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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.

rs1491252242

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:59180315-59180317 (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
insGTATAT / insG(TA)3T / insG(TA)6

insGTATAT / insG(TA)3T / insG(TA)6T / ins(GT)3ATAT / ins(GT)3(AT)3 / ins(GT)3(AT)4 / ins(GT)3(AT)5 / ins(GT)3(AT)8 / ins(GT)4ATAT / ins(GT)4(AT)3 / ins(GT)4(AT)4 / ins(GT)4(AT)5 / ins(GT)5ATAT / ins(GT)5(AT)3 / ins(GT)5(AT)4

Variation Type
Indel Insertion and Deletion
Frequency
ins(GT)5(AT)3=0.000004 (1/264690, TOPMED)
insGTATAT=0.00000 (0/11852, ALFA)
ins(GT)3ATAT=0.00000 (0/11852, ALFA) (+ 8 more)
ins(GT)3(AT)3=0.00000 (0/11852, ALFA)
ins(GT)3(AT)4=0.00000 (0/11852, ALFA)
ins(GT)3(AT)5=0.00000 (0/11852, ALFA)
ins(GT)4ATAT=0.00000 (0/11852, ALFA)
ins(GT)4(AT)3=0.00000 (0/11852, ALFA)
ins(GT)4(AT)4=0.00000 (0/11852, ALFA)
ins(GT)5ATAT=0.00000 (0/11852, ALFA)
ins(GT)5(AT)3=0.00000 (0/11852, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PHYHIPL : Intron 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 11852 TAT=1.00000 TATGTATAT=0.00000, TATGTGTGTATAT=0.00000, TATGTGTGTATATAT=0.00000, TATGTGTGTATATATAT=0.00000, TATGTGTGTATATATATAT=0.00000, TATGTGTGTGTATAT=0.00000, TATGTGTGTGTATATAT=0.00000, TATGTGTGTGTATATATAT=0.00000, TATGTGTGTGTGTATAT=0.00000, TATGTGTGTGTGTATATAT=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 TAT=1.0000 TATGTATAT=0.0000, TATGTGTGTATAT=0.0000, TATGTGTGTATATAT=0.0000, TATGTGTGTATATATAT=0.0000, TATGTGTGTATATATATAT=0.0000, TATGTGTGTGTATAT=0.0000, TATGTGTGTGTATATAT=0.0000, TATGTGTGTGTATATATAT=0.0000, TATGTGTGTGTGTATAT=0.0000, TATGTGTGTGTGTATATAT=0.0000 1.0 0.0 0.0 N/A
African Sub 2806 TAT=1.0000 TATGTATAT=0.0000, TATGTGTGTATAT=0.0000, TATGTGTGTATATAT=0.0000, TATGTGTGTATATATAT=0.0000, TATGTGTGTATATATATAT=0.0000, TATGTGTGTGTATAT=0.0000, TATGTGTGTGTATATAT=0.0000, TATGTGTGTGTATATATAT=0.0000, TATGTGTGTGTGTATAT=0.0000, TATGTGTGTGTGTATATAT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 TAT=1.000 TATGTATAT=0.000, TATGTGTGTATAT=0.000, TATGTGTGTATATAT=0.000, TATGTGTGTATATATAT=0.000, TATGTGTGTATATATATAT=0.000, TATGTGTGTGTATAT=0.000, TATGTGTGTGTATATAT=0.000, TATGTGTGTGTATATATAT=0.000, TATGTGTGTGTGTATAT=0.000, TATGTGTGTGTGTATATAT=0.000 1.0 0.0 0.0 N/A
African American Sub 2698 TAT=1.0000 TATGTATAT=0.0000, TATGTGTGTATAT=0.0000, TATGTGTGTATATAT=0.0000, TATGTGTGTATATATAT=0.0000, TATGTGTGTATATATATAT=0.0000, TATGTGTGTGTATAT=0.0000, TATGTGTGTGTATATAT=0.0000, TATGTGTGTGTATATATAT=0.0000, TATGTGTGTGTGTATAT=0.0000, TATGTGTGTGTGTATATAT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 TAT=1.000 TATGTATAT=0.000, TATGTGTGTATAT=0.000, TATGTGTGTATATAT=0.000, TATGTGTGTATATATAT=0.000, TATGTGTGTATATATATAT=0.000, TATGTGTGTGTATAT=0.000, TATGTGTGTGTATATAT=0.000, TATGTGTGTGTATATATAT=0.000, TATGTGTGTGTGTATAT=0.000, TATGTGTGTGTGTATATAT=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 TAT=1.00 TATGTATAT=0.00, TATGTGTGTATAT=0.00, TATGTGTGTATATAT=0.00, TATGTGTGTATATATAT=0.00, TATGTGTGTATATATATAT=0.00, TATGTGTGTGTATAT=0.00, TATGTGTGTGTATATAT=0.00, TATGTGTGTGTATATATAT=0.00, TATGTGTGTGTGTATAT=0.00, TATGTGTGTGTGTATATAT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 TAT=1.00 TATGTATAT=0.00, TATGTGTGTATAT=0.00, TATGTGTGTATATAT=0.00, TATGTGTGTATATATAT=0.00, TATGTGTGTATATATATAT=0.00, TATGTGTGTGTATAT=0.00, TATGTGTGTGTATATAT=0.00, TATGTGTGTGTATATATAT=0.00, TATGTGTGTGTGTATAT=0.00, TATGTGTGTGTGTATATAT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 TAT=1.000 TATGTATAT=0.000, TATGTGTGTATAT=0.000, TATGTGTGTATATAT=0.000, TATGTGTGTATATATAT=0.000, TATGTGTGTATATATATAT=0.000, TATGTGTGTGTATAT=0.000, TATGTGTGTGTATATAT=0.000, TATGTGTGTGTATATATAT=0.000, TATGTGTGTGTGTATAT=0.000, TATGTGTGTGTGTATATAT=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 TAT=1.000 TATGTATAT=0.000, TATGTGTGTATAT=0.000, TATGTGTGTATATAT=0.000, TATGTGTGTATATATAT=0.000, TATGTGTGTATATATATAT=0.000, TATGTGTGTGTATAT=0.000, TATGTGTGTGTATATAT=0.000, TATGTGTGTGTATATATAT=0.000, TATGTGTGTGTGTATAT=0.000, TATGTGTGTGTGTATATAT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 TAT=1.00 TATGTATAT=0.00, TATGTGTGTATAT=0.00, TATGTGTGTATATAT=0.00, TATGTGTGTATATATAT=0.00, TATGTGTGTATATATATAT=0.00, TATGTGTGTGTATAT=0.00, TATGTGTGTGTATATAT=0.00, TATGTGTGTGTATATATAT=0.00, TATGTGTGTGTGTATAT=0.00, TATGTGTGTGTGTATATAT=0.00 1.0 0.0 0.0 N/A
Other Sub 470 TAT=1.000 TATGTATAT=0.000, TATGTGTGTATAT=0.000, TATGTGTGTATATAT=0.000, TATGTGTGTATATATAT=0.000, TATGTGTGTATATATATAT=0.000, TATGTGTGTGTATAT=0.000, TATGTGTGTGTATATAT=0.000, TATGTGTGTGTATATATAT=0.000, TATGTGTGTGTGTATAT=0.000, TATGTGTGTGTGTATATAT=0.000 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
TopMed Global Study-wide 264690 -

No frequency provided

ins(GT)5(AT)3=0.000004
Allele Frequency Aggregator Total Global 11852 TAT=1.00000 insGTATAT=0.00000, ins(GT)3ATAT=0.00000, ins(GT)3(AT)3=0.00000, ins(GT)3(AT)4=0.00000, ins(GT)3(AT)5=0.00000, ins(GT)4ATAT=0.00000, ins(GT)4(AT)3=0.00000, ins(GT)4(AT)4=0.00000, ins(GT)5ATAT=0.00000, ins(GT)5(AT)3=0.00000
Allele Frequency Aggregator European Sub 7618 TAT=1.0000 insGTATAT=0.0000, ins(GT)3ATAT=0.0000, ins(GT)3(AT)3=0.0000, ins(GT)3(AT)4=0.0000, ins(GT)3(AT)5=0.0000, ins(GT)4ATAT=0.0000, ins(GT)4(AT)3=0.0000, ins(GT)4(AT)4=0.0000, ins(GT)5ATAT=0.0000, ins(GT)5(AT)3=0.0000
Allele Frequency Aggregator African Sub 2806 TAT=1.0000 insGTATAT=0.0000, ins(GT)3ATAT=0.0000, ins(GT)3(AT)3=0.0000, ins(GT)3(AT)4=0.0000, ins(GT)3(AT)5=0.0000, ins(GT)4ATAT=0.0000, ins(GT)4(AT)3=0.0000, ins(GT)4(AT)4=0.0000, ins(GT)5ATAT=0.0000, ins(GT)5(AT)3=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 TAT=1.000 insGTATAT=0.000, ins(GT)3ATAT=0.000, ins(GT)3(AT)3=0.000, ins(GT)3(AT)4=0.000, ins(GT)3(AT)5=0.000, ins(GT)4ATAT=0.000, ins(GT)4(AT)3=0.000, ins(GT)4(AT)4=0.000, ins(GT)5ATAT=0.000, ins(GT)5(AT)3=0.000
Allele Frequency Aggregator Other Sub 470 TAT=1.000 insGTATAT=0.000, ins(GT)3ATAT=0.000, ins(GT)3(AT)3=0.000, ins(GT)3(AT)4=0.000, ins(GT)3(AT)5=0.000, ins(GT)4ATAT=0.000, ins(GT)4(AT)3=0.000, ins(GT)4(AT)4=0.000, ins(GT)5ATAT=0.000, ins(GT)5(AT)3=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 TAT=1.000 insGTATAT=0.000, ins(GT)3ATAT=0.000, ins(GT)3(AT)3=0.000, ins(GT)3(AT)4=0.000, ins(GT)3(AT)5=0.000, ins(GT)4ATAT=0.000, ins(GT)4(AT)3=0.000, ins(GT)4(AT)4=0.000, ins(GT)5ATAT=0.000, ins(GT)5(AT)3=0.000
Allele Frequency Aggregator Asian Sub 108 TAT=1.000 insGTATAT=0.000, ins(GT)3ATAT=0.000, ins(GT)3(AT)3=0.000, ins(GT)3(AT)4=0.000, ins(GT)3(AT)5=0.000, ins(GT)4ATAT=0.000, ins(GT)4(AT)3=0.000, ins(GT)4(AT)4=0.000, ins(GT)5ATAT=0.000, ins(GT)5(AT)3=0.000
Allele Frequency Aggregator South Asian Sub 94 TAT=1.00 insGTATAT=0.00, ins(GT)3ATAT=0.00, ins(GT)3(AT)3=0.00, ins(GT)3(AT)4=0.00, ins(GT)3(AT)5=0.00, ins(GT)4ATAT=0.00, ins(GT)4(AT)3=0.00, ins(GT)4(AT)4=0.00, ins(GT)5ATAT=0.00, ins(GT)5(AT)3=0.00
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 10 NC_000010.11:g.59180317_59180318insGTATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTATATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTATATATATATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTGTGTATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTGTGTATATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTGTGTATATATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTGTGTATATATATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTGTGTATATATATATATATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTGTGTGTATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTGTGTGTATATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTGTGTGTATATATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTGTGTGTATATATATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTGTGTGTGTATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTGTGTGTGTATATAT
GRCh38.p14 chr 10 NC_000010.11:g.59180317_59180318insGTGTGTGTGTATATATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTATATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTATATATATATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTGTGTATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTGTGTATATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTGTGTATATATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTGTGTATATATATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTGTGTATATATATATATATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTGTGTGTATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTGTGTGTATATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTGTGTGTATATATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTGTGTGTATATATATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTGTGTGTGTATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTGTGTGTGTATATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940077_60940078insGTGTGTGTGTATATATAT
Gene: PHYHIPL, phytanoyl-CoA 2-hydroxylase interacting protein like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PHYHIPL transcript variant 2 NM_001143774.2:c.28+2699_…

NM_001143774.2:c.28+2699_28+2700insGTATAT

N/A Intron Variant
PHYHIPL transcript variant 1 NM_032439.4:c.106+3358_10…

NM_032439.4:c.106+3358_106+3359insGTATAT

N/A Intron Variant
PHYHIPL transcript variant X2 XM_011540275.4:c.-124+335…

XM_011540275.4:c.-124+3358_-124+3359insGTATAT

N/A Intron Variant
PHYHIPL transcript variant X1 XM_011540276.4:c.-33+4242…

XM_011540276.4:c.-33+4242_-33+4243insGTATAT

N/A Intron Variant
PHYHIPL transcript variant X3 XM_017016783.3:c.-124+424…

XM_017016783.3:c.-124+4242_-124+4243insGTATAT

N/A Intron Variant
PHYHIPL transcript variant X4 XM_017016782.2:c. N/A Genic Upstream 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 TAT= insGTATAT insG(TA)3T insG(TA)6T ins(GT)3ATAT ins(GT)3(AT)3 ins(GT)3(AT)4 ins(GT)3(AT)5 ins(GT)3(AT)8 ins(GT)4ATAT ins(GT)4(AT)3 ins(GT)4(AT)4 ins(GT)4(AT)5 ins(GT)5ATAT ins(GT)5(AT)3 ins(GT)5(AT)4
GRCh38.p14 chr 10 NC_000010.11:g.59180315_59180317= NC_000010.11:g.59180317_59180318insGTATAT NC_000010.11:g.59180317_59180318insGTATATAT NC_000010.11:g.59180317_59180318insGTATATATATATAT NC_000010.11:g.59180317_59180318insGTGTGTATAT NC_000010.11:g.59180317_59180318insGTGTGTATATAT NC_000010.11:g.59180317_59180318insGTGTGTATATATAT NC_000010.11:g.59180317_59180318insGTGTGTATATATATAT NC_000010.11:g.59180317_59180318insGTGTGTATATATATATATATAT NC_000010.11:g.59180317_59180318insGTGTGTGTATAT NC_000010.11:g.59180317_59180318insGTGTGTGTATATAT NC_000010.11:g.59180317_59180318insGTGTGTGTATATATAT NC_000010.11:g.59180317_59180318insGTGTGTGTATATATATAT NC_000010.11:g.59180317_59180318insGTGTGTGTGTATAT NC_000010.11:g.59180317_59180318insGTGTGTGTGTATATAT NC_000010.11:g.59180317_59180318insGTGTGTGTGTATATATAT
GRCh37.p13 chr 10 NC_000010.10:g.60940075_60940077= NC_000010.10:g.60940077_60940078insGTATAT NC_000010.10:g.60940077_60940078insGTATATAT NC_000010.10:g.60940077_60940078insGTATATATATATAT NC_000010.10:g.60940077_60940078insGTGTGTATAT NC_000010.10:g.60940077_60940078insGTGTGTATATAT NC_000010.10:g.60940077_60940078insGTGTGTATATATAT NC_000010.10:g.60940077_60940078insGTGTGTATATATATAT NC_000010.10:g.60940077_60940078insGTGTGTATATATATATATATAT NC_000010.10:g.60940077_60940078insGTGTGTGTATAT NC_000010.10:g.60940077_60940078insGTGTGTGTATATAT NC_000010.10:g.60940077_60940078insGTGTGTGTATATATAT NC_000010.10:g.60940077_60940078insGTGTGTGTATATATATAT NC_000010.10:g.60940077_60940078insGTGTGTGTGTATAT NC_000010.10:g.60940077_60940078insGTGTGTGTGTATATAT NC_000010.10:g.60940077_60940078insGTGTGTGTGTATATATAT
PHYHIPL transcript variant 2 NM_001143774.1:c.28+2697= NM_001143774.1:c.28+2699_28+2700insGTATAT NM_001143774.1:c.28+2699_28+2700insGTATATAT NM_001143774.1:c.28+2699_28+2700insGTATATATATATAT NM_001143774.1:c.28+2699_28+2700insGTGTGTATAT NM_001143774.1:c.28+2699_28+2700insGTGTGTATATAT NM_001143774.1:c.28+2699_28+2700insGTGTGTATATATAT NM_001143774.1:c.28+2699_28+2700insGTGTGTATATATATAT NM_001143774.1:c.28+2699_28+2700insGTGTGTATATATATATATATAT NM_001143774.1:c.28+2699_28+2700insGTGTGTGTATAT NM_001143774.1:c.28+2699_28+2700insGTGTGTGTATATAT NM_001143774.1:c.28+2699_28+2700insGTGTGTGTATATATAT NM_001143774.1:c.28+2699_28+2700insGTGTGTGTATATATATAT NM_001143774.1:c.28+2699_28+2700insGTGTGTGTGTATAT NM_001143774.1:c.28+2699_28+2700insGTGTGTGTGTATATAT NM_001143774.1:c.28+2699_28+2700insGTGTGTGTGTATATATAT
PHYHIPL transcript variant 2 NM_001143774.2:c.28+2697= NM_001143774.2:c.28+2699_28+2700insGTATAT NM_001143774.2:c.28+2699_28+2700insGTATATAT NM_001143774.2:c.28+2699_28+2700insGTATATATATATAT NM_001143774.2:c.28+2699_28+2700insGTGTGTATAT NM_001143774.2:c.28+2699_28+2700insGTGTGTATATAT NM_001143774.2:c.28+2699_28+2700insGTGTGTATATATAT NM_001143774.2:c.28+2699_28+2700insGTGTGTATATATATAT NM_001143774.2:c.28+2699_28+2700insGTGTGTATATATATATATATAT NM_001143774.2:c.28+2699_28+2700insGTGTGTGTATAT NM_001143774.2:c.28+2699_28+2700insGTGTGTGTATATAT NM_001143774.2:c.28+2699_28+2700insGTGTGTGTATATATAT NM_001143774.2:c.28+2699_28+2700insGTGTGTGTATATATATAT NM_001143774.2:c.28+2699_28+2700insGTGTGTGTGTATAT NM_001143774.2:c.28+2699_28+2700insGTGTGTGTGTATATAT NM_001143774.2:c.28+2699_28+2700insGTGTGTGTGTATATATAT
PHYHIPL transcript variant 1 NM_032439.3:c.106+3356= NM_032439.3:c.106+3358_106+3359insGTATAT NM_032439.3:c.106+3358_106+3359insGTATATAT NM_032439.3:c.106+3358_106+3359insGTATATATATATAT NM_032439.3:c.106+3358_106+3359insGTGTGTATAT NM_032439.3:c.106+3358_106+3359insGTGTGTATATAT NM_032439.3:c.106+3358_106+3359insGTGTGTATATATAT NM_032439.3:c.106+3358_106+3359insGTGTGTATATATATAT NM_032439.3:c.106+3358_106+3359insGTGTGTATATATATATATATAT NM_032439.3:c.106+3358_106+3359insGTGTGTGTATAT NM_032439.3:c.106+3358_106+3359insGTGTGTGTATATAT NM_032439.3:c.106+3358_106+3359insGTGTGTGTATATATAT NM_032439.3:c.106+3358_106+3359insGTGTGTGTATATATATAT NM_032439.3:c.106+3358_106+3359insGTGTGTGTGTATAT NM_032439.3:c.106+3358_106+3359insGTGTGTGTGTATATAT NM_032439.3:c.106+3358_106+3359insGTGTGTGTGTATATATAT
PHYHIPL transcript variant 1 NM_032439.4:c.106+3356= NM_032439.4:c.106+3358_106+3359insGTATAT NM_032439.4:c.106+3358_106+3359insGTATATAT NM_032439.4:c.106+3358_106+3359insGTATATATATATAT NM_032439.4:c.106+3358_106+3359insGTGTGTATAT NM_032439.4:c.106+3358_106+3359insGTGTGTATATAT NM_032439.4:c.106+3358_106+3359insGTGTGTATATATAT NM_032439.4:c.106+3358_106+3359insGTGTGTATATATATAT NM_032439.4:c.106+3358_106+3359insGTGTGTATATATATATATATAT NM_032439.4:c.106+3358_106+3359insGTGTGTGTATAT NM_032439.4:c.106+3358_106+3359insGTGTGTGTATATAT NM_032439.4:c.106+3358_106+3359insGTGTGTGTATATATAT NM_032439.4:c.106+3358_106+3359insGTGTGTGTATATATATAT NM_032439.4:c.106+3358_106+3359insGTGTGTGTGTATAT NM_032439.4:c.106+3358_106+3359insGTGTGTGTGTATATAT NM_032439.4:c.106+3358_106+3359insGTGTGTGTGTATATATAT
PHYHIPL transcript variant X2 XM_011540275.4:c.-124+3356= XM_011540275.4:c.-124+3358_-124+3359insGTATAT XM_011540275.4:c.-124+3358_-124+3359insGTATATAT XM_011540275.4:c.-124+3358_-124+3359insGTATATATATATAT XM_011540275.4:c.-124+3358_-124+3359insGTGTGTATAT XM_011540275.4:c.-124+3358_-124+3359insGTGTGTATATAT XM_011540275.4:c.-124+3358_-124+3359insGTGTGTATATATAT XM_011540275.4:c.-124+3358_-124+3359insGTGTGTATATATATAT XM_011540275.4:c.-124+3358_-124+3359insGTGTGTATATATATATATATAT XM_011540275.4:c.-124+3358_-124+3359insGTGTGTGTATAT XM_011540275.4:c.-124+3358_-124+3359insGTGTGTGTATATAT XM_011540275.4:c.-124+3358_-124+3359insGTGTGTGTATATATAT XM_011540275.4:c.-124+3358_-124+3359insGTGTGTGTATATATATAT XM_011540275.4:c.-124+3358_-124+3359insGTGTGTGTGTATAT XM_011540275.4:c.-124+3358_-124+3359insGTGTGTGTGTATATAT XM_011540275.4:c.-124+3358_-124+3359insGTGTGTGTGTATATATAT
PHYHIPL transcript variant X1 XM_011540276.4:c.-33+4240= XM_011540276.4:c.-33+4242_-33+4243insGTATAT XM_011540276.4:c.-33+4242_-33+4243insGTATATAT XM_011540276.4:c.-33+4242_-33+4243insGTATATATATATAT XM_011540276.4:c.-33+4242_-33+4243insGTGTGTATAT XM_011540276.4:c.-33+4242_-33+4243insGTGTGTATATAT XM_011540276.4:c.-33+4242_-33+4243insGTGTGTATATATAT XM_011540276.4:c.-33+4242_-33+4243insGTGTGTATATATATAT XM_011540276.4:c.-33+4242_-33+4243insGTGTGTATATATATATATATAT XM_011540276.4:c.-33+4242_-33+4243insGTGTGTGTATAT XM_011540276.4:c.-33+4242_-33+4243insGTGTGTGTATATAT XM_011540276.4:c.-33+4242_-33+4243insGTGTGTGTATATATAT XM_011540276.4:c.-33+4242_-33+4243insGTGTGTGTATATATATAT XM_011540276.4:c.-33+4242_-33+4243insGTGTGTGTGTATAT XM_011540276.4:c.-33+4242_-33+4243insGTGTGTGTGTATATAT XM_011540276.4:c.-33+4242_-33+4243insGTGTGTGTGTATATATAT
PHYHIPL transcript variant X3 XM_017016783.3:c.-124+4240= XM_017016783.3:c.-124+4242_-124+4243insGTATAT XM_017016783.3:c.-124+4242_-124+4243insGTATATAT XM_017016783.3:c.-124+4242_-124+4243insGTATATATATATAT XM_017016783.3:c.-124+4242_-124+4243insGTGTGTATAT XM_017016783.3:c.-124+4242_-124+4243insGTGTGTATATAT XM_017016783.3:c.-124+4242_-124+4243insGTGTGTATATATAT XM_017016783.3:c.-124+4242_-124+4243insGTGTGTATATATATAT XM_017016783.3:c.-124+4242_-124+4243insGTGTGTATATATATATATATAT XM_017016783.3:c.-124+4242_-124+4243insGTGTGTGTATAT XM_017016783.3:c.-124+4242_-124+4243insGTGTGTGTATATAT XM_017016783.3:c.-124+4242_-124+4243insGTGTGTGTATATATAT XM_017016783.3:c.-124+4242_-124+4243insGTGTGTGTATATATATAT XM_017016783.3:c.-124+4242_-124+4243insGTGTGTGTGTATAT XM_017016783.3:c.-124+4242_-124+4243insGTGTGTGTGTATATAT XM_017016783.3:c.-124+4242_-124+4243insGTGTGTGTGTATATATAT
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#.

12 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4219339756 Apr 26, 2021 (155)
2 GNOMAD ss4219339757 Apr 26, 2021 (155)
3 GNOMAD ss4219339758 Apr 26, 2021 (155)
4 GNOMAD ss4219339759 Apr 26, 2021 (155)
5 GNOMAD ss4219339760 Apr 26, 2021 (155)
6 GNOMAD ss4219339761 Apr 26, 2021 (155)
7 GNOMAD ss4219339762 Apr 26, 2021 (155)
8 GNOMAD ss4219339763 Apr 26, 2021 (155)
9 GNOMAD ss4219339764 Apr 26, 2021 (155)
10 GNOMAD ss4219339765 Apr 26, 2021 (155)
11 GNOMAD ss4219339766 Apr 26, 2021 (155)
12 TOPMED ss4854021354 Apr 26, 2021 (155)
13 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353554477 (NC_000010.11:59180314::TATGTA 5/79638)
Row 353554478 (NC_000010.11:59180314::TATGTATA 1/79638)
Row 353554479 (NC_000010.11:59180314::TATGTATATATATA 1/79638)...

- Apr 26, 2021 (155)
14 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353554477 (NC_000010.11:59180314::TATGTA 5/79638)
Row 353554478 (NC_000010.11:59180314::TATGTATA 1/79638)
Row 353554479 (NC_000010.11:59180314::TATGTATATATATA 1/79638)...

- Apr 26, 2021 (155)
15 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353554477 (NC_000010.11:59180314::TATGTA 5/79638)
Row 353554478 (NC_000010.11:59180314::TATGTATA 1/79638)
Row 353554479 (NC_000010.11:59180314::TATGTATATATATA 1/79638)...

- Apr 26, 2021 (155)
16 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353554477 (NC_000010.11:59180314::TATGTA 5/79638)
Row 353554478 (NC_000010.11:59180314::TATGTATA 1/79638)
Row 353554479 (NC_000010.11:59180314::TATGTATATATATA 1/79638)...

- Apr 26, 2021 (155)
17 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353554477 (NC_000010.11:59180314::TATGTA 5/79638)
Row 353554478 (NC_000010.11:59180314::TATGTATA 1/79638)
Row 353554479 (NC_000010.11:59180314::TATGTATATATATA 1/79638)...

- Apr 26, 2021 (155)
18 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353554477 (NC_000010.11:59180314::TATGTA 5/79638)
Row 353554478 (NC_000010.11:59180314::TATGTATA 1/79638)
Row 353554479 (NC_000010.11:59180314::TATGTATATATATA 1/79638)...

- Apr 26, 2021 (155)
19 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353554477 (NC_000010.11:59180314::TATGTA 5/79638)
Row 353554478 (NC_000010.11:59180314::TATGTATA 1/79638)
Row 353554479 (NC_000010.11:59180314::TATGTATATATATA 1/79638)...

- Apr 26, 2021 (155)
20 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353554477 (NC_000010.11:59180314::TATGTA 5/79638)
Row 353554478 (NC_000010.11:59180314::TATGTATA 1/79638)
Row 353554479 (NC_000010.11:59180314::TATGTATATATATA 1/79638)...

- Apr 26, 2021 (155)
21 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353554477 (NC_000010.11:59180314::TATGTA 5/79638)
Row 353554478 (NC_000010.11:59180314::TATGTATA 1/79638)
Row 353554479 (NC_000010.11:59180314::TATGTATATATATA 1/79638)...

- Apr 26, 2021 (155)
22 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353554477 (NC_000010.11:59180314::TATGTA 5/79638)
Row 353554478 (NC_000010.11:59180314::TATGTATA 1/79638)
Row 353554479 (NC_000010.11:59180314::TATGTATATATATA 1/79638)...

- Apr 26, 2021 (155)
23 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353554477 (NC_000010.11:59180314::TATGTA 5/79638)
Row 353554478 (NC_000010.11:59180314::TATGTATA 1/79638)
Row 353554479 (NC_000010.11:59180314::TATGTATATATATA 1/79638)...

- Apr 26, 2021 (155)
24 TopMed NC_000010.11 - 59180315 Apr 26, 2021 (155)
25 ALFA NC_000010.11 - 59180315 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
ss4219339756 NC_000010.11:59180314::TATGTA NC_000010.11:59180314:TAT:TATGTATAT (self)
4011862108 NC_000010.11:59180314:TAT:TATGTATAT NC_000010.11:59180314:TAT:TATGTATAT (self)
ss4219339757 NC_000010.11:59180314::TATGTATA NC_000010.11:59180314:TAT:TATGTATA…

NC_000010.11:59180314:TAT:TATGTATATAT

(self)
ss4219339758 NC_000010.11:59180314::TATGTATATAT…

NC_000010.11:59180314::TATGTATATATATA

NC_000010.11:59180314:TAT:TATGTATA…

NC_000010.11:59180314:TAT:TATGTATATATATATAT

(self)
4011862108 NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTATAT

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTATAT

(self)
4011862108 NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTATATAT

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTATATAT

(self)
ss4219339759 NC_000010.11:59180314::TATGTGTGTAT…

NC_000010.11:59180314::TATGTGTGTATATA

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTATATATAT

(self)
4011862108 NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTATATATAT

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTATATATAT

(self)
4011862108 NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTATATATATAT

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTATATATATAT

(self)
ss4219339760 NC_000010.11:59180314::TATGTGTGTAT…

NC_000010.11:59180314::TATGTGTGTATATATATATATA

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTATATATATATATATAT

(self)
ss4219339761 NC_000010.11:59180314::TATGTGTGTGTA NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTATAT

(self)
4011862108 NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTATAT

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTATAT

(self)
ss4219339762 NC_000010.11:59180314::TATGTGTGTGT…

NC_000010.11:59180314::TATGTGTGTGTATA

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTATATAT

(self)
4011862108 NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTATATAT

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTATATAT

(self)
ss4219339763 NC_000010.11:59180314::TATGTGTGTGT…

NC_000010.11:59180314::TATGTGTGTGTATATA

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTATATATAT

(self)
4011862108 NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTATATATAT

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTATATATAT

(self)
ss4219339764 NC_000010.11:59180314::TATGTGTGTGT…

NC_000010.11:59180314::TATGTGTGTGTATATATA

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTATATATATAT

(self)
ss4219339765 NC_000010.11:59180314::TATGTGTGTGT…

NC_000010.11:59180314::TATGTGTGTGTGTA

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTGTATAT

(self)
4011862108 NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTGTATAT

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTGTATAT

(self)
69567009, ss4854021354 NC_000010.11:59180314::TATGTGTGTGT…

NC_000010.11:59180314::TATGTGTGTGTGTATA

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTGTATATAT

(self)
4011862108 NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTGTATATAT

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTGTATATAT

(self)
ss4219339766 NC_000010.11:59180314::TATGTGTGTGT…

NC_000010.11:59180314::TATGTGTGTGTGTATATA

NC_000010.11:59180314:TAT:TATGTGTG…

NC_000010.11:59180314:TAT:TATGTGTGTGTGTATATATAT

(self)
Help

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

No publications for rs1491252242

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d