16 XP_005255265.1:p.Ile516= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X18 XM_047433846.1:c.2832C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X17 XP_047289802.1:p.Ile944= I (Ile) > I (Ile) Synonymous Variant
KATNIP transcript variant X19 XM_011545777.3:c.873C>T I [ATC] > I [ATT] Coding Sequence Variant
katanin-interacting protein isoform X18 XP_011544079.1:p.Ile291= I (Ile) > I (Ile) Synonymous Variant
Gene: LOC105371157, uncharacterized LOC105371157 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC105371157 transcript XR_950957.3:n. N/A Upstream 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 C= T
GRCh38.p14 chr 16 NC_000016.10:g.27749729= NC_000016.10:g.27749729C>T
GRCh37.p13 chr 16 NC_000016.9:g.27761050= NC_000016.9:g.27761050C>T
KATNIP RefSeqGene NG_046731.1:g.204583= NG_046731.1:g.204583C>T
KATNIP transcript NM_015202.5:c.2769= NM_015202.5:c.2769C>T
KATNIP transcript NM_015202.4:c.2769= NM_015202.4:c.2769C>T
KIAA0556 transcript NM_015202.3:c.2769= NM_015202.3:c.2769C>T
KIAA0556 transcript NM_015202.2:c.2769= NM_015202.2:c.2769C>T
KATNIP transcript variant X1 XM_005255201.4:c.2952= XM_005255201.4:c.2952C>T
KATNIP transcript variant X1 XM_005255201.3:c.2952= XM_005255201.3:c.2952C>T
KIAA0556 transcript variant X1 XM_005255201.2:c.2952= XM_005255201.2:c.2952C>T
KIAA0556 transcript variant X1 XM_005255201.1:c.2952= XM_005255201.1:c.2952C>T
KATNIP transcript variant X2 XM_005255202.4:c.2898= XM_005255202.4:c.2898C>T
KATNIP transcript variant X2 XM_005255202.3:c.2898= XM_005255202.3:c.2898C>T
KIAA0556 transcript variant X2 XM_005255202.2:c.2898= XM_005255202.2:c.2898C>T
KIAA0556 transcript variant X2 XM_005255202.1:c.2898= XM_005255202.1:c.2898C>T
KATNIP transcript variant X6 XM_005255203.4:c.2823= XM_005255203.4:c.2823C>T
KATNIP transcript variant X6 XM_005255203.3:c.2823= XM_005255203.3:c.2823C>T
KIAA0556 transcript variant X6 XM_005255203.2:c.2823= XM_005255203.2:c.2823C>T
KIAA0556 transcript variant X3 XM_005255203.1:c.2823= XM_005255203.1:c.2823C>T
KATNIP transcript variant X11 XM_006721025.4:c.2691= XM_006721025.4:c.2691C>T
KATNIP transcript variant X11 XM_006721025.3:c.2691= XM_006721025.3:c.2691C>T
KIAA0556 transcript variant X8 XM_006721025.2:c.2691= XM_006721025.2:c.2691C>T
KIAA0556 transcript variant X9 XM_006721025.1:c.2691= XM_006721025.1:c.2691C>T
KATNIP transcript variant X15 XM_005255206.4:c.2952= XM_005255206.4:c.2952C>T
KATNIP transcript variant X14 XM_005255206.3:c.2952= XM_005255206.3:c.2952C>T
KIAA0556 transcript variant X9 XM_005255206.2:c.2952= XM_005255206.2:c.2952C>T
KIAA0556 transcript variant X6 XM_005255206.1:c.2952= XM_005255206.1:c.2952C>T
KATNIP transcript variant X3 XM_011545773.3:c.2874= XM_011545773.3:c.2874C>T
KATNIP transcript variant X3 XM_011545773.2:c.2874= XM_011545773.2:c.2874C>T
KIAA0556 transcript variant X3 XM_011545773.1:c.2874= XM_011545773.1:c.2874C>T
KATNIP transcript variant X4 XM_011545774.3:c.2874= XM_011545774.3:c.2874C>T
KATNIP transcript variant X4 XM_011545774.2:c.2874= XM_011545774.2:c.2874C>T
KIAA0556 transcript variant X4 XM_011545774.1:c.2874= XM_011545774.1:c.2874C>T
KATNIP transcript variant X5 XM_011545775.3:c.2832= XM_011545775.3:c.2832C>T
KATNIP transcript variant X5 XM_011545775.2:c.2832= XM_011545775.2:c.2832C>T
KIAA0556 transcript variant X5 XM_011545775.1:c.2832= XM_011545775.1:c.2832C>T
KATNIP transcript variant X7 XM_011545776.3:c.2820= XM_011545776.3:c.2820C>T
KATNIP transcript variant X7 XM_011545776.2:c.2820= XM_011545776.2:c.2820C>T
KIAA0556 transcript variant X7 XM_011545776.1:c.2820= XM_011545776.1:c.2820C>T
KATNIP transcript variant X17 XM_005255208.3:c.1548= XM_005255208.3:c.1548C>T
KATNIP transcript variant X16 XM_005255208.2:c.1548= XM_005255208.2:c.1548C>T
KIAA0556 transcript variant X8 XM_005255208.1:c.1548= XM_005255208.1:c.1548C>T
KATNIP transcript variant X19 XM_011545777.3:c.873= XM_011545777.3:c.873C>T
KATNIP transcript variant X17 XM_011545777.2:c.873= XM_011545777.2:c.873C>T
KIAA0556 transcript variant X12 XM_011545777.1:c.873= XM_011545777.1:c.873C>T
KATNIP transcript variant X8 XM_024450216.2:c.2766= XM_024450216.2:c.2766C>T
KATNIP transcript variant X8 XM_024450216.1:c.2766= XM_024450216.1:c.2766C>T
KATNIP transcript variant X9 XM_017023085.2:c.2703= XM_017023085.2:c.2703C>T
KATNIP transcript variant X9 XM_017023085.1:c.2703= XM_017023085.1:c.2703C>T
KATNIP transcript variant X12 XM_017023087.2:c.2637= XM_017023087.2:c.2637C>T
KATNIP transcript variant X12 XM_017023087.1:c.2637= XM_017023087.1:c.2637C>T
KATNIP transcript variant X14 XM_047433844.1:c.2286= XM_047433844.1:c.2286C>T
KATNIP transcript variant X10 XM_047433842.1:c.2700= XM_047433842.1:c.2700C>T
KATNIP transcript variant X13 XM_047433843.1:c.2571= XM_047433843.1:c.2571C>T
KATNIP transcript variant X16 XM_047433845.1:c.1647= XM_047433845.1:c.1647C>T
KATNIP transcript variant X18 XM_047433846.1:c.2832= XM_047433846.1:c.2832C>T
katanin-interacting protein NP_056017.4:p.Ile923= NP_056017.4:p.Ile923=
katanin-interacting protein isoform X1 XP_005255258.1:p.Ile984= XP_005255258.1:p.Ile984=
katanin-interacting protein isoform X2 XP_005255259.1:p.Ile966= XP_005255259.1:p.Ile966=
katanin-interacting protein isoform X5 XP_005255260.1:p.Ile941= XP_005255260.1:p.Ile941=
katanin-interacting protein isoform X10 XP_006721088.1:p.Ile897= XP_006721088.1:p.Ile897=
katanin-interacting protein isoform X14 XP_005255263.1:p.Ile984= XP_005255263.1:p.Ile984=
katanin-interacting protein isoform X3 XP_011544075.1:p.Ile958= XP_011544075.1:p.Ile958=
katanin-interacting protein isoform X3 XP_011544076.1:p.Ile958= XP_011544076.1:p.Ile958=
katanin-interacting protein isoform X4 XP_011544077.1:p.Ile944= XP_011544077.1:p.Ile944=
katanin-interacting protein isoform X6 XP_011544078.1:p.Ile940= XP_011544078.1:p.Ile940=
katanin-interacting protein isoform X16 XP_005255265.1:p.Ile516= XP_005255265.1:p.Ile516=
katanin-interacting protein isoform X18 XP_011544079.1:p.Ile291= XP_011544079.1:p.Ile291=
katanin-interacting protein isoform X7 XP_024305984.1:p.Ile922= XP_024305984.1:p.Ile922=
katanin-interacting protein isoform X8 XP_016878574.1:p.Ile901= XP_016878574.1:p.Ile901=
katanin-interacting protein isoform X11 XP_016878576.1:p.Ile879= XP_016878576.1:p.Ile879=
katanin-interacting protein isoform X13 XP_047289800.1:p.Ile762= XP_047289800.1:p.Ile762=
katanin-interacting protein isoform X9 XP_047289798.1:p.Ile900= XP_047289798.1:p.Ile900=
katanin-interacting protein isoform X12 XP_047289799.1:p.Ile857= XP_047289799.1:p.Ile857=
katanin-interacting protein isoform X15 XP_047289801.1:p.Ile549= XP_047289801.1:p.Ile549=
katanin-interacting protein isoform X17 XP_047289802.1:p.Ile944= XP_047289802.1:p.Ile944=
uncharacterized protein KIAA0556 NP_056017.2:p.Ile923= NP_056017.2:p.Ile923=
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 ss2741864024 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000016.9 - 27761050 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
11143479, ss2741864024 NC_000016.9:27761049:C:T NC_000016.10:27749728:C: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 rs1482946210

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