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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.

rs751410680

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:13160253-13160254 (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
insGTCACT
Variation Type
Insertion
Frequency
insGTCACT=0.000008 (1/120768, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PHACTR1 : Inframe Insertion
Publications
0 citations
Genomic View
See rs on genome
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
ExAC Global Study-wide 120768 -

No frequency provided

insGTCACT=0.000008
ExAC Europe Sub 73352 -

No frequency provided

insGTCACT=0.00001
ExAC Asian Sub 25138 -

No frequency provided

insGTCACT=0.00000
ExAC American Sub 11576 -

No frequency provided

insGTCACT=0.00000
ExAC African Sub 9802 -

No frequency provided

insGTCACT=0.0000
ExAC Other Sub 900 -

No frequency provided

insGTCACT=0.000
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 6 NC_000006.12:g.13160253_13160254insGTCACT
GRCh37.p13 chr 6 NC_000006.11:g.13160485_13160486insGTCACT
GRCh38.p14 chr 6 novel patch HSCHR6_1_CTG10 NW_013171803.1:g.63455_63456insGTCACT
Gene: PHACTR1, phosphatase and actin regulator 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PHACTR1 transcript variant 13 NM_001374584.1:c. N/A Genic Downstream Transcript Variant
PHACTR1 transcript variant 11 NM_001374582.1:c.465_466i…

NM_001374582.1:c.465_466insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform g NP_001361511.1:p.Arg156_G…

NP_001361511.1:p.Arg156_Gly157insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant 8 NM_001322313.2:c.189_190i…

NM_001322313.2:c.189_190insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform d NP_001309242.1:p.Arg64_Gl…

NP_001309242.1:p.Arg64_Gly65insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant 9 NM_001322314.4:c.468_469i…

NM_001322314.4:c.468_469insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform e NP_001309243.1:p.Arg157_G…

NP_001309243.1:p.Arg157_Gly158insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant 7 NM_001322312.3:c.189_190i…

NM_001322312.3:c.189_190insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform c NP_001309241.1:p.Arg64_Gl…

NP_001309241.1:p.Arg64_Gly65insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant 3 NM_001322308.3:c.465_466i…

NM_001322308.3:c.465_466insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform a NP_001309237.1:p.Arg156_G…

NP_001309237.1:p.Arg156_Gly157insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant 4 NM_001322309.3:c.465_466i…

NM_001322309.3:c.465_466insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform a NP_001309238.1:p.Arg156_G…

NP_001309238.1:p.Arg156_Gly157insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant 10 NM_001374581.2:c.465_466i…

NM_001374581.2:c.465_466insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform f NP_001361510.1:p.Arg156_G…

NP_001361510.1:p.Arg156_Gly157insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant 6 NM_001322311.2:c.189_190i…

NM_001322311.2:c.189_190insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform c NP_001309240.1:p.Arg64_Gl…

NP_001309240.1:p.Arg64_Gly65insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant 2 NM_001242648.4:c.465_466i…

NM_001242648.4:c.465_466insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform a NP_001229577.1:p.Arg156_G…

NP_001229577.1:p.Arg156_Gly157insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant 1 NM_030948.6:c.465_466insG…

NM_030948.6:c.465_466insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform a NP_112210.1:p.Arg156_Gly1…

NP_112210.1:p.Arg156_Gly157insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant 5 NM_001322310.2:c.465_466i…

NM_001322310.2:c.465_466insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform b NP_001309239.1:p.Arg156_G…

NP_001309239.1:p.Arg156_Gly157insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant 12 NM_001374583.2:c.189_190i…

NM_001374583.2:c.189_190insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform h NP_001361512.1:p.Arg64_Gl…

NP_001361512.1:p.Arg64_Gly65insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant X1 XM_005248934.4:c.465_466i…

XM_005248934.4:c.465_466insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform X1 XP_005248991.1:p.Arg156_G…

XP_005248991.1:p.Arg156_Gly157insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant X2 XM_047418372.1:c.465_466i…

XM_047418372.1:c.465_466insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform X1 XP_047274328.1:p.Arg156_G…

XP_047274328.1:p.Arg156_Gly157insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant X3 XM_047418373.1:c.465_466i…

XM_047418373.1:c.465_466insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform X1 XP_047274329.1:p.Arg156_G…

XP_047274329.1:p.Arg156_Gly157insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant X4 XM_047418374.1:c.465_466i…

XM_047418374.1:c.465_466insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform X1 XP_047274330.1:p.Arg156_G…

XP_047274330.1:p.Arg156_Gly157insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant X5 XM_017010458.3:c.468_469i…

XM_017010458.3:c.468_469insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform X2 XP_016865947.1:p.Arg157_G…

XP_016865947.1:p.Arg157_Gly158insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant X6 XM_017010459.3:c.465_466i…

XM_017010459.3:c.465_466insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform X3 XP_016865948.1:p.Arg156_G…

XP_016865948.1:p.Arg156_Gly157insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant X7 XM_017010464.3:c.468_469i…

XM_017010464.3:c.468_469insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform X4 XP_016865953.1:p.Arg157_G…

XP_016865953.1:p.Arg157_Gly158insValThr

() > VT (ValThr) Inframe Insertion
PHACTR1 transcript variant X8 XM_047418375.1:c.189_190i…

XM_047418375.1:c.189_190insGTCACT

[CGA] > VT [GTCACTCGA] Coding Sequence Variant
phosphatase and actin regulator 1 isoform X5 XP_047274331.1:p.Arg64_Gl…

XP_047274331.1:p.Arg64_Gly65insValThr

() > VT (ValThr) Inframe Insertion
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 = insGTCACT
GRCh38.p14 chr 6 NC_000006.12:g.13160253_13160254= NC_000006.12:g.13160253_13160254insGTCACT
GRCh37.p13 chr 6 NC_000006.11:g.13160485_13160486= NC_000006.11:g.13160485_13160486insGTCACT
GRCh38.p14 chr 6 novel patch HSCHR6_1_CTG10 NW_013171803.1:g.63455_63456= NW_013171803.1:g.63455_63456insGTCACT
PHACTR1 transcript variant 1 NM_030948.6:c.465_466= NM_030948.6:c.465_466insGTCACT
PHACTR1 transcript variant 1 NM_030948.5:c.465_466= NM_030948.5:c.465_466insGTCACT
PHACTR1 transcript variant 1 NM_030948.4:c.465_466= NM_030948.4:c.465_466insGTCACT
PHACTR1 transcript variant 1 NM_030948.3:c.465_466= NM_030948.3:c.465_466insGTCACT
PHACTR1 transcript variant 1 NM_030948.2:c.465_466= NM_030948.2:c.465_466insGTCACT
PHACTR1 transcript variant X1 XM_005248934.4:c.465_466= XM_005248934.4:c.465_466insGTCACT
PHACTR1 transcript variant X6 XM_005248934.3:c.465_466= XM_005248934.3:c.465_466insGTCACT
PHACTR1 transcript variant X6 XM_005248934.2:c.465_466= XM_005248934.2:c.465_466insGTCACT
PHACTR1 transcript variant X1 XM_005248934.1:c.465_466= XM_005248934.1:c.465_466insGTCACT
PHACTR1 transcript variant 9 NM_001322314.4:c.468_469= NM_001322314.4:c.468_469insGTCACT
PHACTR1 transcript variant 9 NM_001322314.3:c.468_469= NM_001322314.3:c.468_469insGTCACT
PHACTR1 transcript variant 9 NM_001322314.2:c.468_469= NM_001322314.2:c.468_469insGTCACT
PHACTR1 transcript variant 9 NM_001322314.1:c.468_469= NM_001322314.1:c.468_469insGTCACT
PHACTR1 transcript variant 2 NM_001242648.4:c.465_466= NM_001242648.4:c.465_466insGTCACT
PHACTR1 transcript variant 2 NM_001242648.3:c.465_466= NM_001242648.3:c.465_466insGTCACT
PHACTR1 transcript variant 2 NM_001242648.2:c.465_466= NM_001242648.2:c.465_466insGTCACT
PHACTR1 transcript variant 2 NM_001242648.1:c.465_466= NM_001242648.1:c.465_466insGTCACT
PHACTR1 transcript variant X6 XM_017010459.3:c.465_466= XM_017010459.3:c.465_466insGTCACT
PHACTR1 transcript variant X8 XM_017010459.2:c.465_466= XM_017010459.2:c.465_466insGTCACT
PHACTR1 transcript variant X8 XM_017010459.1:c.465_466= XM_017010459.1:c.465_466insGTCACT
PHACTR1 transcript variant 7 NM_001322312.3:c.189_190= NM_001322312.3:c.189_190insGTCACT
PHACTR1 transcript variant 7 NM_001322312.2:c.189_190= NM_001322312.2:c.189_190insGTCACT
PHACTR1 transcript variant 7 NM_001322312.1:c.189_190= NM_001322312.1:c.189_190insGTCACT
PHACTR1 transcript variant X5 XM_017010458.3:c.468_469= XM_017010458.3:c.468_469insGTCACT
PHACTR1 transcript variant X7 XM_017010458.2:c.468_469= XM_017010458.2:c.468_469insGTCACT
PHACTR1 transcript variant X7 XM_017010458.1:c.468_469= XM_017010458.1:c.468_469insGTCACT
PHACTR1 transcript variant X7 XM_017010464.3:c.468_469= XM_017010464.3:c.468_469insGTCACT
PHACTR1 transcript variant X12 XM_017010464.2:c.468_469= XM_017010464.2:c.468_469insGTCACT
PHACTR1 transcript variant X13 XM_017010464.1:c.468_469= XM_017010464.1:c.468_469insGTCACT
PHACTR1 transcript variant 4 NM_001322309.3:c.465_466= NM_001322309.3:c.465_466insGTCACT
PHACTR1 transcript variant 4 NM_001322309.2:c.465_466= NM_001322309.2:c.465_466insGTCACT
PHACTR1 transcript variant 4 NM_001322309.1:c.465_466= NM_001322309.1:c.465_466insGTCACT
PHACTR1 transcript variant 3 NM_001322308.3:c.465_466= NM_001322308.3:c.465_466insGTCACT
PHACTR1 transcript variant 3 NM_001322308.2:c.465_466= NM_001322308.2:c.465_466insGTCACT
PHACTR1 transcript variant 3 NM_001322308.1:c.465_466= NM_001322308.1:c.465_466insGTCACT
PHACTR1 transcript variant 10 NM_001374581.2:c.465_466= NM_001374581.2:c.465_466insGTCACT
PHACTR1 transcript variant 10 NM_001374581.1:c.465_466= NM_001374581.1:c.465_466insGTCACT
PHACTR1 transcript variant 8 NM_001322313.2:c.189_190= NM_001322313.2:c.189_190insGTCACT
PHACTR1 transcript variant 8 NM_001322313.1:c.189_190= NM_001322313.1:c.189_190insGTCACT
PHACTR1 transcript variant 12 NM_001374583.2:c.189_190= NM_001374583.2:c.189_190insGTCACT
PHACTR1 transcript variant 12 NM_001374583.1:c.189_190= NM_001374583.1:c.189_190insGTCACT
PHACTR1 transcript variant 5 NM_001322310.2:c.465_466= NM_001322310.2:c.465_466insGTCACT
PHACTR1 transcript variant 5 NM_001322310.1:c.465_466= NM_001322310.1:c.465_466insGTCACT
PHACTR1 transcript variant 6 NM_001322311.2:c.189_190= NM_001322311.2:c.189_190insGTCACT
PHACTR1 transcript variant 6 NM_001322311.1:c.189_190= NM_001322311.1:c.189_190insGTCACT
PHACTR1 transcript variant X3 XM_047418373.1:c.465_466= XM_047418373.1:c.465_466insGTCACT
PHACTR1 transcript variant X4 XM_047418374.1:c.465_466= XM_047418374.1:c.465_466insGTCACT
PHACTR1 transcript variant X2 XM_047418372.1:c.465_466= XM_047418372.1:c.465_466insGTCACT
PHACTR1 transcript variant X8 XM_047418375.1:c.189_190= XM_047418375.1:c.189_190insGTCACT
PHACTR1 transcript variant 11 NM_001374582.1:c.465_466= NM_001374582.1:c.465_466insGTCACT
phosphatase and actin regulator 1 isoform a NP_112210.1:p.Arg156_Gly157= NP_112210.1:p.Arg156_Gly157insValThr
phosphatase and actin regulator 1 isoform X1 XP_005248991.1:p.Arg156_Gly157= XP_005248991.1:p.Arg156_Gly157insValThr
phosphatase and actin regulator 1 isoform e NP_001309243.1:p.Arg157_Gly158= NP_001309243.1:p.Arg157_Gly158insValThr
phosphatase and actin regulator 1 isoform a NP_001229577.1:p.Arg156_Gly157= NP_001229577.1:p.Arg156_Gly157insValThr
phosphatase and actin regulator 1 isoform X3 XP_016865948.1:p.Arg156_Gly157= XP_016865948.1:p.Arg156_Gly157insValThr
phosphatase and actin regulator 1 isoform c NP_001309241.1:p.Arg64_Gly65= NP_001309241.1:p.Arg64_Gly65insValThr
phosphatase and actin regulator 1 isoform X2 XP_016865947.1:p.Arg157_Gly158= XP_016865947.1:p.Arg157_Gly158insValThr
phosphatase and actin regulator 1 isoform X4 XP_016865953.1:p.Arg157_Gly158= XP_016865953.1:p.Arg157_Gly158insValThr
phosphatase and actin regulator 1 isoform a NP_001309238.1:p.Arg156_Gly157= NP_001309238.1:p.Arg156_Gly157insValThr
phosphatase and actin regulator 1 isoform a NP_001309237.1:p.Arg156_Gly157= NP_001309237.1:p.Arg156_Gly157insValThr
phosphatase and actin regulator 1 isoform f NP_001361510.1:p.Arg156_Gly157= NP_001361510.1:p.Arg156_Gly157insValThr
phosphatase and actin regulator 1 isoform d NP_001309242.1:p.Arg64_Gly65= NP_001309242.1:p.Arg64_Gly65insValThr
phosphatase and actin regulator 1 isoform h NP_001361512.1:p.Arg64_Gly65= NP_001361512.1:p.Arg64_Gly65insValThr
phosphatase and actin regulator 1 isoform b NP_001309239.1:p.Arg156_Gly157= NP_001309239.1:p.Arg156_Gly157insValThr
phosphatase and actin regulator 1 isoform c NP_001309240.1:p.Arg64_Gly65= NP_001309240.1:p.Arg64_Gly65insValThr
phosphatase and actin regulator 1 isoform X1 XP_047274329.1:p.Arg156_Gly157= XP_047274329.1:p.Arg156_Gly157insValThr
phosphatase and actin regulator 1 isoform X1 XP_047274330.1:p.Arg156_Gly157= XP_047274330.1:p.Arg156_Gly157insValThr
phosphatase and actin regulator 1 isoform X1 XP_047274328.1:p.Arg156_Gly157= XP_047274328.1:p.Arg156_Gly157insValThr
phosphatase and actin regulator 1 isoform X5 XP_047274331.1:p.Arg64_Gly65= XP_047274331.1:p.Arg64_Gly65insValThr
phosphatase and actin regulator 1 isoform g NP_001361511.1:p.Arg156_Gly157= NP_001361511.1:p.Arg156_Gly157insValThr
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1711811878 Apr 01, 2015 (144)
2 ExAC NC_000006.11 - 13160486 Oct 12, 2018 (152)
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
8181230, ss1711811878 NC_000006.11:13160485::GTCACT NC_000006.12:13160253::GTCACT (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 rs751410680

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.post761+d5e8e07