Name: rs1490997996
Published: September 21, 2022
License: Open Access

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.

rs1490997996

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:76706991-76706996 (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: delTTG
Variation Type: Indel Insertion and Deletion
Frequency: delTTG=0.000004 (1/248584, GnomAD_exome)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PRUNE2 : Inframe Deletion
Publications: 0 citations
Genomic View: See rs on genome

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD - Exomes	Global	Study-wide	248584	(TTG)₂=0.999996	delTTG=0.000004
gnomAD - Exomes	European	Sub	133988	(TTG)₂=1.000000	delTTG=0.000000
gnomAD - Exomes	Asian	Sub	48562	(TTG)₂=0.99998	delTTG=0.00002
gnomAD - Exomes	American	Sub	34520	(TTG)₂=1.00000	delTTG=0.00000
gnomAD - Exomes	African	Sub	15430	(TTG)₂=1.00000	delTTG=0.00000
gnomAD - Exomes	Ashkenazi Jewish	Sub	10036	(TTG)₂=1.00000	delTTG=0.00000
gnomAD - Exomes	Other	Sub	6048	(TTG)₂=1.0000	delTTG=0.0000

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 9	NC_000009.12:g.76706991TTG[1]
GRCh37.p13 chr 9	NC_000009.11:g.79321907TTG[1]

Gene: PRUNE2, prune homolog 2 with BCH domain (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRUNE2 transcript variant 4	NM_001308049.2:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant 5	NM_001308050.2:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant 6	NM_001308051.2:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant 8	NM_001330680.2:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant 1	NM_015225.3:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform 1	NP_056040.2:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant 3	NM_001308048.2:c.5278CAA[… NM_001308048.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform 3	NP_001294977.1:p.Gln1761d… NP_001294977.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant 2	NM_001308047.2:c.5278CAA[… NM_001308047.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform 2	NP_001294976.1:p.Gln1761d… NP_001294976.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant 7	NR_131751.2:n.5226CAA[1]	N/A	Non Coding Transcript Variant
PRUNE2 transcript variant X31	XM_017014354.3:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant X32	XM_017014356.3:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant X33	XM_017014357.3:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant X34	XM_017014359.3:c.	N/A	Genic Upstream Transcript Variant
PRUNE2 transcript variant X1	XM_006716982.2:c.5278CAA[… XM_006716982.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X1	XP_006717045.1:p.Gln1761d… XP_006717045.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X2	XM_006716983.2:c.5278CAA[… XM_006716983.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X2	XP_006717046.1:p.Gln1761d… XP_006717046.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X3	XM_006716985.2:c.5278CAA[… XM_006716985.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X3	XP_006717048.1:p.Gln1761d… XP_006717048.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X4	XM_047422876.1:c.5278CAA[… XM_047422876.1:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X4	XP_047278832.1:p.Gln1761d… XP_047278832.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X5	XM_006716984.3:c.5278CAA[… XM_006716984.3:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X4	XP_006717047.1:p.Gln1761d… XP_006717047.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X6	XM_006716986.2:c.5278CAA[… XM_006716986.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X5	XP_006717049.1:p.Gln1761d… XP_006717049.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X7	XM_005251745.2:c.5278CAA[… XM_005251745.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X6	XP_005251802.1:p.Gln1761d… XP_005251802.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X8	XM_005251746.2:c.5278CAA[… XM_005251746.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X7	XP_005251803.1:p.Gln1761d… XP_005251803.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X9	XM_005251748.2:c.5278CAA[… XM_005251748.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X8	XP_005251805.1:p.Gln1761d… XP_005251805.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X10	XM_011518323.3:c.5278CAA[… XM_011518323.3:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X9	XP_011516625.1:p.Gln1761d… XP_011516625.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X11	XM_005251750.2:c.5278CAA[… XM_005251750.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X10	XP_005251807.1:p.Gln1761d… XP_005251807.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X12	XM_047422878.1:c.5278CAA[… XM_047422878.1:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X11	XP_047278834.1:p.Gln1761d… XP_047278834.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X13	XM_017014346.2:c.5278CAA[… XM_017014346.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X12	XP_016869835.1:p.Gln1761d… XP_016869835.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X14	XM_047422879.1:c.5278CAA[… XM_047422879.1:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X13	XP_047278835.1:p.Gln1761d… XP_047278835.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X15	XM_011518326.3:c.5278CAA[… XM_011518326.3:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X13	XP_011516628.1:p.Gln1761d… XP_011516628.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X16	XM_011518327.2:c.5278CAA[… XM_011518327.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X14	XP_011516629.1:p.Gln1761d… XP_011516629.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X17	XM_047422880.1:c.5278CAA[… XM_047422880.1:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X15	XP_047278836.1:p.Gln1761d… XP_047278836.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X18	XM_017014348.2:c.5278CAA[… XM_017014348.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X16	XP_016869837.1:p.Gln1761d… XP_016869837.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X19	XM_017014349.2:c.5278CAA[… XM_017014349.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X17	XP_016869838.1:p.Gln1761d… XP_016869838.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X20	XM_005251751.2:c.5278CAA[… XM_005251751.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X18	XP_005251808.1:p.Gln1761d… XP_005251808.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X21	XM_017014351.2:c.5278CAA[… XM_017014351.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X19	XP_016869840.1:p.Gln1761d… XP_016869840.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X22	XM_047422881.1:c.5278CAA[… XM_047422881.1:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X20	XP_047278837.1:p.Gln1761d… XP_047278837.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X23	XM_011518328.3:c.5278CAA[… XM_011518328.3:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X20	XP_011516630.1:p.Gln1761d… XP_011516630.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X24	XM_017014352.2:c.5278CAA[… XM_017014352.2:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X21	XP_016869841.1:p.Gln1761d… XP_016869841.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X25	XM_017014353.3:c.5278CAA[… XM_017014353.3:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X22	XP_016869842.1:p.Gln1761d… XP_016869842.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X26	XM_005251754.3:c.5278CAA[… XM_005251754.3:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X23	XP_005251811.1:p.Gln1761d… XP_005251811.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X27	XM_047422882.1:c.5278CAA[… XM_047422882.1:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X24	XP_047278838.1:p.Gln1761d… XP_047278838.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X28	XM_047422883.1:c.5278CAA[… XM_047422883.1:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X24	XP_047278839.1:p.Gln1761d… XP_047278839.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X29	XM_047422884.1:c.5278CAA[… XM_047422884.1:c.5278CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X25	XP_047278840.1:p.Gln1761d… XP_047278840.1:p.Gln1761del	QQ (GlnGln) > Q (Gln)	Inframe Deletion
PRUNE2 transcript variant X30	XM_047422885.1:c.4750CAA[… XM_047422885.1:c.4750CAA[1]	QQ [CAA] > Q []	Coding Sequence Variant
protein prune homolog 2 isoform X26	XP_047278841.1:p.Gln1585d… XP_047278841.1:p.Gln1585del	QQ (GlnGln) > Q (Gln)	Inframe Deletion

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

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	(TTG)₂=	delTTG
GRCh38.p14 chr 9	NC_000009.12:g.76706991_76706996=	NC_000009.12:g.76706991TTG[1]
GRCh37.p13 chr 9	NC_000009.11:g.79321907_79321912=	NC_000009.11:g.79321907TTG[1]
PRUNE2 transcript variant X5	XM_006716984.3:c.5278_5283=	XM_006716984.3:c.5278CAA[1]
PRUNE2 transcript variant X4	XM_006716984.2:c.5278_5283=	XM_006716984.2:c.5278CAA[1]
PRUNE2 transcript variant X3	XM_006716984.1:c.5278_5283=	XM_006716984.1:c.5278CAA[1]
PRUNE2 transcript variant X15	XM_011518326.3:c.5278_5283=	XM_011518326.3:c.5278CAA[1]
PRUNE2 transcript variant X16	XM_011518326.2:c.5278_5283=	XM_011518326.2:c.5278CAA[1]
PRUNE2 transcript variant X14	XM_011518326.1:c.5278_5283=	XM_011518326.1:c.5278CAA[1]
PRUNE2 transcript variant X23	XM_011518328.3:c.5278_5283=	XM_011518328.3:c.5278CAA[1]
PRUNE2 transcript variant X24	XM_011518328.2:c.5278_5283=	XM_011518328.2:c.5278CAA[1]
PRUNE2 transcript variant X17	XM_011518328.1:c.5278_5283=	XM_011518328.1:c.5278CAA[1]
PRUNE2 transcript variant X10	XM_011518323.3:c.5278_5283=	XM_011518323.3:c.5278CAA[1]
PRUNE2 transcript variant X11	XM_011518323.2:c.5278_5283=	XM_011518323.2:c.5278CAA[1]
PRUNE2 transcript variant X11	XM_011518323.1:c.5278_5283=	XM_011518323.1:c.5278CAA[1]
PRUNE2 transcript variant 1	NM_015225.3:c.5278_5283=	NM_015225.3:c.5278CAA[1]
PRUNE2 transcript variant 1	NM_015225.2:c.5278_5283=	NM_015225.2:c.5278CAA[1]
PRUNE2 transcript variant X26	XM_005251754.3:c.5278_5283=	XM_005251754.3:c.5278CAA[1]
PRUNE2 transcript variant X28	XM_005251754.2:c.5278_5283=	XM_005251754.2:c.5278CAA[1]
PRUNE2 transcript variant X28	XM_005251754.1:c.5278_5283=	XM_005251754.1:c.5278CAA[1]
PRUNE2 transcript variant X25	XM_017014353.3:c.5278_5283=	XM_017014353.3:c.5278CAA[1]
PRUNE2 transcript variant X27	XM_017014353.2:c.5278_5283=	XM_017014353.2:c.5278CAA[1]
PRUNE2 transcript variant X27	XM_017014353.1:c.5278_5283=	XM_017014353.1:c.5278CAA[1]
PRUNE2 transcript variant X1	XM_006716982.2:c.5278_5283=	XM_006716982.2:c.5278CAA[1]
PRUNE2 transcript variant X1	XM_006716982.1:c.5278_5283=	XM_006716982.1:c.5278CAA[1]
PRUNE2 transcript variant X2	XM_006716983.2:c.5278_5283=	XM_006716983.2:c.5278CAA[1]
PRUNE2 transcript variant X2	XM_006716983.1:c.5278_5283=	XM_006716983.1:c.5278CAA[1]
PRUNE2 transcript variant X3	XM_006716985.2:c.5278_5283=	XM_006716985.2:c.5278CAA[1]
PRUNE2 transcript variant X5	XM_006716985.1:c.5278_5283=	XM_006716985.1:c.5278CAA[1]
PRUNE2 transcript variant X6	XM_006716986.2:c.5278_5283=	XM_006716986.2:c.5278CAA[1]
PRUNE2 transcript variant X6	XM_006716986.1:c.5278_5283=	XM_006716986.1:c.5278CAA[1]
PRUNE2 transcript variant X7	XM_005251745.2:c.5278_5283=	XM_005251745.2:c.5278CAA[1]
PRUNE2 transcript variant X7	XM_005251745.1:c.5278_5283=	XM_005251745.1:c.5278CAA[1]
PRUNE2 transcript variant X8	XM_005251746.2:c.5278_5283=	XM_005251746.2:c.5278CAA[1]
PRUNE2 transcript variant X8	XM_005251746.1:c.5278_5283=	XM_005251746.1:c.5278CAA[1]
PRUNE2 transcript variant X9	XM_005251748.2:c.5278_5283=	XM_005251748.2:c.5278CAA[1]
PRUNE2 transcript variant X10	XM_005251748.1:c.5278_5283=	XM_005251748.1:c.5278CAA[1]
PRUNE2 transcript variant X11	XM_005251750.2:c.5278_5283=	XM_005251750.2:c.5278CAA[1]
PRUNE2 transcript variant X13	XM_005251750.1:c.5278_5283=	XM_005251750.1:c.5278CAA[1]
PRUNE2 transcript variant X13	XM_017014346.2:c.5278_5283=	XM_017014346.2:c.5278CAA[1]
PRUNE2 transcript variant X14	XM_017014346.1:c.5278_5283=	XM_017014346.1:c.5278CAA[1]
PRUNE2 transcript variant X16	XM_011518327.2:c.5278_5283=	XM_011518327.2:c.5278CAA[1]
PRUNE2 transcript variant X17	XM_011518327.1:c.5278_5283=	XM_011518327.1:c.5278CAA[1]
PRUNE2 transcript variant X18	XM_017014348.2:c.5278_5283=	XM_017014348.2:c.5278CAA[1]
PRUNE2 transcript variant X19	XM_017014348.1:c.5278_5283=	XM_017014348.1:c.5278CAA[1]
PRUNE2 transcript variant X19	XM_017014349.2:c.5278_5283=	XM_017014349.2:c.5278CAA[1]
PRUNE2 transcript variant X21	XM_017014349.1:c.5278_5283=	XM_017014349.1:c.5278CAA[1]
PRUNE2 transcript variant X20	XM_005251751.2:c.5278_5283=	XM_005251751.2:c.5278CAA[1]
PRUNE2 transcript variant X20	XM_005251751.1:c.5278_5283=	XM_005251751.1:c.5278CAA[1]
PRUNE2 transcript variant X21	XM_017014351.2:c.5278_5283=	XM_017014351.2:c.5278CAA[1]
PRUNE2 transcript variant X25	XM_017014351.1:c.5278_5283=	XM_017014351.1:c.5278CAA[1]
PRUNE2 transcript variant X24	XM_017014352.2:c.5278_5283=	XM_017014352.2:c.5278CAA[1]
PRUNE2 transcript variant X26	XM_017014352.1:c.5278_5283=	XM_017014352.1:c.5278CAA[1]
PRUNE2 transcript variant 3	NM_001308048.2:c.5278_5283=	NM_001308048.2:c.5278CAA[1]
PRUNE2 transcript variant 3	NM_001308048.1:c.5278_5283=	NM_001308048.1:c.5278CAA[1]
PRUNE2 transcript variant 2	NM_001308047.2:c.5278_5283=	NM_001308047.2:c.5278CAA[1]
PRUNE2 transcript variant 2	NM_001308047.1:c.5278_5283=	NM_001308047.1:c.5278CAA[1]
PRUNE2 transcript variant 7	NR_131751.2:n.5226_5231=	NR_131751.2:n.5226CAA[1]
PRUNE2 transcript variant 7	NR_131751.1:n.5199_5204=	NR_131751.1:n.5199CAA[1]
PRUNE2 transcript variant X17	XM_047422880.1:c.5278_5283=	XM_047422880.1:c.5278CAA[1]
PRUNE2 transcript variant X30	XM_047422885.1:c.4750_4755=	XM_047422885.1:c.4750CAA[1]
PRUNE2 transcript variant X28	XM_047422883.1:c.5278_5283=	XM_047422883.1:c.5278CAA[1]
PRUNE2 transcript variant X29	XM_047422884.1:c.5278_5283=	XM_047422884.1:c.5278CAA[1]
PRUNE2 transcript variant X4	XM_047422876.1:c.5278_5283=	XM_047422876.1:c.5278CAA[1]
PRUNE2 transcript variant X12	XM_047422878.1:c.5278_5283=	XM_047422878.1:c.5278CAA[1]
PRUNE2 transcript variant X14	XM_047422879.1:c.5278_5283=	XM_047422879.1:c.5278CAA[1]
PRUNE2 transcript variant X22	XM_047422881.1:c.5278_5283=	XM_047422881.1:c.5278CAA[1]
PRUNE2 transcript variant X27	XM_047422882.1:c.5278_5283=	XM_047422882.1:c.5278CAA[1]
protein prune homolog 2 isoform X4	XP_006717047.1:p.Gln1760_Gln1761=	XP_006717047.1:p.Gln1761del
protein prune homolog 2 isoform X13	XP_011516628.1:p.Gln1760_Gln1761=	XP_011516628.1:p.Gln1761del
protein prune homolog 2 isoform X20	XP_011516630.1:p.Gln1760_Gln1761=	XP_011516630.1:p.Gln1761del
protein prune homolog 2 isoform X9	XP_011516625.1:p.Gln1760_Gln1761=	XP_011516625.1:p.Gln1761del
protein prune homolog 2 isoform 1	NP_056040.2:p.Gln1760_Gln1761=	NP_056040.2:p.Gln1761del
protein prune homolog 2 isoform X23	XP_005251811.1:p.Gln1760_Gln1761=	XP_005251811.1:p.Gln1761del
protein prune homolog 2 isoform X22	XP_016869842.1:p.Gln1760_Gln1761=	XP_016869842.1:p.Gln1761del
protein prune homolog 2 isoform X1	XP_006717045.1:p.Gln1760_Gln1761=	XP_006717045.1:p.Gln1761del
protein prune homolog 2 isoform X2	XP_006717046.1:p.Gln1760_Gln1761=	XP_006717046.1:p.Gln1761del
protein prune homolog 2 isoform X3	XP_006717048.1:p.Gln1760_Gln1761=	XP_006717048.1:p.Gln1761del
protein prune homolog 2 isoform X5	XP_006717049.1:p.Gln1760_Gln1761=	XP_006717049.1:p.Gln1761del
protein prune homolog 2 isoform X6	XP_005251802.1:p.Gln1760_Gln1761=	XP_005251802.1:p.Gln1761del
protein prune homolog 2 isoform X7	XP_005251803.1:p.Gln1760_Gln1761=	XP_005251803.1:p.Gln1761del
protein prune homolog 2 isoform X8	XP_005251805.1:p.Gln1760_Gln1761=	XP_005251805.1:p.Gln1761del
protein prune homolog 2 isoform X10	XP_005251807.1:p.Gln1760_Gln1761=	XP_005251807.1:p.Gln1761del
protein prune homolog 2 isoform X12	XP_016869835.1:p.Gln1760_Gln1761=	XP_016869835.1:p.Gln1761del
protein prune homolog 2 isoform X14	XP_011516629.1:p.Gln1760_Gln1761=	XP_011516629.1:p.Gln1761del
protein prune homolog 2 isoform X16	XP_016869837.1:p.Gln1760_Gln1761=	XP_016869837.1:p.Gln1761del
protein prune homolog 2 isoform X17	XP_016869838.1:p.Gln1760_Gln1761=	XP_016869838.1:p.Gln1761del
protein prune homolog 2 isoform X18	XP_005251808.1:p.Gln1760_Gln1761=	XP_005251808.1:p.Gln1761del
protein prune homolog 2 isoform X19	XP_016869840.1:p.Gln1760_Gln1761=	XP_016869840.1:p.Gln1761del
protein prune homolog 2 isoform X21	XP_016869841.1:p.Gln1760_Gln1761=	XP_016869841.1:p.Gln1761del
protein prune homolog 2 isoform 3	NP_001294977.1:p.Gln1760_Gln1761=	NP_001294977.1:p.Gln1761del
protein prune homolog 2 isoform 2	NP_001294976.1:p.Gln1760_Gln1761=	NP_001294976.1:p.Gln1761del
protein prune homolog 2 isoform X15	XP_047278836.1:p.Gln1760_Gln1761=	XP_047278836.1:p.Gln1761del
protein prune homolog 2 isoform X26	XP_047278841.1:p.Gln1584_Gln1585=	XP_047278841.1:p.Gln1585del
protein prune homolog 2 isoform X24	XP_047278839.1:p.Gln1760_Gln1761=	XP_047278839.1:p.Gln1761del
protein prune homolog 2 isoform X25	XP_047278840.1:p.Gln1760_Gln1761=	XP_047278840.1:p.Gln1761del
protein prune homolog 2 isoform X4	XP_047278832.1:p.Gln1760_Gln1761=	XP_047278832.1:p.Gln1761del
protein prune homolog 2 isoform X11	XP_047278834.1:p.Gln1760_Gln1761=	XP_047278834.1:p.Gln1761del
protein prune homolog 2 isoform X13	XP_047278835.1:p.Gln1760_Gln1761=	XP_047278835.1:p.Gln1761del
protein prune homolog 2 isoform X20	XP_047278837.1:p.Gln1760_Gln1761=	XP_047278837.1:p.Gln1761del
protein prune homolog 2 isoform X24	XP_047278838.1:p.Gln1760_Gln1761=	XP_047278838.1:p.Gln1761del

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	ss2737656597	Nov 08, 2017 (151)
2	gnomAD - Exomes	NC_000009.11 - 79321907	Jul 13, 2019 (153)

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
6838475, ss2737656597	NC_000009.11:79321906:TTG:	NC_000009.12:76706990:TTGTTG:TTG	(self)

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

No publications for rs1490997996

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1490997996