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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.

rs1490743667

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:34685141 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/246352, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF302 : Synonymous 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 246352 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 133322 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 48076 A=0.99998 G=0.00002
gnomAD - Exomes American Sub 33810 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 15434 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9754 A=1.0000 G=0.0000
gnomAD - Exomes Other Sub 5956 A=1.0000 G=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 19 NC_000019.10:g.34685141A>G
GRCh37.p13 chr 19 NC_000019.9:g.35176046A>G
ZNF302 RefSeqGene NG_033997.1:g.12503A>G
Gene: ZNF302, zinc finger protein 302 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF302 transcript variant 13 NM_001289191.2:c.*968= N/A 3 Prime UTR Variant
ZNF302 transcript variant 15 NM_018675.3:c.*968= N/A 3 Prime UTR Variant
ZNF302 transcript variant 14 NM_001289192.2:c.*968= N/A 3 Prime UTR Variant
ZNF302 transcript variant 10 NM_001289188.2:c.*968= N/A 3 Prime UTR Variant
ZNF302 transcript variant 12 NM_001289190.2:c.*968= N/A 3 Prime UTR Variant
ZNF302 transcript variant 11 NM_001289189.2:c.*968= N/A 3 Prime UTR Variant
ZNF302 transcript variant 9 NM_001289187.2:c.1104A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform c NP_001276116.1:p.Lys368= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant 2 NM_001012320.3:c.1104A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform c NP_001012320.1:p.Lys368= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant 3 NM_001289181.2:c.1236A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform a NP_001276110.1:p.Lys412= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant 5 NM_001289183.2:c.1104A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform c NP_001276112.1:p.Lys368= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant 4 NM_001289182.2:c.1107A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform b NP_001276111.1:p.Lys369= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant 7 NM_001289185.2:c.1107A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform b NP_001276114.1:p.Lys369= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant 8 NM_001289186.2:c.1104A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform c NP_001276115.1:p.Lys368= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant 1 NM_018443.4:c.1104A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform c NP_060913.2:p.Lys368= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant 6 NM_001289184.2:c.1107A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform b NP_001276113.1:p.Lys369= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant 16 NR_110322.2:n.1146A>G N/A Non Coding Transcript Variant
ZNF302 transcript variant X12 XM_017026983.2:c.*968= N/A 3 Prime UTR Variant
ZNF302 transcript variant X13 XM_024451606.2:c.*968= N/A 3 Prime UTR Variant
ZNF302 transcript variant X14 XM_017026985.2:c.*968= N/A 3 Prime UTR Variant
ZNF302 transcript variant X15 XM_024451607.2:c.*968= N/A 3 Prime UTR Variant
ZNF302 transcript variant X16 XM_017026986.2:c.*968= N/A 3 Prime UTR Variant
ZNF302 transcript variant X17 XM_011527111.4:c.*968= N/A 3 Prime UTR Variant
ZNF302 transcript variant X1 XM_024451603.2:c.1239A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform X1 XP_024307371.1:p.Lys413= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant X2 XM_017026978.2:c.1239A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform X1 XP_016882467.1:p.Lys413= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant X3 XM_017026979.2:c.1236A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform X2 XP_016882468.1:p.Lys412= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant X4 XM_017026980.3:c.1236A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform X2 XP_016882469.1:p.Lys412= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant X5 XM_017026981.3:c.1236A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform X2 XP_016882470.1:p.Lys412= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant X6 XM_047439093.1:c.1236A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform X2 XP_047295049.1:p.Lys412= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant X7 XM_017026982.2:c.1107A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform X3 XP_016882471.1:p.Lys369= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant X8 XM_047439094.1:c.1107A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform X3 XP_047295050.1:p.Lys369= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant X9 XM_047439095.1:c.1107A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform X3 XP_047295051.1:p.Lys369= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant X10 XM_047439096.1:c.1104A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform X4 XP_047295052.1:p.Lys368= K (Lys) > K (Lys) Synonymous Variant
ZNF302 transcript variant X11 XM_047439097.1:c.1104A>G K [AAA] > K [AAG] Coding Sequence Variant
zinc finger protein 302 isoform X4 XP_047295053.1:p.Lys368= K (Lys) > K (Lys) Synonymous 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 A= G
GRCh38.p14 chr 19 NC_000019.10:g.34685141= NC_000019.10:g.34685141A>G
GRCh37.p13 chr 19 NC_000019.9:g.35176046= NC_000019.9:g.35176046A>G
ZNF302 RefSeqGene NG_033997.1:g.12503= NG_033997.1:g.12503A>G
ZNF302 transcript variant 1 NM_018443.4:c.1104= NM_018443.4:c.1104A>G
ZNF302 transcript variant 1 NM_018443.3:c.1104= NM_018443.3:c.1104A>G
ZNF302 transcript variant 1 NM_018443.2:c.1104= NM_018443.2:c.1104A>G
ZNF302 transcript variant 15 NM_018675.3:c.*968= NM_018675.3:c.*968A>G
ZNF302 transcript variant 15 NM_018675.2:c.*968= NM_018675.2:c.*968A>G
ZNF302 transcript NM_018675.1:c.1341= NM_018675.1:c.1341A>G
ZNF302 transcript variant 2 NM_001012320.3:c.1104= NM_001012320.3:c.1104A>G
ZNF302 transcript variant 2 NM_001012320.2:c.1104= NM_001012320.2:c.1104A>G
ZNF302 transcript variant 2 NM_001012320.1:c.1104= NM_001012320.1:c.1104A>G
ZNF302 transcript variant 10 NM_001289188.2:c.*968= NM_001289188.2:c.*968A>G
ZNF302 transcript variant 10 NM_001289188.1:c.*968= NM_001289188.1:c.*968A>G
ZNF302 transcript variant 11 NM_001289189.2:c.*968= NM_001289189.2:c.*968A>G
ZNF302 transcript variant 11 NM_001289189.1:c.*968= NM_001289189.1:c.*968A>G
ZNF302 transcript variant 14 NM_001289192.2:c.*968= NM_001289192.2:c.*968A>G
ZNF302 transcript variant 14 NM_001289192.1:c.*968= NM_001289192.1:c.*968A>G
ZNF302 transcript variant 4 NM_001289182.2:c.1107= NM_001289182.2:c.1107A>G
ZNF302 transcript variant 4 NM_001289182.1:c.1107= NM_001289182.1:c.1107A>G
ZNF302 transcript variant 9 NM_001289187.2:c.1104= NM_001289187.2:c.1104A>G
ZNF302 transcript variant 9 NM_001289187.1:c.1104= NM_001289187.1:c.1104A>G
ZNF302 transcript variant 13 NM_001289191.2:c.*968= NM_001289191.2:c.*968A>G
ZNF302 transcript variant 13 NM_001289191.1:c.*968= NM_001289191.1:c.*968A>G
ZNF302 transcript variant 12 NM_001289190.2:c.*968= NM_001289190.2:c.*968A>G
ZNF302 transcript variant 12 NM_001289190.1:c.*968= NM_001289190.1:c.*968A>G
ZNF302 transcript variant 3 NM_001289181.2:c.1236= NM_001289181.2:c.1236A>G
ZNF302 transcript variant 3 NM_001289181.1:c.1236= NM_001289181.1:c.1236A>G
ZNF302 transcript variant 6 NM_001289184.2:c.1107= NM_001289184.2:c.1107A>G
ZNF302 transcript variant 6 NM_001289184.1:c.1107= NM_001289184.1:c.1107A>G
ZNF302 transcript variant 7 NM_001289185.2:c.1107= NM_001289185.2:c.1107A>G
ZNF302 transcript variant 7 NM_001289185.1:c.1107= NM_001289185.1:c.1107A>G
ZNF302 transcript variant 5 NM_001289183.2:c.1104= NM_001289183.2:c.1104A>G
ZNF302 transcript variant 5 NM_001289183.1:c.1104= NM_001289183.1:c.1104A>G
ZNF302 transcript variant 8 NM_001289186.2:c.1104= NM_001289186.2:c.1104A>G
ZNF302 transcript variant 8 NM_001289186.1:c.1104= NM_001289186.1:c.1104A>G
ZNF302 transcript variant 16 NR_110322.2:n.1146= NR_110322.2:n.1146A>G
ZNF302 transcript variant 16 NR_110322.1:n.1185= NR_110322.1:n.1185A>G
ZNF302 transcript variant X17 XM_011527111.4:c.*968= XM_011527111.4:c.*968A>G
ZNF302 transcript variant X14 XM_011527111.3:c.*968= XM_011527111.3:c.*968A>G
ZNF302 transcript variant X10 XM_011527111.2:c.*968= XM_011527111.2:c.*968A>G
ZNF302 transcript variant X3 XM_011527111.1:c.*968= XM_011527111.1:c.*968A>G
ZNF302 transcript variant X4 XM_017026980.3:c.1236= XM_017026980.3:c.1236A>G
ZNF302 transcript variant X4 XM_017026980.2:c.1236= XM_017026980.2:c.1236A>G
ZNF302 transcript variant X3 XM_017026980.1:c.1236= XM_017026980.1:c.1236A>G
ZNF302 transcript variant X5 XM_017026981.3:c.1236= XM_017026981.3:c.1236A>G
ZNF302 transcript variant X5 XM_017026981.2:c.1236= XM_017026981.2:c.1236A>G
ZNF302 transcript variant X4 XM_017026981.1:c.1236= XM_017026981.1:c.1236A>G
ZNF302 transcript variant X15 XM_024451607.2:c.*968= XM_024451607.2:c.*968A>G
ZNF302 transcript variant X16 XM_017026986.2:c.*968= XM_017026986.2:c.*968A>G
ZNF302 transcript variant X13 XM_017026986.1:c.*968= XM_017026986.1:c.*968A>G
ZNF302 transcript variant X13 XM_024451606.2:c.*968= XM_024451606.2:c.*968A>G
ZNF302 transcript variant X2 XM_017026978.2:c.1239= XM_017026978.2:c.1239A>G
ZNF302 transcript variant X2 XM_017026978.1:c.1239= XM_017026978.1:c.1239A>G
ZNF302 transcript variant X3 XM_017026979.2:c.1236= XM_017026979.2:c.1236A>G
ZNF302 transcript variant X3 XM_017026979.1:c.1236= XM_017026979.1:c.1236A>G
ZNF302 transcript variant X12 XM_017026983.2:c.*968= XM_017026983.2:c.*968A>G
ZNF302 transcript variant X14 XM_017026985.2:c.*968= XM_017026985.2:c.*968A>G
ZNF302 transcript variant X1 XM_024451603.2:c.1239= XM_024451603.2:c.1239A>G
ZNF302 transcript variant X1 XM_024451603.1:c.1239= XM_024451603.1:c.1239A>G
ZNF302 transcript variant X7 XM_017026982.2:c.1107= XM_017026982.2:c.1107A>G
ZNF302 transcript variant X7 XM_017026982.1:c.1107= XM_017026982.1:c.1107A>G
ZNF302 transcript variant X6 XM_047439093.1:c.1236= XM_047439093.1:c.1236A>G
ZNF302 transcript variant X8 XM_047439094.1:c.1107= XM_047439094.1:c.1107A>G
ZNF302 transcript variant X10 XM_047439096.1:c.1104= XM_047439096.1:c.1104A>G
ZNF302 transcript variant X11 XM_047439097.1:c.1104= XM_047439097.1:c.1104A>G
ZNF302 transcript variant X9 XM_047439095.1:c.1107= XM_047439095.1:c.1107A>G
zinc finger protein 302 isoform c NP_060913.2:p.Lys368= NP_060913.2:p.Lys368=
zinc finger protein 302 isoform c NP_001012320.1:p.Lys368= NP_001012320.1:p.Lys368=
zinc finger protein 302 isoform b NP_001276111.1:p.Lys369= NP_001276111.1:p.Lys369=
zinc finger protein 302 isoform c NP_001276116.1:p.Lys368= NP_001276116.1:p.Lys368=
zinc finger protein 302 isoform a NP_001276110.1:p.Lys412= NP_001276110.1:p.Lys412=
zinc finger protein 302 isoform b NP_001276113.1:p.Lys369= NP_001276113.1:p.Lys369=
zinc finger protein 302 isoform b NP_001276114.1:p.Lys369= NP_001276114.1:p.Lys369=
zinc finger protein 302 isoform c NP_001276112.1:p.Lys368= NP_001276112.1:p.Lys368=
zinc finger protein 302 isoform c NP_001276115.1:p.Lys368= NP_001276115.1:p.Lys368=
zinc finger protein 302 isoform X2 XP_016882469.1:p.Lys412= XP_016882469.1:p.Lys412=
zinc finger protein 302 isoform X2 XP_016882470.1:p.Lys412= XP_016882470.1:p.Lys412=
zinc finger protein 302 isoform X1 XP_016882467.1:p.Lys413= XP_016882467.1:p.Lys413=
zinc finger protein 302 isoform X2 XP_016882468.1:p.Lys412= XP_016882468.1:p.Lys412=
zinc finger protein 302 isoform X1 XP_024307371.1:p.Lys413= XP_024307371.1:p.Lys413=
zinc finger protein 302 isoform X3 XP_016882471.1:p.Lys369= XP_016882471.1:p.Lys369=
zinc finger protein 302 isoform X2 XP_047295049.1:p.Lys412= XP_047295049.1:p.Lys412=
zinc finger protein 302 isoform X3 XP_047295050.1:p.Lys369= XP_047295050.1:p.Lys369=
zinc finger protein 302 isoform X4 XP_047295052.1:p.Lys368= XP_047295052.1:p.Lys368=
zinc finger protein 302 isoform X4 XP_047295053.1:p.Lys368= XP_047295053.1:p.Lys368=
zinc finger protein 302 isoform X3 XP_047295051.1:p.Lys369= XP_047295051.1:p.Lys369=
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 ss2743884549 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000019.9 - 35176046 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
13198208, ss2743884549 NC_000019.9:35176045:A:G NC_000019.10:34685140:A: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 rs1490743667

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