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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.

rs1491104182

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:142123411-142123412 (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
delGC
Variation Type
Deletion
Frequency
delGC=0.0002 (1/4480, Estonian)
delGC=0.0000 (0/4470, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
INPP4B : Frameshift Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 4470 GC=1.0000 =0.0000 1.0 0.0 0.0 N/A
European Sub 4462 GC=1.0000 =0.0000 1.0 0.0 0.0 N/A
African Sub 0 GC=0 =0 0 0 0 N/A
African Others Sub 0 GC=0 =0 0 0 0 N/A
African American Sub 0 GC=0 =0 0 0 0 N/A
Asian Sub 0 GC=0 =0 0 0 0 N/A
East Asian Sub 0 GC=0 =0 0 0 0 N/A
Other Asian Sub 0 GC=0 =0 0 0 0 N/A
Latin American 1 Sub 0 GC=0 =0 0 0 0 N/A
Latin American 2 Sub 0 GC=0 =0 0 0 0 N/A
South Asian Sub 0 GC=0 =0 0 0 0 N/A
Other Sub 8 GC=1.0 =0.0 1.0 0.0 0.0 N/A


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
Genetic variation in the Estonian population Estonian Study-wide 4480 GC=0.9998 delGC=0.0002
Allele Frequency Aggregator Total Global 4470 GC=1.0000 delGC=0.0000
Allele Frequency Aggregator European Sub 4462 GC=1.0000 delGC=0.0000
Allele Frequency Aggregator Other Sub 8 GC=1.0 delGC=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 GC=0 delGC=0
Allele Frequency Aggregator Latin American 2 Sub 0 GC=0 delGC=0
Allele Frequency Aggregator South Asian Sub 0 GC=0 delGC=0
Allele Frequency Aggregator African Sub 0 GC=0 delGC=0
Allele Frequency Aggregator Asian Sub 0 GC=0 delGC=0
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 4 NC_000004.12:g.142123411_142123412del
GRCh37.p13 chr 4 NC_000004.11:g.143044564_143044565del
Gene: INPP4B, inositol polyphosphate-4-phosphatase type II B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
INPP4B transcript variant 7 NM_001385337.1:c.1720+224…

NM_001385337.1:c.1720+22428_1720+22429del

N/A Intron Variant
INPP4B transcript variant 10 NM_001385340.1:c.1720+224…

NM_001385340.1:c.1720+22428_1720+22429del

N/A Intron Variant
INPP4B transcript variant 36 NM_001385454.1:c.1165+224…

NM_001385454.1:c.1165+22428_1165+22429del

N/A Intron Variant
INPP4B transcript variant 3 NM_001331040.1:c.1897_189…

NM_001331040.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 2 NP_001317969.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 1 NM_003866.3:c.1897_1898del A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 1 NP_003857.2:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 2 NM_001101669.3:c.1897_189…

NM_001101669.3:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001095139.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 16 NM_001385348.1:c.1897_189…

NM_001385348.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 4 NP_001372277.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 15 NM_001385347.1:c.1897_189…

NM_001385347.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 4 NP_001372276.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 14 NM_001385344.1:c.1897_189…

NM_001385344.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001372273.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 6 NM_001385336.1:c.1897_189…

NM_001385336.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001372265.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 17 NM_001385350.1:c.1342_134…

NM_001385350.1:c.1342_1343del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 10 NP_001372279.1:p.Ala448fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 20 NM_001385362.1:c.1138_113…

NM_001385362.1:c.1138_1139del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 18 NP_001372291.1:p.Ala380fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 24 NM_001385382.1:c.1342_134…

NM_001385382.1:c.1342_1343del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 9 NP_001372311.1:p.Ala448fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 5 NM_001385335.1:c.1897_189…

NM_001385335.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 2 NP_001372264.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 9 NM_001385339.1:c.1924_192…

NM_001385339.1:c.1924_1925del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 3 NP_001372268.1:p.Ala642fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 19 NM_001385357.1:c.1138_113…

NM_001385357.1:c.1138_1139del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 17 NP_001372286.1:p.Ala380fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 21 NM_001385379.1:c.1342_134…

NM_001385379.1:c.1342_1343del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 10 NP_001372308.1:p.Ala448fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 8 NM_001385338.1:c.1897_189…

NM_001385338.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001372267.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 12 NM_001385342.1:c.1897_189…

NM_001385342.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001372271.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 11 NM_001385341.1:c.1897_189…

NM_001385341.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001372270.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 25 NM_001385383.1:c.1342_134…

NM_001385383.1:c.1342_1343del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 10 NP_001372312.1:p.Ala448fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 18 NM_001385351.1:c.1492_149…

NM_001385351.1:c.1492_1493del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 6 NP_001372280.1:p.Ala498fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 13 NM_001385343.1:c.1924_192…

NM_001385343.1:c.1924_1925del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 3 NP_001372272.1:p.Ala642fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 23 NM_001385381.1:c.1342_134…

NM_001385381.1:c.1342_1343del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 11 NP_001372310.1:p.Ala448fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 22 NM_001385380.1:c.1342_134…

NM_001385380.1:c.1342_1343del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 13 NP_001372309.1:p.Ala448fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 37 NM_001385455.1:c.1369_137…

NM_001385455.1:c.1369_1370del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 8 NP_001372384.1:p.Ala457fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 43 NM_001385461.1:c.1342_134…

NM_001385461.1:c.1342_1343del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 10 NP_001372390.1:p.Ala448fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 40 NM_001385458.1:c.1138_113…

NM_001385458.1:c.1138_1139del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 17 NP_001372387.1:p.Ala380fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 41 NM_001385459.1:c.1342_134…

NM_001385459.1:c.1342_1343del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 7 NP_001372388.1:p.Ala448fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 4 NM_001385334.1:c.1897_189…

NM_001385334.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001372263.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 39 NM_001385457.1:c.1342_134…

NM_001385457.1:c.1342_1343del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 10 NP_001372386.1:p.Ala448fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 33 NM_001385450.1:c.1165_116…

NM_001385450.1:c.1165_1166del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 15 NP_001372379.1:p.Ala389fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 42 NM_001385460.1:c.1510_151…

NM_001385460.1:c.1510_1511del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 5 NP_001372389.1:p.Ala504fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 34 NM_001385452.1:c.1153_115…

NM_001385452.1:c.1153_1154del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform 16 NP_001372381.1:p.Ala385fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant 26 NR_169599.1:n.2006_2007del N/A Non Coding Transcript Variant
INPP4B transcript variant 31 NR_169618.1:n.1839_1840del N/A Non Coding Transcript Variant
INPP4B transcript variant 38 NR_169624.1:n.1795_1796del N/A Non Coding Transcript Variant
INPP4B transcript variant 30 NR_169617.1:n.1999_2000del N/A Non Coding Transcript Variant
INPP4B transcript variant 35 NR_169623.1:n.1861_1862del N/A Non Coding Transcript Variant
INPP4B transcript variant 27 NR_169614.1:n.1887_1888del N/A Non Coding Transcript Variant
INPP4B transcript variant 28 NR_169615.1:n.2239_2240del N/A Non Coding Transcript Variant
INPP4B transcript variant 32 NR_169619.1:n.1883_1884del N/A Non Coding Transcript Variant
INPP4B transcript variant 29 NR_169616.1:n.1779_1780del N/A Non Coding Transcript Variant
INPP4B transcript variant X18 XM_047416366.1:c. N/A Genic Downstream Transcript Variant
INPP4B transcript variant X19 XM_047416367.1:c. N/A Genic Downstream Transcript Variant
INPP4B transcript variant X20 XM_047416368.1:c. N/A Genic Downstream Transcript Variant
INPP4B transcript variant X1 XM_011532391.3:c.1924_192…

XM_011532391.3:c.1924_1925del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X1 XP_011530693.1:p.Ala642fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X2 XM_024454273.2:c.1924_192…

XM_024454273.2:c.1924_1925del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X1 XP_024310041.1:p.Ala642fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X3 XM_047416352.1:c.1897_189…

XM_047416352.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X2 XP_047272308.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X4 XM_047416353.1:c.1897_189…

XM_047416353.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X2 XP_047272309.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X5 XM_047416354.1:c.1897_189…

XM_047416354.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X2 XP_047272310.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X6 XM_024454274.2:c.1897_189…

XM_024454274.2:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X2 XP_024310042.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X7 XM_047416356.1:c.1897_189…

XM_047416356.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X3 XP_047272312.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X8 XM_047416357.1:c.1897_189…

XM_047416357.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X3 XP_047272313.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X9 XM_047416358.1:c.1897_189…

XM_047416358.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X3 XP_047272314.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X10 XM_047416359.1:c.1897_189…

XM_047416359.1:c.1897_1898del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X3 XP_047272315.1:p.Ala633fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X11 XM_047416360.1:c.1720_172…

XM_047416360.1:c.1720_1721del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X4 XP_047272316.1:p.Ala574fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X12 XM_047416361.1:c.1693_169…

XM_047416361.1:c.1693_1694del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X5 XP_047272317.1:p.Ala565fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X13 XM_047416362.1:c.1693_169…

XM_047416362.1:c.1693_1694del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X5 XP_047272318.1:p.Ala565fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X14 XM_017008797.2:c.1606_160…

XM_017008797.2:c.1606_1607del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X6 XP_016864286.1:p.Ala536fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X15 XM_047416363.1:c.1537_153…

XM_047416363.1:c.1537_1538del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X7 XP_047272319.1:p.Ala513fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X16 XM_017008798.2:c.1369_137…

XM_017008798.2:c.1369_1370del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X8 XP_016864287.1:p.Ala457fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X17 XM_047416365.1:c.1924_192…

XM_047416365.1:c.1924_1925del

A [GC] > W [T] Coding Sequence Variant
inositol polyphosphate 4-phosphatase type II isoform X9 XP_047272321.1:p.Ala642fs A (Ala) > W (Trp) Frameshift Variant
INPP4B transcript variant X21 XR_007057981.1:n. N/A Genic Downstream 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 GC= delGC
GRCh38.p14 chr 4 NC_000004.12:g.142123411_142123412= NC_000004.12:g.142123411_142123412del
GRCh37.p13 chr 4 NC_000004.11:g.143044564_143044565= NC_000004.11:g.143044564_143044565del
INPP4B transcript variant 1 NM_003866.3:c.1897_1898= NM_003866.3:c.1897_1898del
INPP4B transcript variant 1 NM_003866.2:c.1897_1898= NM_003866.2:c.1897_1898del
INPP4B transcript variant 2 NM_001101669.3:c.1897_1898= NM_001101669.3:c.1897_1898del
INPP4B transcript variant 2 NM_001101669.2:c.1897_1898= NM_001101669.2:c.1897_1898del
INPP4B transcript variant 2 NM_001101669.1:c.1897_1898= NM_001101669.1:c.1897_1898del
INPP4B transcript variant X1 XM_011532391.3:c.1924_1925= XM_011532391.3:c.1924_1925del
INPP4B transcript variant X1 XM_011532391.2:c.1924_1925= XM_011532391.2:c.1924_1925del
INPP4B transcript variant X2 XM_011532391.1:c.1924_1925= XM_011532391.1:c.1924_1925del
INPP4B transcript variant X6 XM_024454274.2:c.1897_1898= XM_024454274.2:c.1897_1898del
INPP4B transcript variant X3 XM_024454274.1:c.1897_1898= XM_024454274.1:c.1897_1898del
INPP4B transcript variant X2 XM_024454273.2:c.1924_1925= XM_024454273.2:c.1924_1925del
INPP4B transcript variant X2 XM_024454273.1:c.1924_1925= XM_024454273.1:c.1924_1925del
INPP4B transcript variant X14 XM_017008797.2:c.1606_1607= XM_017008797.2:c.1606_1607del
INPP4B transcript variant X8 XM_017008797.1:c.1606_1607= XM_017008797.1:c.1606_1607del
INPP4B transcript variant X16 XM_017008798.2:c.1369_1370= XM_017008798.2:c.1369_1370del
INPP4B transcript variant X10 XM_017008798.1:c.1369_1370= XM_017008798.1:c.1369_1370del
INPP4B transcript variant 16 NM_001385348.1:c.1897_1898= NM_001385348.1:c.1897_1898del
INPP4B transcript variant X10 XM_047416359.1:c.1897_1898= XM_047416359.1:c.1897_1898del
INPP4B transcript variant X7 XM_047416356.1:c.1897_1898= XM_047416356.1:c.1897_1898del
INPP4B transcript variant 14 NM_001385344.1:c.1897_1898= NM_001385344.1:c.1897_1898del
INPP4B transcript variant 15 NM_001385347.1:c.1897_1898= NM_001385347.1:c.1897_1898del
INPP4B transcript variant 9 NM_001385339.1:c.1924_1925= NM_001385339.1:c.1924_1925del
INPP4B transcript variant 6 NM_001385336.1:c.1897_1898= NM_001385336.1:c.1897_1898del
INPP4B transcript variant 8 NM_001385338.1:c.1897_1898= NM_001385338.1:c.1897_1898del
INPP4B transcript variant 4 NM_001385334.1:c.1897_1898= NM_001385334.1:c.1897_1898del
INPP4B transcript variant 13 NM_001385343.1:c.1924_1925= NM_001385343.1:c.1924_1925del
INPP4B transcript variant 11 NM_001385341.1:c.1897_1898= NM_001385341.1:c.1897_1898del
INPP4B transcript variant X8 XM_047416357.1:c.1897_1898= XM_047416357.1:c.1897_1898del
INPP4B transcript variant 28 NR_169615.1:n.2239_2240= NR_169615.1:n.2239_2240del
INPP4B transcript variant 12 NM_001385342.1:c.1897_1898= NM_001385342.1:c.1897_1898del
INPP4B transcript variant X13 XM_047416362.1:c.1693_1694= XM_047416362.1:c.1693_1694del
INPP4B transcript variant X9 XM_047416358.1:c.1897_1898= XM_047416358.1:c.1897_1898del
INPP4B transcript variant X11 XM_047416360.1:c.1720_1721= XM_047416360.1:c.1720_1721del
INPP4B transcript variant X12 XM_047416361.1:c.1693_1694= XM_047416361.1:c.1693_1694del
INPP4B transcript variant 21 NM_001385379.1:c.1342_1343= NM_001385379.1:c.1342_1343del
INPP4B transcript variant 18 NM_001385351.1:c.1492_1493= NM_001385351.1:c.1492_1493del
INPP4B transcript variant 26 NR_169599.1:n.2006_2007= NR_169599.1:n.2006_2007del
INPP4B transcript variant 30 NR_169617.1:n.1999_2000= NR_169617.1:n.1999_2000del
INPP4B transcript variant 34 NM_001385452.1:c.1153_1154= NM_001385452.1:c.1153_1154del
INPP4B transcript variant 22 NM_001385380.1:c.1342_1343= NM_001385380.1:c.1342_1343del
INPP4B transcript variant 37 NM_001385455.1:c.1369_1370= NM_001385455.1:c.1369_1370del
INPP4B transcript variant 24 NM_001385382.1:c.1342_1343= NM_001385382.1:c.1342_1343del
INPP4B transcript variant 32 NR_169619.1:n.1883_1884= NR_169619.1:n.1883_1884del
INPP4B transcript variant 27 NR_169614.1:n.1887_1888= NR_169614.1:n.1887_1888del
INPP4B transcript variant 25 NM_001385383.1:c.1342_1343= NM_001385383.1:c.1342_1343del
INPP4B transcript variant 23 NM_001385381.1:c.1342_1343= NM_001385381.1:c.1342_1343del
INPP4B transcript variant 35 NR_169623.1:n.1861_1862= NR_169623.1:n.1861_1862del
INPP4B transcript variant 17 NM_001385350.1:c.1342_1343= NM_001385350.1:c.1342_1343del
INPP4B transcript variant 31 NR_169618.1:n.1839_1840= NR_169618.1:n.1839_1840del
INPP4B transcript variant 20 NM_001385362.1:c.1138_1139= NM_001385362.1:c.1138_1139del
INPP4B transcript variant 38 NR_169624.1:n.1795_1796= NR_169624.1:n.1795_1796del
INPP4B transcript variant 29 NR_169616.1:n.1779_1780= NR_169616.1:n.1779_1780del
INPP4B transcript variant 43 NM_001385461.1:c.1342_1343= NM_001385461.1:c.1342_1343del
INPP4B transcript variant 33 NM_001385450.1:c.1165_1166= NM_001385450.1:c.1165_1166del
INPP4B transcript variant 19 NM_001385357.1:c.1138_1139= NM_001385357.1:c.1138_1139del
INPP4B transcript variant 39 NM_001385457.1:c.1342_1343= NM_001385457.1:c.1342_1343del
INPP4B transcript variant 40 NM_001385458.1:c.1138_1139= NM_001385458.1:c.1138_1139del
INPP4B transcript variant 3 NM_001331040.1:c.1897_1898= NM_001331040.1:c.1897_1898del
INPP4B transcript variant X4 XM_047416353.1:c.1897_1898= XM_047416353.1:c.1897_1898del
INPP4B transcript variant X3 XM_047416352.1:c.1897_1898= XM_047416352.1:c.1897_1898del
INPP4B transcript variant 5 NM_001385335.1:c.1897_1898= NM_001385335.1:c.1897_1898del
INPP4B transcript variant X5 XM_047416354.1:c.1897_1898= XM_047416354.1:c.1897_1898del
INPP4B transcript variant X15 XM_047416363.1:c.1537_1538= XM_047416363.1:c.1537_1538del
INPP4B transcript variant 42 NM_001385460.1:c.1510_1511= NM_001385460.1:c.1510_1511del
INPP4B transcript variant 41 NM_001385459.1:c.1342_1343= NM_001385459.1:c.1342_1343del
INPP4B transcript variant X17 XM_047416365.1:c.1924_1925= XM_047416365.1:c.1924_1925del
inositol polyphosphate 4-phosphatase type II isoform 1 NP_003857.2:p.Ala633= NP_003857.2:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001095139.1:p.Ala633= NP_001095139.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform X1 XP_011530693.1:p.Ala642= XP_011530693.1:p.Ala642fs
inositol polyphosphate 4-phosphatase type II isoform X2 XP_024310042.1:p.Ala633= XP_024310042.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform X1 XP_024310041.1:p.Ala642= XP_024310041.1:p.Ala642fs
inositol polyphosphate 4-phosphatase type II isoform X6 XP_016864286.1:p.Ala536= XP_016864286.1:p.Ala536fs
inositol polyphosphate 4-phosphatase type II isoform X8 XP_016864287.1:p.Ala457= XP_016864287.1:p.Ala457fs
inositol polyphosphate 4-phosphatase type II isoform 4 NP_001372277.1:p.Ala633= NP_001372277.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform X3 XP_047272315.1:p.Ala633= XP_047272315.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform X3 XP_047272312.1:p.Ala633= XP_047272312.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001372273.1:p.Ala633= NP_001372273.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform 4 NP_001372276.1:p.Ala633= NP_001372276.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform 3 NP_001372268.1:p.Ala642= NP_001372268.1:p.Ala642fs
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001372265.1:p.Ala633= NP_001372265.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001372267.1:p.Ala633= NP_001372267.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001372263.1:p.Ala633= NP_001372263.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform 3 NP_001372272.1:p.Ala642= NP_001372272.1:p.Ala642fs
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001372270.1:p.Ala633= NP_001372270.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform X3 XP_047272313.1:p.Ala633= XP_047272313.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform 1 NP_001372271.1:p.Ala633= NP_001372271.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform X5 XP_047272318.1:p.Ala565= XP_047272318.1:p.Ala565fs
inositol polyphosphate 4-phosphatase type II isoform X3 XP_047272314.1:p.Ala633= XP_047272314.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform X4 XP_047272316.1:p.Ala574= XP_047272316.1:p.Ala574fs
inositol polyphosphate 4-phosphatase type II isoform X5 XP_047272317.1:p.Ala565= XP_047272317.1:p.Ala565fs
inositol polyphosphate 4-phosphatase type II isoform 10 NP_001372308.1:p.Ala448= NP_001372308.1:p.Ala448fs
inositol polyphosphate 4-phosphatase type II isoform 6 NP_001372280.1:p.Ala498= NP_001372280.1:p.Ala498fs
inositol polyphosphate 4-phosphatase type II isoform 16 NP_001372381.1:p.Ala385= NP_001372381.1:p.Ala385fs
inositol polyphosphate 4-phosphatase type II isoform 13 NP_001372309.1:p.Ala448= NP_001372309.1:p.Ala448fs
inositol polyphosphate 4-phosphatase type II isoform 8 NP_001372384.1:p.Ala457= NP_001372384.1:p.Ala457fs
inositol polyphosphate 4-phosphatase type II isoform 9 NP_001372311.1:p.Ala448= NP_001372311.1:p.Ala448fs
inositol polyphosphate 4-phosphatase type II isoform 10 NP_001372312.1:p.Ala448= NP_001372312.1:p.Ala448fs
inositol polyphosphate 4-phosphatase type II isoform 11 NP_001372310.1:p.Ala448= NP_001372310.1:p.Ala448fs
inositol polyphosphate 4-phosphatase type II isoform 10 NP_001372279.1:p.Ala448= NP_001372279.1:p.Ala448fs
inositol polyphosphate 4-phosphatase type II isoform 18 NP_001372291.1:p.Ala380= NP_001372291.1:p.Ala380fs
inositol polyphosphate 4-phosphatase type II isoform 10 NP_001372390.1:p.Ala448= NP_001372390.1:p.Ala448fs
inositol polyphosphate 4-phosphatase type II isoform 15 NP_001372379.1:p.Ala389= NP_001372379.1:p.Ala389fs
inositol polyphosphate 4-phosphatase type II isoform 17 NP_001372286.1:p.Ala380= NP_001372286.1:p.Ala380fs
inositol polyphosphate 4-phosphatase type II isoform 10 NP_001372386.1:p.Ala448= NP_001372386.1:p.Ala448fs
inositol polyphosphate 4-phosphatase type II isoform 17 NP_001372387.1:p.Ala380= NP_001372387.1:p.Ala380fs
inositol polyphosphate 4-phosphatase type II isoform 2 NP_001317969.1:p.Ala633= NP_001317969.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform X2 XP_047272309.1:p.Ala633= XP_047272309.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform X2 XP_047272308.1:p.Ala633= XP_047272308.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform 2 NP_001372264.1:p.Ala633= NP_001372264.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform X2 XP_047272310.1:p.Ala633= XP_047272310.1:p.Ala633fs
inositol polyphosphate 4-phosphatase type II isoform X7 XP_047272319.1:p.Ala513= XP_047272319.1:p.Ala513fs
inositol polyphosphate 4-phosphatase type II isoform 5 NP_001372389.1:p.Ala504= NP_001372389.1:p.Ala504fs
inositol polyphosphate 4-phosphatase type II isoform 7 NP_001372388.1:p.Ala448= NP_001372388.1:p.Ala448fs
inositol polyphosphate 4-phosphatase type II isoform X9 XP_047272321.1:p.Ala642= XP_047272321.1:p.Ala642fs
INPP4B transcript variant 7 NM_001385337.1:c.1720+22429= NM_001385337.1:c.1720+22428_1720+22429del
INPP4B transcript variant 10 NM_001385340.1:c.1720+22429= NM_001385340.1:c.1720+22428_1720+22429del
INPP4B transcript variant 36 NM_001385454.1:c.1165+22429= NM_001385454.1:c.1165+22428_1165+22429del
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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2747307485 Jan 10, 2018 (151)
2 EGCUT_WGS ss3663607510 Jul 13, 2019 (153)
3 Genetic variation in the Estonian population NC_000004.11 - 143044564 Oct 12, 2018 (152)
4 ALFA NC_000004.12 - 142123411 Apr 26, 2021 (155)
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
9345758, ss2747307485, ss3663607510 NC_000004.11:143044563:GC: NC_000004.12:142123410:GC: (self)
10581246418 NC_000004.12:142123410:GC: NC_000004.12:142123410:GC: (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 rs1491104182

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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