Name: rs1442286310
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.

rs1442286310

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:188582541 (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: T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.000008 (2/264690, TOPMED)
G=0.000007 (1/150288, GnomAD_exome)
G=0.00078 (22/28256, 14KJPN) (+ 4 more)
G=0.00089 (15/16760, 8.3KJPN)
G=0.00000 (0/14050, ALFA)
G=0.0003 (1/2922, KOREAN)
G=0.0005 (1/1832, Korea1K)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GULP1 : Missense 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	HWEP
Total	Global	14050	T=1.00000	G=0.00000	1.0	N/A
European	Sub	9690	T=1.0000	G=0.0000	1.0	N/A
African	Sub	2898	T=1.0000	G=0.0000	1.0	N/A
African Others	Sub	114	T=1.000	G=0.000	1.0	N/A
African American	Sub	2784	T=1.0000	G=0.0000	1.0	N/A
Asian	Sub	112	T=1.000	G=0.000	1.0	N/A
East Asian	Sub	86	T=1.00	G=0.00	1.0	N/A
Other Asian	Sub	26	T=1.00	G=0.00	1.0	N/A
Latin American 1	Sub	146	T=1.000	G=0.000	1.0	N/A
Latin American 2	Sub	610	T=1.000	G=0.000	1.0	N/A
South Asian	Sub	98	T=1.00	G=0.00	1.0	N/A
Other	Sub	496	T=1.000	G=0.000	1.0	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
TopMed	Global	Study-wide	264690	T=0.999992	G=0.000008
gnomAD - Exomes	Global	Study-wide	150288	T=0.999993	G=0.000007
gnomAD - Exomes	European	Sub	72702	T=1.00000	G=0.00000
gnomAD - Exomes	Asian	Sub	33310	T=0.99997	G=0.00003
gnomAD - Exomes	American	Sub	24570	T=1.00000	G=0.00000
gnomAD - Exomes	Ashkenazi Jewish	Sub	8398	T=1.0000	G=0.0000
gnomAD - Exomes	African	Sub	6944	T=1.0000	G=0.0000
gnomAD - Exomes	Other	Sub	4364	T=1.0000	G=0.0000
14KJPN	JAPANESE	Study-wide	28256	T=0.99922	G=0.00078
8.3KJPN	JAPANESE	Study-wide	16760	T=0.99911	G=0.00089
Allele Frequency Aggregator	Total	Global	14050	T=1.00000	G=0.00000
Allele Frequency Aggregator	European	Sub	9690	T=1.0000	G=0.0000
Allele Frequency Aggregator	African	Sub	2898	T=1.0000	G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	T=1.000	G=0.000
Allele Frequency Aggregator	Other	Sub	496	T=1.000	G=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	T=1.000	G=0.000
Allele Frequency Aggregator	Asian	Sub	112	T=1.000	G=0.000
Allele Frequency Aggregator	South Asian	Sub	98	T=1.00	G=0.00
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9997	G=0.0003
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9995	G=0.0005

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 2	NC_000002.12:g.188582541T>G
GRCh37.p13 chr 2	NC_000002.11:g.189447268T>G

Gene: GULP1, GULP PTB domain containing engulfment adaptor 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GULP1 transcript variant 2	NM_001252668.2:c.610-1724… NM_001252668.2:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant 3	NM_001252669.2:c.301-1724… NM_001252669.2:c.301-1724T>G	N/A	Intron Variant
GULP1 transcript variant 4	NM_001375925.1:c.610-1724… NM_001375925.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant 5	NM_001375926.1:c.610-1724… NM_001375926.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant 6	NM_001375927.1:c.610-1724… NM_001375927.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant 7	NM_001375928.1:c.610-1724… NM_001375928.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant 8	NM_001375929.1:c.610-1724… NM_001375929.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant 9	NM_001375930.1:c.610-1724… NM_001375930.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant 10	NM_001375931.1:c.610-1724… NM_001375931.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant 23	NM_001375944.1:c.472-1724… NM_001375944.1:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant 24	NM_001375945.1:c.472-1724… NM_001375945.1:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant 25	NM_001375946.1:c.472-1724… NM_001375946.1:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant 26	NM_001375947.1:c.472-1724… NM_001375947.1:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant 29	NM_001375950.1:c.472-1724… NM_001375950.1:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant 1	NM_016315.4:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant 14	NM_001375935.1:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362864.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 19	NM_001375940.1:c.834T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform e	NP_001362869.1:p.Ser278Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 16	NM_001375937.1:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362866.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 13	NM_001375934.1:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362863.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 12	NM_001375933.1:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362862.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 22	NM_001375943.1:c.834T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform e	NP_001362872.1:p.Ser278Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 17	NM_001375938.1:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362867.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 27	NM_001375948.1:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform g	NP_001362877.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 11	NM_001375932.1:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362861.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 15	NM_001375936.1:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362865.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 28	NM_001375949.1:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform g	NP_001362878.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 18	NM_001375939.1:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362868.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 30	NM_001375951.1:c.750T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform i	NP_001362880.1:p.Ser250Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 21	NM_001375942.1:c.834T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform e	NP_001362871.1:p.Ser278Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 20	NM_001375941.1:c.834T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform e	NP_001362870.1:p.Ser278Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 32	NM_001375953.1:c.696T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform k	NP_001362882.1:p.Ser232Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 31	NM_001375952.1:c.738T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform j	NP_001362881.1:p.Ser246Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant 33	NR_164744.1:n.	N/A	Intron Variant
GULP1 transcript variant 34	NR_164745.1:n.	N/A	Intron Variant
GULP1 transcript variant X15	XM_006712589.4:c.610-1724… XM_006712589.4:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant X26	XM_011511335.3:c.472-1724… XM_011511335.3:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant X28	XM_017004307.2:c.472-1724… XM_017004307.2:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant X16	XM_047444698.1:c.610-1724… XM_047444698.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant X17	XM_047444699.1:c.610-1724… XM_047444699.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant X18	XM_047444700.1:c.610-1724… XM_047444700.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant X19	XM_047444701.1:c.610-1724… XM_047444701.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant X20	XM_047444702.1:c.610-1724… XM_047444702.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant X21	XM_047444703.1:c.610-1724… XM_047444703.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant X22	XM_047444704.1:c.610-1724… XM_047444704.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant X23	XM_047444705.1:c.610-1724… XM_047444705.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant X24	XM_047444706.1:c.610-1724… XM_047444706.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant X25	XM_047444707.1:c.610-1724… XM_047444707.1:c.610-1724T>G	N/A	Intron Variant
GULP1 transcript variant X27	XM_047444708.1:c.472-1724… XM_047444708.1:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant X29	XM_047444709.1:c.472-1724… XM_047444709.1:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant X30	XM_047444710.1:c.472-1724… XM_047444710.1:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant X31	XM_047444711.1:c.472-1724… XM_047444711.1:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant X32	XM_047444712.1:c.472-1724… XM_047444712.1:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant X33	XM_047444713.1:c.472-1724… XM_047444713.1:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant X34	XM_047444714.1:c.472-1724… XM_047444714.1:c.472-1724T>G	N/A	Intron Variant
GULP1 transcript variant X1	XM_006712580.5:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X1	XP_006712643.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X2	XM_006712582.2:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X1	XP_006712645.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X3	XM_006712584.5:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X1	XP_006712647.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X4	XM_006712583.5:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X1	XP_006712646.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X5	XM_047444691.1:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X2	XP_047300647.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X6	XM_011511329.2:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X2	XP_011509631.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X7	XM_047444692.1:c.810T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X2	XP_047300648.1:p.Ser270Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X8	XM_011511331.2:c.771T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X3	XP_011509633.1:p.Ser257Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X9	XM_047444693.1:c.726T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X4	XP_047300649.1:p.Ser242Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X10	XM_047444694.1:c.726T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X4	XP_047300650.1:p.Ser242Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X11	XM_011511333.2:c.672T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X5	XP_011509635.1:p.Ser224Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X12	XM_047444695.1:c.672T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X5	XP_047300651.1:p.Ser224Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X13	XM_047444696.1:c.672T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X5	XP_047300652.1:p.Ser224Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X14	XM_047444697.1:c.672T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X6	XP_047300653.1:p.Ser224Arg	S (Ser) > R (Arg)	Missense Variant
GULP1 transcript variant X35	XM_047444715.1:c.672T>G	S [AGT] > R [AGG]	Coding Sequence Variant
PTB domain-containing engulfment adapter protein 1 isoform X13	XP_047300671.1:p.Ser224Arg	S (Ser) > R (Arg)	Missense 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	T=	G
GRCh38.p14 chr 2	NC_000002.12:g.188582541=	NC_000002.12:g.188582541T>G
GRCh37.p13 chr 2	NC_000002.11:g.189447268=	NC_000002.11:g.189447268T>G
GULP1 transcript variant X4	XM_006712583.5:c.810=	XM_006712583.5:c.810T>G
GULP1 transcript variant X5	XM_006712583.4:c.810=	XM_006712583.4:c.810T>G
GULP1 transcript variant X4	XM_006712583.3:c.810=	XM_006712583.3:c.810T>G
GULP1 transcript variant X4	XM_006712583.2:c.810=	XM_006712583.2:c.810T>G
GULP1 transcript variant X4	XM_006712583.1:c.810=	XM_006712583.1:c.810T>G
GULP1 transcript variant X3	XM_006712584.5:c.810=	XM_006712584.5:c.810T>G
GULP1 transcript variant X6	XM_006712584.4:c.810=	XM_006712584.4:c.810T>G
GULP1 transcript variant X5	XM_006712584.3:c.810=	XM_006712584.3:c.810T>G
GULP1 transcript variant X6	XM_006712584.2:c.810=	XM_006712584.2:c.810T>G
GULP1 transcript variant X5	XM_006712584.1:c.810=	XM_006712584.1:c.810T>G
GULP1 transcript variant X1	XM_006712580.5:c.810=	XM_006712580.5:c.810T>G
GULP1 transcript variant X3	XM_006712580.4:c.810=	XM_006712580.4:c.810T>G
GULP1 transcript variant X2	XM_006712580.3:c.810=	XM_006712580.3:c.810T>G
GULP1 transcript variant X2	XM_006712580.2:c.810=	XM_006712580.2:c.810T>G
GULP1 transcript variant X1	XM_006712580.1:c.810=	XM_006712580.1:c.810T>G
GULP1 transcript variant X2	XM_006712582.2:c.810=	XM_006712582.2:c.810T>G
GULP1 transcript variant X4	XM_006712582.1:c.810=	XM_006712582.1:c.810T>G
GULP1 transcript variant X11	XM_011511333.2:c.672=	XM_011511333.2:c.672T>G
GULP1 transcript variant X14	XM_011511333.1:c.672=	XM_011511333.1:c.672T>G
GULP1 transcript variant X8	XM_011511331.2:c.771=	XM_011511331.2:c.771T>G
GULP1 transcript variant X12	XM_011511331.1:c.771=	XM_011511331.1:c.771T>G
GULP1 transcript variant X6	XM_011511329.2:c.810=	XM_011511329.2:c.810T>G
GULP1 transcript variant X8	XM_011511329.1:c.810=	XM_011511329.1:c.810T>G
GULP1 transcript variant 15	NM_001375936.1:c.810=	NM_001375936.1:c.810T>G
GULP1 transcript variant 20	NM_001375941.1:c.834=	NM_001375941.1:c.834T>G
GULP1 transcript variant 30	NM_001375951.1:c.750=	NM_001375951.1:c.750T>G
GULP1 transcript variant 21	NM_001375942.1:c.834=	NM_001375942.1:c.834T>G
GULP1 transcript variant 13	NM_001375934.1:c.810=	NM_001375934.1:c.810T>G
GULP1 transcript variant 18	NM_001375939.1:c.810=	NM_001375939.1:c.810T>G
GULP1 transcript variant 28	NM_001375949.1:c.810=	NM_001375949.1:c.810T>G
GULP1 transcript variant 12	NM_001375933.1:c.810=	NM_001375933.1:c.810T>G
GULP1 transcript variant 19	NM_001375940.1:c.834=	NM_001375940.1:c.834T>G
GULP1 transcript variant 22	NM_001375943.1:c.834=	NM_001375943.1:c.834T>G
GULP1 transcript variant 11	NM_001375932.1:c.810=	NM_001375932.1:c.810T>G
GULP1 transcript variant 17	NM_001375938.1:c.810=	NM_001375938.1:c.810T>G
GULP1 transcript variant 27	NM_001375948.1:c.810=	NM_001375948.1:c.810T>G
GULP1 transcript variant 14	NM_001375935.1:c.810=	NM_001375935.1:c.810T>G
GULP1 transcript variant X13	XM_047444696.1:c.672=	XM_047444696.1:c.672T>G
GULP1 transcript variant 32	NM_001375953.1:c.696=	NM_001375953.1:c.696T>G
GULP1 transcript variant 16	NM_001375937.1:c.810=	NM_001375937.1:c.810T>G
GULP1 transcript variant X35	XM_047444715.1:c.672=	XM_047444715.1:c.672T>G
GULP1 transcript variant X12	XM_047444695.1:c.672=	XM_047444695.1:c.672T>G
GULP1 transcript variant X9	XM_047444693.1:c.726=	XM_047444693.1:c.726T>G
GULP1 transcript variant 31	NM_001375952.1:c.738=	NM_001375952.1:c.738T>G
GULP1 transcript variant X10	XM_047444694.1:c.726=	XM_047444694.1:c.726T>G
GULP1 transcript variant X7	XM_047444692.1:c.810=	XM_047444692.1:c.810T>G
GULP1 transcript variant X14	XM_047444697.1:c.672=	XM_047444697.1:c.672T>G
GULP1 transcript variant X5	XM_047444691.1:c.810=	XM_047444691.1:c.810T>G
PTB domain-containing engulfment adapter protein 1 isoform X1	XP_006712646.1:p.Ser270=	XP_006712646.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform X1	XP_006712647.1:p.Ser270=	XP_006712647.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform X1	XP_006712643.1:p.Ser270=	XP_006712643.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform X1	XP_006712645.1:p.Ser270=	XP_006712645.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform X5	XP_011509635.1:p.Ser224=	XP_011509635.1:p.Ser224Arg
PTB domain-containing engulfment adapter protein 1 isoform X3	XP_011509633.1:p.Ser257=	XP_011509633.1:p.Ser257Arg
PTB domain-containing engulfment adapter protein 1 isoform X2	XP_011509631.1:p.Ser270=	XP_011509631.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362865.1:p.Ser270=	NP_001362865.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform e	NP_001362870.1:p.Ser278=	NP_001362870.1:p.Ser278Arg
PTB domain-containing engulfment adapter protein 1 isoform i	NP_001362880.1:p.Ser250=	NP_001362880.1:p.Ser250Arg
PTB domain-containing engulfment adapter protein 1 isoform e	NP_001362871.1:p.Ser278=	NP_001362871.1:p.Ser278Arg
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362863.1:p.Ser270=	NP_001362863.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362868.1:p.Ser270=	NP_001362868.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform g	NP_001362878.1:p.Ser270=	NP_001362878.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362862.1:p.Ser270=	NP_001362862.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform e	NP_001362869.1:p.Ser278=	NP_001362869.1:p.Ser278Arg
PTB domain-containing engulfment adapter protein 1 isoform e	NP_001362872.1:p.Ser278=	NP_001362872.1:p.Ser278Arg
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362861.1:p.Ser270=	NP_001362861.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362867.1:p.Ser270=	NP_001362867.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform g	NP_001362877.1:p.Ser270=	NP_001362877.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362864.1:p.Ser270=	NP_001362864.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform X5	XP_047300652.1:p.Ser224=	XP_047300652.1:p.Ser224Arg
PTB domain-containing engulfment adapter protein 1 isoform k	NP_001362882.1:p.Ser232=	NP_001362882.1:p.Ser232Arg
PTB domain-containing engulfment adapter protein 1 isoform d	NP_001362866.1:p.Ser270=	NP_001362866.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform X13	XP_047300671.1:p.Ser224=	XP_047300671.1:p.Ser224Arg
PTB domain-containing engulfment adapter protein 1 isoform X5	XP_047300651.1:p.Ser224=	XP_047300651.1:p.Ser224Arg
PTB domain-containing engulfment adapter protein 1 isoform X4	XP_047300649.1:p.Ser242=	XP_047300649.1:p.Ser242Arg
PTB domain-containing engulfment adapter protein 1 isoform j	NP_001362881.1:p.Ser246=	NP_001362881.1:p.Ser246Arg
PTB domain-containing engulfment adapter protein 1 isoform X4	XP_047300650.1:p.Ser242=	XP_047300650.1:p.Ser242Arg
PTB domain-containing engulfment adapter protein 1 isoform X2	XP_047300648.1:p.Ser270=	XP_047300648.1:p.Ser270Arg
PTB domain-containing engulfment adapter protein 1 isoform X6	XP_047300653.1:p.Ser224=	XP_047300653.1:p.Ser224Arg
PTB domain-containing engulfment adapter protein 1 isoform X2	XP_047300647.1:p.Ser270=	XP_047300647.1:p.Ser270Arg
GULP1 transcript variant 2	NM_001252668.1:c.610-1724=	NM_001252668.1:c.610-1724T>G
GULP1 transcript variant 2	NM_001252668.2:c.610-1724=	NM_001252668.2:c.610-1724T>G
GULP1 transcript variant 3	NM_001252669.1:c.301-1724=	NM_001252669.1:c.301-1724T>G
GULP1 transcript variant 3	NM_001252669.2:c.301-1724=	NM_001252669.2:c.301-1724T>G
GULP1 transcript variant 4	NM_001375925.1:c.610-1724=	NM_001375925.1:c.610-1724T>G
GULP1 transcript variant 5	NM_001375926.1:c.610-1724=	NM_001375926.1:c.610-1724T>G
GULP1 transcript variant 6	NM_001375927.1:c.610-1724=	NM_001375927.1:c.610-1724T>G
GULP1 transcript variant 7	NM_001375928.1:c.610-1724=	NM_001375928.1:c.610-1724T>G
GULP1 transcript variant 8	NM_001375929.1:c.610-1724=	NM_001375929.1:c.610-1724T>G
GULP1 transcript variant 9	NM_001375930.1:c.610-1724=	NM_001375930.1:c.610-1724T>G
GULP1 transcript variant 10	NM_001375931.1:c.610-1724=	NM_001375931.1:c.610-1724T>G
GULP1 transcript variant 23	NM_001375944.1:c.472-1724=	NM_001375944.1:c.472-1724T>G
GULP1 transcript variant 24	NM_001375945.1:c.472-1724=	NM_001375945.1:c.472-1724T>G
GULP1 transcript variant 25	NM_001375946.1:c.472-1724=	NM_001375946.1:c.472-1724T>G
GULP1 transcript variant 26	NM_001375947.1:c.472-1724=	NM_001375947.1:c.472-1724T>G
GULP1 transcript variant 29	NM_001375950.1:c.472-1724=	NM_001375950.1:c.472-1724T>G
GULP1 transcript variant 1	NM_016315.3:c.610-1724=	NM_016315.3:c.610-1724T>G
GULP1 transcript variant 1	NM_016315.4:c.610-1724=	NM_016315.4:c.610-1724T>G
GULP1 transcript variant X15	XM_006712589.4:c.610-1724=	XM_006712589.4:c.610-1724T>G
GULP1 transcript variant X26	XM_011511335.3:c.472-1724=	XM_011511335.3:c.472-1724T>G
GULP1 transcript variant X28	XM_017004307.2:c.472-1724=	XM_017004307.2:c.472-1724T>G
GULP1 transcript variant X16	XM_047444698.1:c.610-1724=	XM_047444698.1:c.610-1724T>G
GULP1 transcript variant X17	XM_047444699.1:c.610-1724=	XM_047444699.1:c.610-1724T>G
GULP1 transcript variant X18	XM_047444700.1:c.610-1724=	XM_047444700.1:c.610-1724T>G
GULP1 transcript variant X19	XM_047444701.1:c.610-1724=	XM_047444701.1:c.610-1724T>G
GULP1 transcript variant X20	XM_047444702.1:c.610-1724=	XM_047444702.1:c.610-1724T>G
GULP1 transcript variant X21	XM_047444703.1:c.610-1724=	XM_047444703.1:c.610-1724T>G
GULP1 transcript variant X22	XM_047444704.1:c.610-1724=	XM_047444704.1:c.610-1724T>G
GULP1 transcript variant X23	XM_047444705.1:c.610-1724=	XM_047444705.1:c.610-1724T>G
GULP1 transcript variant X24	XM_047444706.1:c.610-1724=	XM_047444706.1:c.610-1724T>G
GULP1 transcript variant X25	XM_047444707.1:c.610-1724=	XM_047444707.1:c.610-1724T>G
GULP1 transcript variant X27	XM_047444708.1:c.472-1724=	XM_047444708.1:c.472-1724T>G
GULP1 transcript variant X29	XM_047444709.1:c.472-1724=	XM_047444709.1:c.472-1724T>G
GULP1 transcript variant X30	XM_047444710.1:c.472-1724=	XM_047444710.1:c.472-1724T>G
GULP1 transcript variant X31	XM_047444711.1:c.472-1724=	XM_047444711.1:c.472-1724T>G
GULP1 transcript variant X32	XM_047444712.1:c.472-1724=	XM_047444712.1:c.472-1724T>G
GULP1 transcript variant X33	XM_047444713.1:c.472-1724=	XM_047444713.1:c.472-1724T>G
GULP1 transcript variant X34	XM_047444714.1:c.472-1724=	XM_047444714.1:c.472-1724T>G

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#.

6 SubSNP, 7 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss2733200266	Nov 08, 2017 (151)
2	KRGDB	ss3899877183	Apr 25, 2020 (154)
3	KOGIC	ss3949719635	Apr 25, 2020 (154)
4	TOPMED	ss4537875055	Apr 26, 2021 (155)
5	TOMMO_GENOMICS	ss5155641251	Apr 26, 2021 (155)
6	TOMMO_GENOMICS	ss5686273519	Oct 17, 2022 (156)
7	gnomAD - Exomes	NC_000002.11 - 189447268	Jul 13, 2019 (153)
8	KOREAN population from KRGDB	NC_000002.11 - 189447268	Apr 25, 2020 (154)
9	Korean Genome Project	NC_000002.12 - 188582541	Apr 25, 2020 (154)
10	8.3KJPN	NC_000002.11 - 189447268	Apr 26, 2021 (155)
11	14KJPN	NC_000002.12 - 188582541	Oct 17, 2022 (156)
12	TopMed	NC_000002.12 - 188582541	Apr 26, 2021 (155)
13	ALFA	NC_000002.12 - 188582541	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
2262274, 7054577, 13610558, ss2733200266, ss3899877183, ss5155641251	NC_000002.11:189447267:T:G	NC_000002.12:188582540:T:G	(self)
6097636, 20110623, 341697934, 8507511830, ss3949719635, ss4537875055, ss5686273519	NC_000002.12:188582540:T:G	NC_000002.12:188582540:T:G	(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 rs1442286310

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

rs1442286310