Name: rs1491158868
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.

rs1491158868

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:122347573-122347574 (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: insA
Variation Type: Insertion
Frequency: insA=0.00008 (1/11834, GO-ESP)
insA=0.0000 (0/6388, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KIAA1109 : 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	6388	=1.0000	A=0.0000	1.0	0.0	0.0	N/A
European	Sub	6138	=1.0000	A=0.0000	1.0	0.0	0.0	N/A
African	Sub	0	=0	A=0	0	0	0	N/A
African Others	Sub	0	=0	A=0	0	0	0	N/A
African American	Sub	0	=0	A=0	0	0	0	N/A
Asian	Sub	0	=0	A=0	0	0	0	N/A
East Asian	Sub	0	=0	A=0	0	0	0	N/A
Other Asian	Sub	0	=0	A=0	0	0	0	N/A
Latin American 1	Sub	0	=0	A=0	0	0	0	N/A
Latin American 2	Sub	0	=0	A=0	0	0	0	N/A
South Asian	Sub	0	=0	A=0	0	0	0	N/A
Other	Sub	250	=1.000	A=0.000	1.0	0.0	0.0	N/A

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
GO Exome Sequencing Project	Global	Study-wide	11834	- No frequency provided	insA=0.00008
GO Exome Sequencing Project	European American	Sub	7966	- No frequency provided	insA=0.0001
GO Exome Sequencing Project	African American	Sub	3868	- No frequency provided	insA=0.0000
Allele Frequency Aggregator	Total	Global	6388	- No frequency provided	insA=0.0000
Allele Frequency Aggregator	European	Sub	6138	- No frequency provided	insA=0.0000
Allele Frequency Aggregator	Other	Sub	250	- No frequency provided	insA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	0	- No frequency provided	insA=0
Allele Frequency Aggregator	Latin American 2	Sub	0	- No frequency provided	insA=0
Allele Frequency Aggregator	South Asian	Sub	0	- No frequency provided	insA=0
Allele Frequency Aggregator	African	Sub	0	- No frequency provided	insA=0
Allele Frequency Aggregator	Asian	Sub	0	- No frequency provided	insA=0

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.122347573_122347574insA
GRCh37.p13 chr 4	NC_000004.11:g.123268728_123268729insA
BLTP1 RefSeqGene	NG_015813.2:g.181971_181972insA

Gene: KIAA1109, KIAA1109 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BLTP1 transcript variant 1	NM_001384125.1:c.13187_13… NM_001384125.1:c.13187_13188insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform 1	NP_001371054.1:p.Pro4397_… NP_001371054.1:p.Pro4397_Glu4398insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant 2	NM_015312.4:c.12923_12924… NM_015312.4:c.12923_12924insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform 2	NP_056127.2:p.Pro4309_Glu… NP_056127.2:p.Pro4309_Glu4310insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X41	XM_017008699.2:c.	N/A	Genic Downstream Transcript Variant
BLTP1 transcript variant X37	XM_047416275.1:c.	N/A	Genic Downstream Transcript Variant
BLTP1 transcript variant X38	XM_047416276.1:c.	N/A	Genic Downstream Transcript Variant
BLTP1 transcript variant X39	XM_047416277.1:c.	N/A	Genic Downstream Transcript Variant
BLTP1 transcript variant X35	XM_024454243.1:c.11339_11… XM_024454243.1:c.11339_11340insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X23	XP_024310011.1:p.Pro3781_… XP_024310011.1:p.Pro3781_Glu3782insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X1	XM_011532320.4:c.13187_13… XM_011532320.4:c.13187_13188insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X1	XP_011530622.1:p.Pro4397_… XP_011530622.1:p.Pro4397_Glu4398insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X2	XM_047416251.1:c.13187_13… XM_047416251.1:c.13187_13188insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X1	XP_047272207.1:p.Pro4397_… XP_047272207.1:p.Pro4397_Glu4398insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X3	XM_047416252.1:c.13187_13… XM_047416252.1:c.13187_13188insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X1	XP_047272208.1:p.Pro4397_… XP_047272208.1:p.Pro4397_Glu4398insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X4	XM_047416253.1:c.13187_13… XM_047416253.1:c.13187_13188insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X1	XP_047272209.1:p.Pro4397_… XP_047272209.1:p.Pro4397_Glu4398insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X5	XM_047416254.1:c.13187_13… XM_047416254.1:c.13187_13188insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X1	XP_047272210.1:p.Pro4397_… XP_047272210.1:p.Pro4397_Glu4398insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X6	XM_011532322.2:c.13184_13… XM_011532322.2:c.13184_13185insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X2	XP_011530624.1:p.Pro4396_… XP_011530624.1:p.Pro4396_Glu4397insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X7	XM_047416255.1:c.13184_13… XM_047416255.1:c.13184_13185insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X2	XP_047272211.1:p.Pro4396_… XP_047272211.1:p.Pro4396_Glu4397insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X8	XM_047416256.1:c.13184_13… XM_047416256.1:c.13184_13185insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X2	XP_047272212.1:p.Pro4396_… XP_047272212.1:p.Pro4396_Glu4397insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X9	XM_047416257.1:c.13184_13… XM_047416257.1:c.13184_13185insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X2	XP_047272213.1:p.Pro4396_… XP_047272213.1:p.Pro4396_Glu4397insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X10	XM_047416258.1:c.13184_13… XM_047416258.1:c.13184_13185insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X2	XP_047272214.1:p.Pro4396_… XP_047272214.1:p.Pro4396_Glu4397insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X11	XM_011532323.2:c.13136_13… XM_011532323.2:c.13136_13137insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X3	XP_011530625.1:p.Pro4380_… XP_011530625.1:p.Pro4380_Glu4381insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X12	XM_011532324.2:c.13124_13… XM_011532324.2:c.13124_13125insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X4	XP_011530626.1:p.Pro4376_… XP_011530626.1:p.Pro4376_Glu4377insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X13	XM_011532325.2:c.13082_13… XM_011532325.2:c.13082_13083insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X5	XP_011530627.1:p.Pro4362_… XP_011530627.1:p.Pro4362_Glu4363insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X14	XM_011532326.2:c.13058_13… XM_011532326.2:c.13058_13059insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X6	XP_011530628.1:p.Pro4354_… XP_011530628.1:p.Pro4354_Glu4355insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X15	XM_047416259.1:c.13058_13… XM_047416259.1:c.13058_13059insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X6	XP_047272215.1:p.Pro4354_… XP_047272215.1:p.Pro4354_Glu4355insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X16	XM_047416260.1:c.13058_13… XM_047416260.1:c.13058_13059insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X6	XP_047272216.1:p.Pro4354_… XP_047272216.1:p.Pro4354_Glu4355insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X17	XM_047416261.1:c.13055_13… XM_047416261.1:c.13055_13056insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X7	XP_047272217.1:p.Pro4353_… XP_047272217.1:p.Pro4353_Glu4354insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X18	XM_047416262.1:c.13055_13… XM_047416262.1:c.13055_13056insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X7	XP_047272218.1:p.Pro4353_… XP_047272218.1:p.Pro4353_Glu4354insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X19	XM_047416263.1:c.13055_13… XM_047416263.1:c.13055_13056insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X7	XP_047272219.1:p.Pro4353_… XP_047272219.1:p.Pro4353_Glu4354insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X20	XM_047416264.1:c.13037_13… XM_047416264.1:c.13037_13038insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X8	XP_047272220.1:p.Pro4347_… XP_047272220.1:p.Pro4347_Glu4348insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X21	XM_047416265.1:c.13019_13… XM_047416265.1:c.13019_13020insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X9	XP_047272221.1:p.Pro4341_… XP_047272221.1:p.Pro4341_Glu4342insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X22	XM_005263282.2:c.12986_12… XM_005263282.2:c.12986_12987insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X10	XP_005263339.1:p.Pro4330_… XP_005263339.1:p.Pro4330_Glu4331insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X23	XM_047416266.1:c.12935_12… XM_047416266.1:c.12935_12936insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X11	XP_047272222.1:p.Pro4313_… XP_047272222.1:p.Pro4313_Glu4314insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X24	XM_005263287.2:c.12923_12… XM_005263287.2:c.12923_12924insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X12	XP_005263344.1:p.Pro4309_… XP_005263344.1:p.Pro4309_Glu4310insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X25	XM_017008695.2:c.12881_12… XM_017008695.2:c.12881_12882insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X13	XP_016864184.1:p.Pro4295_… XP_016864184.1:p.Pro4295_Glu4296insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X26	XM_047416267.1:c.12872_12… XM_047416267.1:c.12872_12873insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X14	XP_047272223.1:p.Pro4292_… XP_047272223.1:p.Pro4292_Glu4293insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X27	XM_047416268.1:c.12830_12… XM_047416268.1:c.12830_12831insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X15	XP_047272224.1:p.Pro4278_… XP_047272224.1:p.Pro4278_Glu4279insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X28	XM_047416269.1:c.12827_12… XM_047416269.1:c.12827_12828insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X16	XP_047272225.1:p.Pro4277_… XP_047272225.1:p.Pro4277_Glu4278insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X29	XM_017008697.2:c.12818_12… XM_017008697.2:c.12818_12819insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X17	XP_016864186.1:p.Pro4274_… XP_016864186.1:p.Pro4274_Glu4275insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X30	XM_047416270.1:c.12803_12… XM_047416270.1:c.12803_12804insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X18	XP_047272226.1:p.Pro4269_… XP_047272226.1:p.Pro4269_Glu4270insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X31	XM_047416271.1:c.12767_12… XM_047416271.1:c.12767_12768insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X19	XP_047272227.1:p.Pro4257_… XP_047272227.1:p.Pro4257_Glu4258insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X32	XM_047416272.1:c.12449_12… XM_047416272.1:c.12449_12450insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X20	XP_047272228.1:p.Pro4151_… XP_047272228.1:p.Pro4151_Glu4152insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X33	XM_047416273.1:c.13187_13… XM_047416273.1:c.13187_13188insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X21	XP_047272229.1:p.Pro4397_… XP_047272229.1:p.Pro4397_Glu4398insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X34	XM_011532330.2:c.11438_11… XM_011532330.2:c.11438_11439insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X22	XP_011530632.1:p.Pro3814_… XP_011530632.1:p.Pro3814_Glu3815insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X36	XM_017008698.2:c.10418_10… XM_017008698.2:c.10418_10419insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X24	XP_016864187.1:p.Pro3474_… XP_016864187.1:p.Pro3474_Glu3475insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X42	XM_006714344.2:c.12920_12… XM_006714344.2:c.12920_12921insA	S [TCC] > S [TCAC]	Coding Sequence Variant
bridge-like lipid transfer protein family member 1 isoform X29	XP_006714407.1:p.Pro4308_… XP_006714407.1:p.Pro4308_Glu4309insTer	S (Ser) > S (Ser)	Frameshift Variant
BLTP1 transcript variant X40	XR_938783.2:n.	N/A	Genic Downstream Transcript Variant

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	=	insA
GRCh38.p14 chr 4	NC_000004.12:g.122347573_122347574=	NC_000004.12:g.122347573_122347574insA
GRCh37.p13 chr 4	NC_000004.11:g.123268728_123268729=	NC_000004.11:g.123268728_123268729insA
BLTP1 RefSeqGene	NG_015813.2:g.181971_181972=	NG_015813.2:g.181971_181972insA
BLTP1 transcript variant 2	NM_015312.4:c.12923_12924=	NM_015312.4:c.12923_12924insA
KIAA1109 transcript variant 2	NM_015312.3:c.12923_12924=	NM_015312.3:c.12923_12924insA
BLTP1 transcript variant 1	NM_001384125.1:c.13187_13188=	NM_001384125.1:c.13187_13188insA
BLTP1 transcript variant X1	XM_011532320.4:c.13187_13188=	XM_011532320.4:c.13187_13188insA
KIAA1109 transcript variant X2	XM_011532320.3:c.13187_13188=	XM_011532320.3:c.13187_13188insA
KIAA1109 transcript variant X2	XM_011532320.2:c.13187_13188=	XM_011532320.2:c.13187_13188insA
KIAA1109 transcript variant X2	XM_011532320.1:c.13187_13188=	XM_011532320.1:c.13187_13188insA
BLTP1 transcript variant X6	XM_011532322.2:c.13184_13185=	XM_011532322.2:c.13184_13185insA
KIAA1109 transcript variant X4	XM_011532322.1:c.13184_13185=	XM_011532322.1:c.13184_13185insA
BLTP1 transcript variant X11	XM_011532323.2:c.13136_13137=	XM_011532323.2:c.13136_13137insA
KIAA1109 transcript variant X5	XM_011532323.1:c.13136_13137=	XM_011532323.1:c.13136_13137insA
BLTP1 transcript variant X12	XM_011532324.2:c.13124_13125=	XM_011532324.2:c.13124_13125insA
KIAA1109 transcript variant X6	XM_011532324.1:c.13124_13125=	XM_011532324.1:c.13124_13125insA
BLTP1 transcript variant X13	XM_011532325.2:c.13082_13083=	XM_011532325.2:c.13082_13083insA
KIAA1109 transcript variant X7	XM_011532325.1:c.13082_13083=	XM_011532325.1:c.13082_13083insA
BLTP1 transcript variant X14	XM_011532326.2:c.13058_13059=	XM_011532326.2:c.13058_13059insA
KIAA1109 transcript variant X8	XM_011532326.1:c.13058_13059=	XM_011532326.1:c.13058_13059insA
BLTP1 transcript variant X22	XM_005263282.2:c.12986_12987=	XM_005263282.2:c.12986_12987insA
KIAA1109 transcript variant X10	XM_005263282.1:c.12986_12987=	XM_005263282.1:c.12986_12987insA
BLTP1 transcript variant X24	XM_005263287.2:c.12923_12924=	XM_005263287.2:c.12923_12924insA
KIAA1109 transcript variant X11	XM_005263287.1:c.12923_12924=	XM_005263287.1:c.12923_12924insA
BLTP1 transcript variant X42	XM_006714344.2:c.12920_12921=	XM_006714344.2:c.12920_12921insA
KIAA1109 transcript variant X25	XM_006714344.1:c.12920_12921=	XM_006714344.1:c.12920_12921insA
BLTP1 transcript variant X25	XM_017008695.2:c.12881_12882=	XM_017008695.2:c.12881_12882insA
KIAA1109 transcript variant X12	XM_017008695.1:c.12881_12882=	XM_017008695.1:c.12881_12882insA
BLTP1 transcript variant X29	XM_017008697.2:c.12818_12819=	XM_017008697.2:c.12818_12819insA
KIAA1109 transcript variant X14	XM_017008697.1:c.12818_12819=	XM_017008697.1:c.12818_12819insA
BLTP1 transcript variant X36	XM_017008698.2:c.10418_10419=	XM_017008698.2:c.10418_10419insA
KIAA1109 transcript variant X18	XM_017008698.1:c.10418_10419=	XM_017008698.1:c.10418_10419insA
BLTP1 transcript variant X34	XM_011532330.2:c.11438_11439=	XM_011532330.2:c.11438_11439insA
KIAA1109 transcript variant X16	XM_011532330.1:c.11438_11439=	XM_011532330.1:c.11438_11439insA
BLTP1 transcript variant X5	XM_047416254.1:c.13187_13188=	XM_047416254.1:c.13187_13188insA
BLTP1 transcript variant X7	XM_047416255.1:c.13184_13185=	XM_047416255.1:c.13184_13185insA
BLTP1 transcript variant X3	XM_047416252.1:c.13187_13188=	XM_047416252.1:c.13187_13188insA
BLTP1 transcript variant X8	XM_047416256.1:c.13184_13185=	XM_047416256.1:c.13184_13185insA
BLTP1 transcript variant X4	XM_047416253.1:c.13187_13188=	XM_047416253.1:c.13187_13188insA
BLTP1 transcript variant X10	XM_047416258.1:c.13184_13185=	XM_047416258.1:c.13184_13185insA
BLTP1 transcript variant X18	XM_047416262.1:c.13055_13056=	XM_047416262.1:c.13055_13056insA
BLTP1 transcript variant X2	XM_047416251.1:c.13187_13188=	XM_047416251.1:c.13187_13188insA
BLTP1 transcript variant X9	XM_047416257.1:c.13184_13185=	XM_047416257.1:c.13184_13185insA
BLTP1 transcript variant X16	XM_047416260.1:c.13058_13059=	XM_047416260.1:c.13058_13059insA
BLTP1 transcript variant X15	XM_047416259.1:c.13058_13059=	XM_047416259.1:c.13058_13059insA
BLTP1 transcript variant X19	XM_047416263.1:c.13055_13056=	XM_047416263.1:c.13055_13056insA
BLTP1 transcript variant X17	XM_047416261.1:c.13055_13056=	XM_047416261.1:c.13055_13056insA
BLTP1 transcript variant X21	XM_047416265.1:c.13019_13020=	XM_047416265.1:c.13019_13020insA
BLTP1 transcript variant X27	XM_047416268.1:c.12830_12831=	XM_047416268.1:c.12830_12831insA
BLTP1 transcript variant X23	XM_047416266.1:c.12935_12936=	XM_047416266.1:c.12935_12936insA
BLTP1 transcript variant X26	XM_047416267.1:c.12872_12873=	XM_047416267.1:c.12872_12873insA
BLTP1 transcript variant X28	XM_047416269.1:c.12827_12828=	XM_047416269.1:c.12827_12828insA
BLTP1 transcript variant X30	XM_047416270.1:c.12803_12804=	XM_047416270.1:c.12803_12804insA
BLTP1 transcript variant X31	XM_047416271.1:c.12767_12768=	XM_047416271.1:c.12767_12768insA
BLTP1 transcript variant X20	XM_047416264.1:c.13037_13038=	XM_047416264.1:c.13037_13038insA
BLTP1 transcript variant X32	XM_047416272.1:c.12449_12450=	XM_047416272.1:c.12449_12450insA
BLTP1 transcript variant X33	XM_047416273.1:c.13187_13188=	XM_047416273.1:c.13187_13188insA
BLTP1 transcript variant X35	XM_024454243.1:c.11339_11340=	XM_024454243.1:c.11339_11340insA
bridge-like lipid transfer protein family member 1 isoform 2	NP_056127.2:p.Ser4308_Pro4309=	NP_056127.2:p.Pro4309_Glu4310insTer
bridge-like lipid transfer protein family member 1 isoform 1	NP_001371054.1:p.Ser4396_Pro4397=	NP_001371054.1:p.Pro4397_Glu4398insTer
bridge-like lipid transfer protein family member 1 isoform X1	XP_011530622.1:p.Ser4396_Pro4397=	XP_011530622.1:p.Pro4397_Glu4398insTer
bridge-like lipid transfer protein family member 1 isoform X2	XP_011530624.1:p.Ser4395_Pro4396=	XP_011530624.1:p.Pro4396_Glu4397insTer
bridge-like lipid transfer protein family member 1 isoform X3	XP_011530625.1:p.Ser4379_Pro4380=	XP_011530625.1:p.Pro4380_Glu4381insTer
bridge-like lipid transfer protein family member 1 isoform X4	XP_011530626.1:p.Ser4375_Pro4376=	XP_011530626.1:p.Pro4376_Glu4377insTer
bridge-like lipid transfer protein family member 1 isoform X5	XP_011530627.1:p.Ser4361_Pro4362=	XP_011530627.1:p.Pro4362_Glu4363insTer
bridge-like lipid transfer protein family member 1 isoform X6	XP_011530628.1:p.Ser4353_Pro4354=	XP_011530628.1:p.Pro4354_Glu4355insTer
bridge-like lipid transfer protein family member 1 isoform X10	XP_005263339.1:p.Ser4329_Pro4330=	XP_005263339.1:p.Pro4330_Glu4331insTer
bridge-like lipid transfer protein family member 1 isoform X12	XP_005263344.1:p.Ser4308_Pro4309=	XP_005263344.1:p.Pro4309_Glu4310insTer
bridge-like lipid transfer protein family member 1 isoform X29	XP_006714407.1:p.Ser4307_Pro4308=	XP_006714407.1:p.Pro4308_Glu4309insTer
bridge-like lipid transfer protein family member 1 isoform X13	XP_016864184.1:p.Ser4294_Pro4295=	XP_016864184.1:p.Pro4295_Glu4296insTer
bridge-like lipid transfer protein family member 1 isoform X17	XP_016864186.1:p.Ser4273_Pro4274=	XP_016864186.1:p.Pro4274_Glu4275insTer
bridge-like lipid transfer protein family member 1 isoform X24	XP_016864187.1:p.Ser3473_Pro3474=	XP_016864187.1:p.Pro3474_Glu3475insTer
bridge-like lipid transfer protein family member 1 isoform X22	XP_011530632.1:p.Ser3813_Pro3814=	XP_011530632.1:p.Pro3814_Glu3815insTer
bridge-like lipid transfer protein family member 1 isoform X1	XP_047272210.1:p.Ser4396_Pro4397=	XP_047272210.1:p.Pro4397_Glu4398insTer
bridge-like lipid transfer protein family member 1 isoform X2	XP_047272211.1:p.Ser4395_Pro4396=	XP_047272211.1:p.Pro4396_Glu4397insTer
bridge-like lipid transfer protein family member 1 isoform X1	XP_047272208.1:p.Ser4396_Pro4397=	XP_047272208.1:p.Pro4397_Glu4398insTer
bridge-like lipid transfer protein family member 1 isoform X2	XP_047272212.1:p.Ser4395_Pro4396=	XP_047272212.1:p.Pro4396_Glu4397insTer
bridge-like lipid transfer protein family member 1 isoform X1	XP_047272209.1:p.Ser4396_Pro4397=	XP_047272209.1:p.Pro4397_Glu4398insTer
bridge-like lipid transfer protein family member 1 isoform X2	XP_047272214.1:p.Ser4395_Pro4396=	XP_047272214.1:p.Pro4396_Glu4397insTer
bridge-like lipid transfer protein family member 1 isoform X7	XP_047272218.1:p.Ser4352_Pro4353=	XP_047272218.1:p.Pro4353_Glu4354insTer
bridge-like lipid transfer protein family member 1 isoform X1	XP_047272207.1:p.Ser4396_Pro4397=	XP_047272207.1:p.Pro4397_Glu4398insTer
bridge-like lipid transfer protein family member 1 isoform X2	XP_047272213.1:p.Ser4395_Pro4396=	XP_047272213.1:p.Pro4396_Glu4397insTer
bridge-like lipid transfer protein family member 1 isoform X6	XP_047272216.1:p.Ser4353_Pro4354=	XP_047272216.1:p.Pro4354_Glu4355insTer
bridge-like lipid transfer protein family member 1 isoform X6	XP_047272215.1:p.Ser4353_Pro4354=	XP_047272215.1:p.Pro4354_Glu4355insTer
bridge-like lipid transfer protein family member 1 isoform X7	XP_047272219.1:p.Ser4352_Pro4353=	XP_047272219.1:p.Pro4353_Glu4354insTer
bridge-like lipid transfer protein family member 1 isoform X7	XP_047272217.1:p.Ser4352_Pro4353=	XP_047272217.1:p.Pro4353_Glu4354insTer
bridge-like lipid transfer protein family member 1 isoform X9	XP_047272221.1:p.Ser4340_Pro4341=	XP_047272221.1:p.Pro4341_Glu4342insTer
bridge-like lipid transfer protein family member 1 isoform X15	XP_047272224.1:p.Ser4277_Pro4278=	XP_047272224.1:p.Pro4278_Glu4279insTer
bridge-like lipid transfer protein family member 1 isoform X11	XP_047272222.1:p.Ser4312_Pro4313=	XP_047272222.1:p.Pro4313_Glu4314insTer
bridge-like lipid transfer protein family member 1 isoform X14	XP_047272223.1:p.Ser4291_Pro4292=	XP_047272223.1:p.Pro4292_Glu4293insTer
bridge-like lipid transfer protein family member 1 isoform X16	XP_047272225.1:p.Ser4276_Pro4277=	XP_047272225.1:p.Pro4277_Glu4278insTer
bridge-like lipid transfer protein family member 1 isoform X18	XP_047272226.1:p.Ser4268_Pro4269=	XP_047272226.1:p.Pro4269_Glu4270insTer
bridge-like lipid transfer protein family member 1 isoform X19	XP_047272227.1:p.Ser4256_Pro4257=	XP_047272227.1:p.Pro4257_Glu4258insTer
bridge-like lipid transfer protein family member 1 isoform X8	XP_047272220.1:p.Ser4346_Pro4347=	XP_047272220.1:p.Pro4347_Glu4348insTer
bridge-like lipid transfer protein family member 1 isoform X20	XP_047272228.1:p.Ser4150_Pro4151=	XP_047272228.1:p.Pro4151_Glu4152insTer
bridge-like lipid transfer protein family member 1 isoform X21	XP_047272229.1:p.Ser4396_Pro4397=	XP_047272229.1:p.Pro4397_Glu4398insTer
bridge-like lipid transfer protein family member 1 isoform X23	XP_024310011.1:p.Ser3780_Pro3781=	XP_024310011.1:p.Pro3781_Glu3782insTer

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#.

3 SubSNP, 2 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	AFFY	ss2985302770	Jan 10, 2018 (151)
2	ILLUMINA	ss3654074461	Oct 12, 2018 (152)
3	EVA	ss3824044193	Apr 26, 2020 (154)
4	GO Exome Sequencing Project	NC_000004.11 - 123268729	Oct 12, 2018 (152)
5	ALFA	NC_000004.12 - 122347574	Apr 26, 2021 (155)

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
502379, ss2985302770, ss3654074461, ss3824044193	NC_000004.11:123268728::A	NC_000004.12:122347573::A	(self)
12305964440	NC_000004.12:122347573::A	NC_000004.12:122347573::A	(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 rs1491158868

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

rs1491158868