Name: rs1042255013
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.

rs1042255013

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:14600344-14600366 (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: del(CA)₁₁ / del(CA)₁₀ / del(CA)₈ /…
del(CA)₁₁ / del(CA)₁₀ / del(CA)₈ / del(CA)₇ / del(CA)₆ / del(CA)₄ / del(CA)₃ / delCACA / delCA / dupCA / dupCACA / dup(CA)₃ / dup(CA)₄
Variation Type: Indel Insertion and Deletion
Frequency: del(CA)₆=0.00000 (0/13310, ALFA)
del(CA)₄=0.00000 (0/13310, ALFA)
del(CA)₃=0.00000 (0/13310, ALFA) (+ 6 more)
delCACA=0.00000 (0/13310, ALFA)
delCA=0.00000 (0/13310, ALFA)
dupCA=0.00000 (0/13310, ALFA)
dupCACA=0.00000 (0/13310, ALFA)
dup(CA)₃=0.00000 (0/13310, ALFA)
dup(CA)₄=0.00000 (0/13310, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MACROD2 : Intron Variant
MACROD2-IT1 : 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	HWEP
Total	Global	13310	ACACACACACACACACACACACA=1.00000	ACACACACACA=0.00000, ACACACACACACACA=0.00000, ACACACACACACACACA=0.00000, ACACACACACACACACACA=0.00000, ACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACACACA=0.00000	1.0	N/A
European	Sub	9514	ACACACACACACACACACACACA=1.0000	ACACACACACA=0.0000, ACACACACACACACA=0.0000, ACACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACA=0.0000	1.0	N/A
African	Sub	2398	ACACACACACACACACACACACA=1.0000	ACACACACACA=0.0000, ACACACACACACACA=0.0000, ACACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACA=0.0000	1.0	N/A
African Others	Sub	92	ACACACACACACACACACACACA=1.00	ACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00	1.0	N/A
African American	Sub	2306	ACACACACACACACACACACACA=1.0000	ACACACACACA=0.0000, ACACACACACACACA=0.0000, ACACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACA=0.0000	1.0	N/A
Asian	Sub	110	ACACACACACACACACACACACA=1.000	ACACACACACA=0.000, ACACACACACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000	1.0	N/A
East Asian	Sub	84	ACACACACACACACACACACACA=1.00	ACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00	1.0	N/A
Other Asian	Sub	26	ACACACACACACACACACACACA=1.00	ACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00	1.0	N/A
Latin American 1	Sub	138	ACACACACACACACACACACACA=1.000	ACACACACACA=0.000, ACACACACACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000	1.0	N/A
Latin American 2	Sub	596	ACACACACACACACACACACACA=1.000	ACACACACACA=0.000, ACACACACACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=0.000	1.0	N/A
South Asian	Sub	98	ACACACACACACACACACACACA=1.00	ACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00	1.0	N/A
Other	Sub	456	ACACACACACACACACACACACA=1.000	ACACACACACA=0.000, ACACACACACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACACA=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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	13310	(AC)₁₁A=1.00000	del(CA)₆=0.00000, del(CA)₄=0.00000, del(CA)₃=0.00000, delCACA=0.00000, delCA=0.00000, dupCA=0.00000, dupCACA=0.00000, dup(CA)₃=0.00000, dup(CA)₄=0.00000
Allele Frequency Aggregator	European	Sub	9514	(AC)₁₁A=1.0000	del(CA)₆=0.0000, del(CA)₄=0.0000, del(CA)₃=0.0000, delCACA=0.0000, delCA=0.0000, dupCA=0.0000, dupCACA=0.0000, dup(CA)₃=0.0000, dup(CA)₄=0.0000
Allele Frequency Aggregator	African	Sub	2398	(AC)₁₁A=1.0000	del(CA)₆=0.0000, del(CA)₄=0.0000, del(CA)₃=0.0000, delCACA=0.0000, delCA=0.0000, dupCA=0.0000, dupCACA=0.0000, dup(CA)₃=0.0000, dup(CA)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	596	(AC)₁₁A=1.000	del(CA)₆=0.000, del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000
Allele Frequency Aggregator	Other	Sub	456	(AC)₁₁A=1.000	del(CA)₆=0.000, del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	138	(AC)₁₁A=1.000	del(CA)₆=0.000, del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000
Allele Frequency Aggregator	Asian	Sub	110	(AC)₁₁A=1.000	del(CA)₆=0.000, del(CA)₄=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000
Allele Frequency Aggregator	South Asian	Sub	98	(AC)₁₁A=1.00	del(CA)₆=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00

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 20	NC_000020.11:g.14600345_14600366del
GRCh38.p14 chr 20	NC_000020.11:g.14600345CA[1]
GRCh38.p14 chr 20	NC_000020.11:g.14600345CA[3]
GRCh38.p14 chr 20	NC_000020.11:g.14600345CA[4]
GRCh38.p14 chr 20	NC_000020.11:g.14600345CA[5]
GRCh38.p14 chr 20	NC_000020.11:g.14600345CA[7]
GRCh38.p14 chr 20	NC_000020.11:g.14600345CA[8]
GRCh38.p14 chr 20	NC_000020.11:g.14600345CA[9]
GRCh38.p14 chr 20	NC_000020.11:g.14600345CA[10]
GRCh38.p14 chr 20	NC_000020.11:g.14600345CA[12]
GRCh38.p14 chr 20	NC_000020.11:g.14600345CA[13]
GRCh38.p14 chr 20	NC_000020.11:g.14600345CA[14]
GRCh38.p14 chr 20	NC_000020.11:g.14600345CA[15]
GRCh37.p13 chr 20	NC_000020.10:g.14580991_14581012del
GRCh37.p13 chr 20	NC_000020.10:g.14580991CA[1]
GRCh37.p13 chr 20	NC_000020.10:g.14580991CA[3]
GRCh37.p13 chr 20	NC_000020.10:g.14580991CA[4]
GRCh37.p13 chr 20	NC_000020.10:g.14580991CA[5]
GRCh37.p13 chr 20	NC_000020.10:g.14580991CA[7]
GRCh37.p13 chr 20	NC_000020.10:g.14580991CA[8]
GRCh37.p13 chr 20	NC_000020.10:g.14580991CA[9]
GRCh37.p13 chr 20	NC_000020.10:g.14580991CA[10]
GRCh37.p13 chr 20	NC_000020.10:g.14580991CA[12]
GRCh37.p13 chr 20	NC_000020.10:g.14580991CA[13]
GRCh37.p13 chr 20	NC_000020.10:g.14580991CA[14]
GRCh37.p13 chr 20	NC_000020.10:g.14580991CA[15]
MACROD2 RefSeqGene	NG_054905.1:g.609846_609867del
MACROD2 RefSeqGene	NG_054905.1:g.609846CA[1]
MACROD2 RefSeqGene	NG_054905.1:g.609846CA[3]
MACROD2 RefSeqGene	NG_054905.1:g.609846CA[4]
MACROD2 RefSeqGene	NG_054905.1:g.609846CA[5]
MACROD2 RefSeqGene	NG_054905.1:g.609846CA[7]
MACROD2 RefSeqGene	NG_054905.1:g.609846CA[8]
MACROD2 RefSeqGene	NG_054905.1:g.609846CA[9]
MACROD2 RefSeqGene	NG_054905.1:g.609846CA[10]
MACROD2 RefSeqGene	NG_054905.1:g.609846CA[12]
MACROD2 RefSeqGene	NG_054905.1:g.609846CA[13]
MACROD2 RefSeqGene	NG_054905.1:g.609846CA[14]
MACROD2 RefSeqGene	NG_054905.1:g.609846CA[15]

Gene: MACROD2, mono-ADP ribosylhydrolase 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MACROD2 transcript variant 3	NM_001351661.2:c.302-8449… NM_001351661.2:c.302-84498_302-84477del	N/A	Intron Variant
MACROD2 transcript variant 4	NM_001351663.2:c.302-8449… NM_001351663.2:c.302-84498_302-84477del	N/A	Intron Variant
MACROD2 transcript variant 1	NM_080676.6:c.302-84498_3… NM_080676.6:c.302-84498_302-84477del	N/A	Intron Variant
MACROD2 transcript variant 2	NM_001033087.2:c.	N/A	Genic Upstream Transcript Variant
MACROD2 transcript variant 5	NM_001351664.2:c.	N/A	Genic Upstream Transcript Variant
MACROD2 transcript variant X2	XM_017027675.2:c.	N/A	Genic Upstream Transcript Variant
MACROD2 transcript variant X3	XM_017027676.2:c.	N/A	Genic Upstream Transcript Variant
MACROD2 transcript variant X1	XM_024451834.2:c.	N/A	Genic Upstream Transcript Variant

Gene: MACROD2-IT1, MACROD2 intronic transcript 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MACROD2-IT1 transcript	NR_104193.2:n.	N/A	Intron 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	(AC)₁₁A=	del(CA)₁₁	del(CA)₁₀	del(CA)₈	del(CA)₇	del(CA)₆	del(CA)₄	del(CA)₃	delCACA	delCA	dupCA	dupCACA	dup(CA)₃	dup(CA)₄
GRCh38.p14 chr 20	NC_000020.11:g.14600344_14600366=	NC_000020.11:g.14600345_14600366del	NC_000020.11:g.14600345CA[1]	NC_000020.11:g.14600345CA[3]	NC_000020.11:g.14600345CA[4]	NC_000020.11:g.14600345CA[5]	NC_000020.11:g.14600345CA[7]	NC_000020.11:g.14600345CA[8]	NC_000020.11:g.14600345CA[9]	NC_000020.11:g.14600345CA[10]	NC_000020.11:g.14600345CA[12]	NC_000020.11:g.14600345CA[13]	NC_000020.11:g.14600345CA[14]	NC_000020.11:g.14600345CA[15]
GRCh37.p13 chr 20	NC_000020.10:g.14580990_14581012=	NC_000020.10:g.14580991_14581012del	NC_000020.10:g.14580991CA[1]	NC_000020.10:g.14580991CA[3]	NC_000020.10:g.14580991CA[4]	NC_000020.10:g.14580991CA[5]	NC_000020.10:g.14580991CA[7]	NC_000020.10:g.14580991CA[8]	NC_000020.10:g.14580991CA[9]	NC_000020.10:g.14580991CA[10]	NC_000020.10:g.14580991CA[12]	NC_000020.10:g.14580991CA[13]	NC_000020.10:g.14580991CA[14]	NC_000020.10:g.14580991CA[15]
MACROD2 RefSeqGene	NG_054905.1:g.609845_609867=	NG_054905.1:g.609846_609867del	NG_054905.1:g.609846CA[1]	NG_054905.1:g.609846CA[3]	NG_054905.1:g.609846CA[4]	NG_054905.1:g.609846CA[5]	NG_054905.1:g.609846CA[7]	NG_054905.1:g.609846CA[8]	NG_054905.1:g.609846CA[9]	NG_054905.1:g.609846CA[10]	NG_054905.1:g.609846CA[12]	NG_054905.1:g.609846CA[13]	NG_054905.1:g.609846CA[14]	NG_054905.1:g.609846CA[15]
MACROD2 transcript variant 3	NM_001351661.2:c.302-84499=	NM_001351661.2:c.302-84498_302-84477del	NM_001351661.2:c.302-84496_302-84477del	NM_001351661.2:c.302-84499AC[3]	NM_001351661.2:c.302-84499AC[4]	NM_001351661.2:c.302-84499AC[5]	NM_001351661.2:c.302-84499AC[7]	NM_001351661.2:c.302-84499AC[8]	NM_001351661.2:c.302-84499AC[9]	NM_001351661.2:c.302-84499AC[10]	NM_001351661.2:c.302-84499AC[12]	NM_001351661.2:c.302-84499AC[13]	NM_001351661.2:c.302-84499AC[14]	NM_001351661.2:c.302-84499AC[15]
MACROD2 transcript variant 4	NM_001351663.2:c.302-84499=	NM_001351663.2:c.302-84498_302-84477del	NM_001351663.2:c.302-84496_302-84477del	NM_001351663.2:c.302-84499AC[3]	NM_001351663.2:c.302-84499AC[4]	NM_001351663.2:c.302-84499AC[5]	NM_001351663.2:c.302-84499AC[7]	NM_001351663.2:c.302-84499AC[8]	NM_001351663.2:c.302-84499AC[9]	NM_001351663.2:c.302-84499AC[10]	NM_001351663.2:c.302-84499AC[12]	NM_001351663.2:c.302-84499AC[13]	NM_001351663.2:c.302-84499AC[14]	NM_001351663.2:c.302-84499AC[15]
MACROD2 transcript variant 1	NM_080676.5:c.302-84499=	NM_080676.5:c.302-84498_302-84477del	NM_080676.5:c.302-84496_302-84477del	NM_080676.5:c.302-84499AC[3]	NM_080676.5:c.302-84499AC[4]	NM_080676.5:c.302-84499AC[5]	NM_080676.5:c.302-84499AC[7]	NM_080676.5:c.302-84499AC[8]	NM_080676.5:c.302-84499AC[9]	NM_080676.5:c.302-84499AC[10]	NM_080676.5:c.302-84499AC[12]	NM_080676.5:c.302-84499AC[13]	NM_080676.5:c.302-84499AC[14]	NM_080676.5:c.302-84499AC[15]
MACROD2 transcript variant 1	NM_080676.6:c.302-84499=	NM_080676.6:c.302-84498_302-84477del	NM_080676.6:c.302-84496_302-84477del	NM_080676.6:c.302-84499AC[3]	NM_080676.6:c.302-84499AC[4]	NM_080676.6:c.302-84499AC[5]	NM_080676.6:c.302-84499AC[7]	NM_080676.6:c.302-84499AC[8]	NM_080676.6:c.302-84499AC[9]	NM_080676.6:c.302-84499AC[10]	NM_080676.6:c.302-84499AC[12]	NM_080676.6:c.302-84499AC[13]	NM_080676.6:c.302-84499AC[14]	NM_080676.6:c.302-84499AC[15]
MACROD2 transcript variant X1	XM_005260667.1:c.302-84499=	XM_005260667.1:c.302-84498_302-84477del	XM_005260667.1:c.302-84496_302-84477del	XM_005260667.1:c.302-84499AC[3]	XM_005260667.1:c.302-84499AC[4]	XM_005260667.1:c.302-84499AC[5]	XM_005260667.1:c.302-84499AC[7]	XM_005260667.1:c.302-84499AC[8]	XM_005260667.1:c.302-84499AC[9]	XM_005260667.1:c.302-84499AC[10]	XM_005260667.1:c.302-84499AC[12]	XM_005260667.1:c.302-84499AC[13]	XM_005260667.1:c.302-84499AC[14]	XM_005260667.1:c.302-84499AC[15]

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#.

26 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ACPOP	ss3743276090	Jul 13, 2019 (153)
2	ACPOP	ss3743276091	Jul 13, 2019 (153)
3	EVA	ss3835603816	Apr 27, 2020 (154)
4	GNOMAD	ss4335586197	Apr 26, 2021 (155)
5	GNOMAD	ss4335586198	Apr 26, 2021 (155)
6	GNOMAD	ss4335586199	Apr 26, 2021 (155)
7	GNOMAD	ss4335586200	Apr 26, 2021 (155)
8	GNOMAD	ss4335586255	Apr 26, 2021 (155)
9	GNOMAD	ss4335586256	Apr 26, 2021 (155)
10	GNOMAD	ss4335586257	Apr 26, 2021 (155)
11	GNOMAD	ss4335586258	Apr 26, 2021 (155)
12	GNOMAD	ss4335586259	Apr 26, 2021 (155)
13	GNOMAD	ss4335586260	Apr 26, 2021 (155)
14	GNOMAD	ss4335586261	Apr 26, 2021 (155)
15	GNOMAD	ss4335586262	Apr 26, 2021 (155)
16	TOMMO_GENOMICS	ss5228974189	Apr 26, 2021 (155)
17	TOMMO_GENOMICS	ss5228974190	Apr 26, 2021 (155)
18	TOMMO_GENOMICS	ss5228974191	Apr 26, 2021 (155)
19	TOMMO_GENOMICS	ss5228974192	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5787998578	Oct 13, 2022 (156)
21	TOMMO_GENOMICS	ss5787998579	Oct 13, 2022 (156)
22	TOMMO_GENOMICS	ss5787998580	Oct 13, 2022 (156)
23	TOMMO_GENOMICS	ss5787998581	Oct 13, 2022 (156)
24	EVA	ss5845487040	Oct 13, 2022 (156)
25	EVA	ss5845487041	Oct 13, 2022 (156)
26	EVA	ss5853081486	Oct 13, 2022 (156)
27	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547349505 (NC_000020.11:14600343::AC 1264/119648) Row 547349506 (NC_000020.11:14600343::ACAC 93/119678) Row 547349507 (NC_000020.11:14600343::ACACAC 92/119310)...	-	Apr 26, 2021 (155)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547349505 (NC_000020.11:14600343::AC 1264/119648) Row 547349506 (NC_000020.11:14600343::ACAC 93/119678) Row 547349507 (NC_000020.11:14600343::ACACAC 92/119310)...	-	Apr 26, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547349505 (NC_000020.11:14600343::AC 1264/119648) Row 547349506 (NC_000020.11:14600343::ACAC 93/119678) Row 547349507 (NC_000020.11:14600343::ACACAC 92/119310)...	-	Apr 26, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547349505 (NC_000020.11:14600343::AC 1264/119648) Row 547349506 (NC_000020.11:14600343::ACAC 93/119678) Row 547349507 (NC_000020.11:14600343::ACACAC 92/119310)...	-	Apr 26, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547349505 (NC_000020.11:14600343::AC 1264/119648) Row 547349506 (NC_000020.11:14600343::ACAC 93/119678) Row 547349507 (NC_000020.11:14600343::ACACAC 92/119310)...	-	Apr 26, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547349505 (NC_000020.11:14600343::AC 1264/119648) Row 547349506 (NC_000020.11:14600343::ACAC 93/119678) Row 547349507 (NC_000020.11:14600343::ACACAC 92/119310)...	-	Apr 26, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547349505 (NC_000020.11:14600343::AC 1264/119648) Row 547349506 (NC_000020.11:14600343::ACAC 93/119678) Row 547349507 (NC_000020.11:14600343::ACACAC 92/119310)...	-	Apr 26, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547349505 (NC_000020.11:14600343::AC 1264/119648) Row 547349506 (NC_000020.11:14600343::ACAC 93/119678) Row 547349507 (NC_000020.11:14600343::ACACAC 92/119310)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547349505 (NC_000020.11:14600343::AC 1264/119648) Row 547349506 (NC_000020.11:14600343::ACAC 93/119678) Row 547349507 (NC_000020.11:14600343::ACACAC 92/119310)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547349505 (NC_000020.11:14600343::AC 1264/119648) Row 547349506 (NC_000020.11:14600343::ACAC 93/119678) Row 547349507 (NC_000020.11:14600343::ACACAC 92/119310)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547349505 (NC_000020.11:14600343::AC 1264/119648) Row 547349506 (NC_000020.11:14600343::ACAC 93/119678) Row 547349507 (NC_000020.11:14600343::ACACAC 92/119310)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547349505 (NC_000020.11:14600343::AC 1264/119648) Row 547349506 (NC_000020.11:14600343::ACAC 93/119678) Row 547349507 (NC_000020.11:14600343::ACACAC 92/119310)...	-	Apr 26, 2021 (155)
39	Northern Sweden Submission ignored due to conflicting rows: Row 16560955 (NC_000020.10:14580989::AC 7/598) Row 16560956 (NC_000020.10:14580989:ACAC: 3/598)	-	Jul 13, 2019 (153)
40	Northern Sweden Submission ignored due to conflicting rows: Row 16560955 (NC_000020.10:14580989::AC 7/598) Row 16560956 (NC_000020.10:14580989:ACAC: 3/598)	-	Jul 13, 2019 (153)
41	8.3KJPN Submission ignored due to conflicting rows: Row 86943496 (NC_000020.10:14580989:AC: 219/16760) Row 86943497 (NC_000020.10:14580989::ACAC 126/16760) Row 86943498 (NC_000020.10:14580989::AC 201/16760)...	-	Apr 26, 2021 (155)
42	8.3KJPN Submission ignored due to conflicting rows: Row 86943496 (NC_000020.10:14580989:AC: 219/16760) Row 86943497 (NC_000020.10:14580989::ACAC 126/16760) Row 86943498 (NC_000020.10:14580989::AC 201/16760)...	-	Apr 26, 2021 (155)
43	8.3KJPN Submission ignored due to conflicting rows: Row 86943496 (NC_000020.10:14580989:AC: 219/16760) Row 86943497 (NC_000020.10:14580989::ACAC 126/16760) Row 86943498 (NC_000020.10:14580989::AC 201/16760)...	-	Apr 26, 2021 (155)
44	8.3KJPN Submission ignored due to conflicting rows: Row 86943496 (NC_000020.10:14580989:AC: 219/16760) Row 86943497 (NC_000020.10:14580989::ACAC 126/16760) Row 86943498 (NC_000020.10:14580989::AC 201/16760)...	-	Apr 26, 2021 (155)
45	14KJPN Submission ignored due to conflicting rows: Row 121835682 (NC_000020.11:14600343::AC 360/28258) Row 121835683 (NC_000020.11:14600343:AC: 254/28258) Row 121835684 (NC_000020.11:14600343::ACAC 206/28258)...	-	Oct 13, 2022 (156)
46	14KJPN Submission ignored due to conflicting rows: Row 121835682 (NC_000020.11:14600343::AC 360/28258) Row 121835683 (NC_000020.11:14600343:AC: 254/28258) Row 121835684 (NC_000020.11:14600343::ACAC 206/28258)...	-	Oct 13, 2022 (156)
47	14KJPN Submission ignored due to conflicting rows: Row 121835682 (NC_000020.11:14600343::AC 360/28258) Row 121835683 (NC_000020.11:14600343:AC: 254/28258) Row 121835684 (NC_000020.11:14600343::ACAC 206/28258)...	-	Oct 13, 2022 (156)
48	14KJPN Submission ignored due to conflicting rows: Row 121835682 (NC_000020.11:14600343::AC 360/28258) Row 121835683 (NC_000020.11:14600343:AC: 254/28258) Row 121835684 (NC_000020.11:14600343::ACAC 206/28258)...	-	Oct 13, 2022 (156)
49	ALFA	NC_000020.11 - 14600344	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
ss4335586262	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACAC:	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:A	(self)
ss4335586261	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACAC:	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACA	(self)
ss4335586260	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACAC:	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACA	(self)
ss4335586259	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACAC:	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACA	(self)
10914454615	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACA	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACA	(self)
ss4335586258	NC_000020.11:14600343:ACACACAC:	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACA	(self)
10914454615	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACA	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACA	(self)
ss4335586257	NC_000020.11:14600343:ACACAC:	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACA	(self)
10914454615	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACA	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACA	(self)
ss3743276091	NC_000020.10:14580989:ACAC:	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACA	(self)
ss4335586256	NC_000020.11:14600343:ACAC:	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACA	(self)
10914454615	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACA	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACA	(self)
ss3835603816, ss5228974189, ss5845487041	NC_000020.10:14580989:AC:	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACA	(self)
ss4335586255, ss5787998579, ss5853081486	NC_000020.11:14600343:AC:	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACA	(self)
10914454615	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACA	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACA	(self)
ss3743276090, ss5228974191, ss5845487040	NC_000020.10:14580989::AC	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
ss4335586197, ss5787998578	NC_000020.11:14600343::AC	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
10914454615	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACA	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
ss5228974190	NC_000020.10:14580989::ACAC	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
ss4335586198, ss5787998580	NC_000020.11:14600343::ACAC	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
10914454615	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
ss5228974192	NC_000020.10:14580989::ACACAC	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
ss4335586199, ss5787998581	NC_000020.11:14600343::ACACAC	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
10914454615	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
ss4335586200	NC_000020.11:14600343::ACACACAC	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	(self)
10914454615	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2408052900	NC_000020.10:14580989:ACACACAC:	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACACACA
ss3355705872	NC_000020.11:14600343:ACACACACACAC:	NC_000020.11:14600343:ACACACACACAC… NC_000020.11:14600343:ACACACACACACACACACACACA:ACACACACACA

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

No publications for rs1042255013

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1042255013