Name: rs1491144329
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.

rs1491144329

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:173936778-173936779 (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: insTA / insTAA / insTAAA / insT(A)…
insTA / insTAA / insTAAA / insT(A)₄ / insTTA / insTTTA / ins(T)₄A
Variation Type: Insertion
Frequency: insTA=0.00000 (0/11756, ALFA)
insTAA=0.00000 (0/11756, ALFA)
insTTA=0.00000 (0/11756, ALFA) (+ 2 more)
insTTTA=0.00000 (0/11756, ALFA)
ins(T)₄A=0.00000 (0/11756, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RC3H1 : 3 Prime UTR 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	11756	=1.00000	TA=0.00000, TAA=0.00000, TTA=0.00000, TTTA=0.00000, TTTTA=0.00000	1.0	N/A
European	Sub	7542	=1.0000	TA=0.0000, TAA=0.0000, TTA=0.0000, TTTA=0.0000, TTTTA=0.0000	1.0	N/A
African	Sub	2790	=1.0000	TA=0.0000, TAA=0.0000, TTA=0.0000, TTTA=0.0000, TTTTA=0.0000	1.0	N/A
African Others	Sub	104	=1.000	TA=0.000, TAA=0.000, TTA=0.000, TTTA=0.000, TTTTA=0.000	1.0	N/A
African American	Sub	2686	=1.0000	TA=0.0000, TAA=0.0000, TTA=0.0000, TTTA=0.0000, TTTTA=0.0000	1.0	N/A
Asian	Sub	108	=1.000	TA=0.000, TAA=0.000, TTA=0.000, TTTA=0.000, TTTTA=0.000	1.0	N/A
East Asian	Sub	84	=1.00	TA=0.00, TAA=0.00, TTA=0.00, TTTA=0.00, TTTTA=0.00	1.0	N/A
Other Asian	Sub	24	=1.00	TA=0.00, TAA=0.00, TTA=0.00, TTTA=0.00, TTTTA=0.00	1.0	N/A
Latin American 1	Sub	146	=1.000	TA=0.000, TAA=0.000, TTA=0.000, TTTA=0.000, TTTTA=0.000	1.0	N/A
Latin American 2	Sub	608	=1.000	TA=0.000, TAA=0.000, TTA=0.000, TTTA=0.000, TTTTA=0.000	1.0	N/A
South Asian	Sub	94	=1.00	TA=0.00, TAA=0.00, TTA=0.00, TTTA=0.00, TTTTA=0.00	1.0	N/A
Other	Sub	468	=1.000	TA=0.000, TAA=0.000, TTA=0.000, TTTA=0.000, TTTTA=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
Allele Frequency Aggregator	Total	Global	11756	- No frequency provided	insTA=0.00000, insTAA=0.00000, insTTA=0.00000, insTTTA=0.00000, ins(T)₄A=0.00000
Allele Frequency Aggregator	European	Sub	7542	- No frequency provided	insTA=0.0000, insTAA=0.0000, insTTA=0.0000, insTTTA=0.0000, ins(T)₄A=0.0000
Allele Frequency Aggregator	African	Sub	2790	- No frequency provided	insTA=0.0000, insTAA=0.0000, insTTA=0.0000, insTTTA=0.0000, ins(T)₄A=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	608	- No frequency provided	insTA=0.000, insTAA=0.000, insTTA=0.000, insTTTA=0.000, ins(T)₄A=0.000
Allele Frequency Aggregator	Other	Sub	468	- No frequency provided	insTA=0.000, insTAA=0.000, insTTA=0.000, insTTTA=0.000, ins(T)₄A=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	- No frequency provided	insTA=0.000, insTAA=0.000, insTTA=0.000, insTTTA=0.000, ins(T)₄A=0.000
Allele Frequency Aggregator	Asian	Sub	108	- No frequency provided	insTA=0.000, insTAA=0.000, insTTA=0.000, insTTTA=0.000, ins(T)₄A=0.000
Allele Frequency Aggregator	South Asian	Sub	94	- No frequency provided	insTA=0.00, insTAA=0.00, insTTA=0.00, insTTTA=0.00, ins(T)₄A=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 1	NC_000001.11:g.173936778_173936779insTA
GRCh38.p14 chr 1	NC_000001.11:g.173936778_173936779insTAA
GRCh38.p14 chr 1	NC_000001.11:g.173936778_173936779insTAAA
GRCh38.p14 chr 1	NC_000001.11:g.173936778_173936779insTAAAA
GRCh38.p14 chr 1	NC_000001.11:g.173936778_173936779insTTA
GRCh38.p14 chr 1	NC_000001.11:g.173936778_173936779insTTTA
GRCh38.p14 chr 1	NC_000001.11:g.173936778_173936779insTTTTA
GRCh37.p13 chr 1	NC_000001.10:g.173905916_173905917insTA
GRCh37.p13 chr 1	NC_000001.10:g.173905916_173905917insTAA
GRCh37.p13 chr 1	NC_000001.10:g.173905916_173905917insTAAA
GRCh37.p13 chr 1	NC_000001.10:g.173905916_173905917insTAAAA
GRCh37.p13 chr 1	NC_000001.10:g.173905916_173905917insTTA
GRCh37.p13 chr 1	NC_000001.10:g.173905916_173905917insTTTA
GRCh37.p13 chr 1	NC_000001.10:g.173905916_173905917insTTTTA

Gene: RC3H1, ring finger and CCCH-type domains 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RC3H1 transcript variant 1	NM_001300850.1:c.1942_1… NM_001300850.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant 3	NM_001300851.1:c.1942_1… NM_001300851.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant 4	NM_001300852.1:c.1942_1… NM_001300852.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant 2	NM_172071.4:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X1	XM_047447089.1:c.1942_1… XM_047447089.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X2	XM_047447090.1:c.1942_1… XM_047447090.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X3	XM_047447091.1:c.1942_1… XM_047447091.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X4	XM_047447092.1:c.1942_1… XM_047447092.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X5	XM_047447093.1:c.1942_1… XM_047447093.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X6	XM_047447094.1:c.1942_1… XM_047447094.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X7	XM_047447095.1:c.1942_1… XM_047447095.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X8	XM_005244921.4:c.1942_1… XM_005244921.4:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X9	XM_047447096.1:c.1942_1… XM_047447096.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X10	XM_047447097.1:c.1942_1… XM_047447097.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X11	XM_047447101.1:c.1942_1… XM_047447101.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X12	XM_047447102.1:c.1942_1… XM_047447102.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X13	XM_047447103.1:c.1942_1… XM_047447103.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X14	XM_047447104.1:c.1942_1… XM_047447104.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X15	XM_047447105.1:c.1942_1… XM_047447105.1:c.1942_1943=	N/A	3 Prime UTR Variant
RC3H1 transcript variant X16	XM_047447106.1:c.1942_1… XM_047447106.1:c.1942_1943=	N/A	3 Prime UTR 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	=	insTA	insTAA	insTAAA	insT(A)₄	insTTA	insTTTA	ins(T)₄A
GRCh38.p14 chr 1	NC_000001.11:g.173936778_173936779=	NC_000001.11:g.173936778_173936779insTA	NC_000001.11:g.173936778_173936779insTAA	NC_000001.11:g.173936778_173936779insTAAA	NC_000001.11:g.173936778_173936779insTAAAA	NC_000001.11:g.173936778_173936779insTTA	NC_000001.11:g.173936778_173936779insTTTA	NC_000001.11:g.173936778_173936779insTTTTA
GRCh37.p13 chr 1	NC_000001.10:g.173905916_173905917=	NC_000001.10:g.173905916_173905917insTA	NC_000001.10:g.173905916_173905917insTAA	NC_000001.10:g.173905916_173905917insTAAA	NC_000001.10:g.173905916_173905917insTAAAA	NC_000001.10:g.173905916_173905917insTTA	NC_000001.10:g.173905916_173905917insTTTA	NC_000001.10:g.173905916_173905917insTTTTA
RC3H1 transcript variant 2	NM_172071.4:c.1942_1943=	NM_172071.4:c.1942_1943insTA	NM_172071.4:c.1942_1943insTTA	NM_172071.4:c.1942_1943insTTTA	NM_172071.4:c.1942_1943insTTTTA	NM_172071.4:c.1942_1943insTAA	NM_172071.4:c.1942_1943insTAAA	NM_172071.4:c.1942_1943insTAAAA
RC3H1 transcript variant 2	NM_172071.3:c.1942_1943=	NM_172071.3:c.1942_1943insTA	NM_172071.3:c.1942_1943insTTA	NM_172071.3:c.1942_1943insTTTA	NM_172071.3:c.1942_1943insTTTTA	NM_172071.3:c.1942_1943insTAA	NM_172071.3:c.1942_1943insTAAA	NM_172071.3:c.1942_1943insTAAAA
RC3H1 transcript	NM_172071.2:c.1942_1943=	NM_172071.2:c.1942_1943insTA	NM_172071.2:c.1942_1943insTTA	NM_172071.2:c.1942_1943insTTTA	NM_172071.2:c.1942_1943insTTTTA	NM_172071.2:c.1942_1943insTAA	NM_172071.2:c.1942_1943insTAAA	NM_172071.2:c.1942_1943insTAAAA
RC3H1 transcript variant X8	XM_005244921.4:c.1942_1943=	XM_005244921.4:c.1942_1943insTA	XM_005244921.4:c.1942_1943insTTA	XM_005244921.4:c.1942_1943insTTTA	XM_005244921.4:c.1942_1943insTTTTA	XM_005244921.4:c.1942_1943insTAA	XM_005244921.4:c.1942_1943insTAAA	XM_005244921.4:c.1942_1943insTAAAA
RC3H1 transcript variant X1	XM_005244921.3:c.1942_1943=	XM_005244921.3:c.1942_1943insTA	XM_005244921.3:c.1942_1943insTTA	XM_005244921.3:c.1942_1943insTTTA	XM_005244921.3:c.1942_1943insTTTTA	XM_005244921.3:c.1942_1943insTAA	XM_005244921.3:c.1942_1943insTAAA	XM_005244921.3:c.1942_1943insTAAAA
RC3H1 transcript variant X1	XM_047447089.1:c.1942_1943=	XM_047447089.1:c.1942_1943insTA	XM_047447089.1:c.1942_1943insTTA	XM_047447089.1:c.1942_1943insTTTA	XM_047447089.1:c.1942_1943insTTTTA	XM_047447089.1:c.1942_1943insTAA	XM_047447089.1:c.1942_1943insTAAA	XM_047447089.1:c.1942_1943insTAAAA
RC3H1 transcript variant X4	XM_047447092.1:c.1942_1943=	XM_047447092.1:c.1942_1943insTA	XM_047447092.1:c.1942_1943insTTA	XM_047447092.1:c.1942_1943insTTTA	XM_047447092.1:c.1942_1943insTTTTA	XM_047447092.1:c.1942_1943insTAA	XM_047447092.1:c.1942_1943insTAAA	XM_047447092.1:c.1942_1943insTAAAA
RC3H1 transcript variant X6	XM_047447094.1:c.1942_1943=	XM_047447094.1:c.1942_1943insTA	XM_047447094.1:c.1942_1943insTTA	XM_047447094.1:c.1942_1943insTTTA	XM_047447094.1:c.1942_1943insTTTTA	XM_047447094.1:c.1942_1943insTAA	XM_047447094.1:c.1942_1943insTAAA	XM_047447094.1:c.1942_1943insTAAAA
RC3H1 transcript variant X10	XM_047447097.1:c.1942_1943=	XM_047447097.1:c.1942_1943insTA	XM_047447097.1:c.1942_1943insTTA	XM_047447097.1:c.1942_1943insTTTA	XM_047447097.1:c.1942_1943insTTTTA	XM_047447097.1:c.1942_1943insTAA	XM_047447097.1:c.1942_1943insTAAA	XM_047447097.1:c.1942_1943insTAAAA
RC3H1 transcript variant X11	XM_047447101.1:c.1942_1943=	XM_047447101.1:c.1942_1943insTA	XM_047447101.1:c.1942_1943insTTA	XM_047447101.1:c.1942_1943insTTTA	XM_047447101.1:c.1942_1943insTTTTA	XM_047447101.1:c.1942_1943insTAA	XM_047447101.1:c.1942_1943insTAAA	XM_047447101.1:c.1942_1943insTAAAA
RC3H1 transcript variant X12	XM_047447102.1:c.1942_1943=	XM_047447102.1:c.1942_1943insTA	XM_047447102.1:c.1942_1943insTTA	XM_047447102.1:c.1942_1943insTTTA	XM_047447102.1:c.1942_1943insTTTTA	XM_047447102.1:c.1942_1943insTAA	XM_047447102.1:c.1942_1943insTAAA	XM_047447102.1:c.1942_1943insTAAAA
RC3H1 transcript variant X2	XM_047447090.1:c.1942_1943=	XM_047447090.1:c.1942_1943insTA	XM_047447090.1:c.1942_1943insTTA	XM_047447090.1:c.1942_1943insTTTA	XM_047447090.1:c.1942_1943insTTTTA	XM_047447090.1:c.1942_1943insTAA	XM_047447090.1:c.1942_1943insTAAA	XM_047447090.1:c.1942_1943insTAAAA
RC3H1 transcript variant X3	XM_047447091.1:c.1942_1943=	XM_047447091.1:c.1942_1943insTA	XM_047447091.1:c.1942_1943insTTA	XM_047447091.1:c.1942_1943insTTTA	XM_047447091.1:c.1942_1943insTTTTA	XM_047447091.1:c.1942_1943insTAA	XM_047447091.1:c.1942_1943insTAAA	XM_047447091.1:c.1942_1943insTAAAA
RC3H1 transcript variant X13	XM_047447103.1:c.1942_1943=	XM_047447103.1:c.1942_1943insTA	XM_047447103.1:c.1942_1943insTTA	XM_047447103.1:c.1942_1943insTTTA	XM_047447103.1:c.1942_1943insTTTTA	XM_047447103.1:c.1942_1943insTAA	XM_047447103.1:c.1942_1943insTAAA	XM_047447103.1:c.1942_1943insTAAAA
RC3H1 transcript variant X15	XM_047447105.1:c.1942_1943=	XM_047447105.1:c.1942_1943insTA	XM_047447105.1:c.1942_1943insTTA	XM_047447105.1:c.1942_1943insTTTA	XM_047447105.1:c.1942_1943insTTTTA	XM_047447105.1:c.1942_1943insTAA	XM_047447105.1:c.1942_1943insTAAA	XM_047447105.1:c.1942_1943insTAAAA
RC3H1 transcript variant X5	XM_047447093.1:c.1942_1943=	XM_047447093.1:c.1942_1943insTA	XM_047447093.1:c.1942_1943insTTA	XM_047447093.1:c.1942_1943insTTTA	XM_047447093.1:c.1942_1943insTTTTA	XM_047447093.1:c.1942_1943insTAA	XM_047447093.1:c.1942_1943insTAAA	XM_047447093.1:c.1942_1943insTAAAA
RC3H1 transcript variant X7	XM_047447095.1:c.1942_1943=	XM_047447095.1:c.1942_1943insTA	XM_047447095.1:c.1942_1943insTTA	XM_047447095.1:c.1942_1943insTTTA	XM_047447095.1:c.1942_1943insTTTTA	XM_047447095.1:c.1942_1943insTAA	XM_047447095.1:c.1942_1943insTAAA	XM_047447095.1:c.1942_1943insTAAAA
RC3H1 transcript variant X9	XM_047447096.1:c.1942_1943=	XM_047447096.1:c.1942_1943insTA	XM_047447096.1:c.1942_1943insTTA	XM_047447096.1:c.1942_1943insTTTA	XM_047447096.1:c.1942_1943insTTTTA	XM_047447096.1:c.1942_1943insTAA	XM_047447096.1:c.1942_1943insTAAA	XM_047447096.1:c.1942_1943insTAAAA
RC3H1 transcript variant X16	XM_047447106.1:c.1942_1943=	XM_047447106.1:c.1942_1943insTA	XM_047447106.1:c.1942_1943insTTA	XM_047447106.1:c.1942_1943insTTTA	XM_047447106.1:c.1942_1943insTTTTA	XM_047447106.1:c.1942_1943insTAA	XM_047447106.1:c.1942_1943insTAAA	XM_047447106.1:c.1942_1943insTAAAA
RC3H1 transcript variant 1	NM_001300850.1:c.1942_1943=	NM_001300850.1:c.1942_1943insTA	NM_001300850.1:c.1942_1943insTTA	NM_001300850.1:c.1942_1943insTTTA	NM_001300850.1:c.1942_1943insTTTTA	NM_001300850.1:c.1942_1943insTAA	NM_001300850.1:c.1942_1943insTAAA	NM_001300850.1:c.1942_1943insTAAAA
RC3H1 transcript variant X14	XM_047447104.1:c.1942_1943=	XM_047447104.1:c.1942_1943insTA	XM_047447104.1:c.1942_1943insTTA	XM_047447104.1:c.1942_1943insTTTA	XM_047447104.1:c.1942_1943insTTTTA	XM_047447104.1:c.1942_1943insTAA	XM_047447104.1:c.1942_1943insTAAA	XM_047447104.1:c.1942_1943insTAAAA
RC3H1 transcript variant 3	NM_001300851.1:c.1942_1943=	NM_001300851.1:c.1942_1943insTA	NM_001300851.1:c.1942_1943insTTA	NM_001300851.1:c.1942_1943insTTTA	NM_001300851.1:c.1942_1943insTTTTA	NM_001300851.1:c.1942_1943insTAA	NM_001300851.1:c.1942_1943insTAAA	NM_001300851.1:c.1942_1943insTAAAA
RC3H1 transcript variant 4	NM_001300852.1:c.1942_1943=	NM_001300852.1:c.1942_1943insTA	NM_001300852.1:c.1942_1943insTTA	NM_001300852.1:c.1942_1943insTTTA	NM_001300852.1:c.1942_1943insTTTTA	NM_001300852.1:c.1942_1943insTAA	NM_001300852.1:c.1942_1943insTAAA	NM_001300852.1:c.1942_1943insTAAAA

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#.

8 SubSNP, 5 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss2987970178	Jan 10, 2018 (151)
2	EVA_DECODE	ss3688044914	Jul 12, 2019 (153)
3	GNOMAD	ss4006046428	Apr 25, 2021 (155)
4	GNOMAD	ss4006046429	Apr 25, 2021 (155)
5	GNOMAD	ss4006046430	Apr 25, 2021 (155)
6	GNOMAD	ss4006046431	Apr 25, 2021 (155)
7	1000G_HIGH_COVERAGE	ss5244759246	Oct 12, 2022 (156)
8	HUGCELL_USP	ss5445299947	Oct 12, 2022 (156)
9	gnomAD - Genomes Submission ignored due to conflicting rows: Row 30918019 (NC_000001.11:173936778::TA 2265/88670) Row 30918020 (NC_000001.11:173936778::TAA 1/88698) Row 30918021 (NC_000001.11:173936778::TAAA 2/88702)...	-	Apr 25, 2021 (155)
10	gnomAD - Genomes Submission ignored due to conflicting rows: Row 30918019 (NC_000001.11:173936778::TA 2265/88670) Row 30918020 (NC_000001.11:173936778::TAA 1/88698) Row 30918021 (NC_000001.11:173936778::TAAA 2/88702)...	-	Apr 25, 2021 (155)
11	gnomAD - Genomes Submission ignored due to conflicting rows: Row 30918019 (NC_000001.11:173936778::TA 2265/88670) Row 30918020 (NC_000001.11:173936778::TAA 1/88698) Row 30918021 (NC_000001.11:173936778::TAAA 2/88702)...	-	Apr 25, 2021 (155)
12	gnomAD - Genomes Submission ignored due to conflicting rows: Row 30918019 (NC_000001.11:173936778::TA 2265/88670) Row 30918020 (NC_000001.11:173936778::TAA 1/88698) Row 30918021 (NC_000001.11:173936778::TAAA 2/88702)...	-	Apr 25, 2021 (155)
13	ALFA	NC_000001.11 - 173936779	Apr 25, 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
ss2987970178	NC_000001.10:173905916::TA	NC_000001.11:173936778::TA	(self)
14996558641, ss4006046428, ss5244759246, ss5445299947	NC_000001.11:173936778::TA	NC_000001.11:173936778::TA	(self)
14996558641, ss4006046429	NC_000001.11:173936778::TAA	NC_000001.11:173936778::TAA	(self)
ss4006046430	NC_000001.11:173936778::TAAA	NC_000001.11:173936778::TAAA	(self)
ss4006046431	NC_000001.11:173936778::TAAAA	NC_000001.11:173936778::TAAAA	(self)
14996558641, ss3688044914	NC_000001.11:173936778::TTA	NC_000001.11:173936778::TTA	(self)
14996558641	NC_000001.11:173936778::TTTA	NC_000001.11:173936778::TTTA	(self)
14996558641	NC_000001.11:173936778::TTTTA	NC_000001.11:173936778::TTTTA	(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 rs1491144329

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

Placement	=	insTA	insTAA	insTAAA	insT(A)₄	insTTA	insTTTA	ins(T)₄A
GRCh38.p14 chr 1	NC_000001.11:g.173936778_173936779=	NC_000001.11:g.173936778_173936779insTA	NC_000001.11:g.173936778_173936779insTAA	NC_000001.11:g.173936778_173936779insTAAA	NC_000001.11:g.173936778_173936779insTAAAA	NC_000001.11:g.173936778_173936779insTTA	NC_000001.11:g.173936778_173936779insTTTA	NC_000001.11:g.173936778_173936779insTTTTA
GRCh37.p13 chr 1	NC_000001.10:g.173905916_173905917=	NC_000001.10:g.173905916_173905917insTA	NC_000001.10:g.173905916_173905917insTAA	NC_000001.10:g.173905916_173905917insTAAA	NC_000001.10:g.173905916_173905917insTAAAA	NC_000001.10:g.173905916_173905917insTTA	NC_000001.10:g.173905916_173905917insTTTA	NC_000001.10:g.173905916_173905917insTTTTA
RC3H1 transcript variant 2	NM_172071.4:c.1942_1943=	NM_172071.4:c.1942_1943insTA	NM_172071.4:c.1942_1943insTTA	NM_172071.4:c.1942_1943insTTTA	NM_172071.4:c.1942_1943insTTTTA	NM_172071.4:c.1942_1943insTAA	NM_172071.4:c.1942_1943insTAAA	NM_172071.4:c.1942_1943insTAAAA
RC3H1 transcript variant 2	NM_172071.3:c.1942_1943=	NM_172071.3:c.1942_1943insTA	NM_172071.3:c.1942_1943insTTA	NM_172071.3:c.1942_1943insTTTA	NM_172071.3:c.1942_1943insTTTTA	NM_172071.3:c.1942_1943insTAA	NM_172071.3:c.1942_1943insTAAA	NM_172071.3:c.1942_1943insTAAAA
RC3H1 transcript	NM_172071.2:c.1942_1943=	NM_172071.2:c.1942_1943insTA	NM_172071.2:c.1942_1943insTTA	NM_172071.2:c.1942_1943insTTTA	NM_172071.2:c.1942_1943insTTTTA	NM_172071.2:c.1942_1943insTAA	NM_172071.2:c.1942_1943insTAAA	NM_172071.2:c.1942_1943insTAAAA
RC3H1 transcript variant X8	XM_005244921.4:c.1942_1943=	XM_005244921.4:c.1942_1943insTA	XM_005244921.4:c.1942_1943insTTA	XM_005244921.4:c.1942_1943insTTTA	XM_005244921.4:c.1942_1943insTTTTA	XM_005244921.4:c.1942_1943insTAA	XM_005244921.4:c.1942_1943insTAAA	XM_005244921.4:c.1942_1943insTAAAA
RC3H1 transcript variant X1	XM_005244921.3:c.1942_1943=	XM_005244921.3:c.1942_1943insTA	XM_005244921.3:c.1942_1943insTTA	XM_005244921.3:c.1942_1943insTTTA	XM_005244921.3:c.1942_1943insTTTTA	XM_005244921.3:c.1942_1943insTAA	XM_005244921.3:c.1942_1943insTAAA	XM_005244921.3:c.1942_1943insTAAAA
RC3H1 transcript variant X1	XM_047447089.1:c.1942_1943=	XM_047447089.1:c.1942_1943insTA	XM_047447089.1:c.1942_1943insTTA	XM_047447089.1:c.1942_1943insTTTA	XM_047447089.1:c.1942_1943insTTTTA	XM_047447089.1:c.1942_1943insTAA	XM_047447089.1:c.1942_1943insTAAA	XM_047447089.1:c.1942_1943insTAAAA
RC3H1 transcript variant X4	XM_047447092.1:c.1942_1943=	XM_047447092.1:c.1942_1943insTA	XM_047447092.1:c.1942_1943insTTA	XM_047447092.1:c.1942_1943insTTTA	XM_047447092.1:c.1942_1943insTTTTA	XM_047447092.1:c.1942_1943insTAA	XM_047447092.1:c.1942_1943insTAAA	XM_047447092.1:c.1942_1943insTAAAA
RC3H1 transcript variant X6	XM_047447094.1:c.1942_1943=	XM_047447094.1:c.1942_1943insTA	XM_047447094.1:c.1942_1943insTTA	XM_047447094.1:c.1942_1943insTTTA	XM_047447094.1:c.1942_1943insTTTTA	XM_047447094.1:c.1942_1943insTAA	XM_047447094.1:c.1942_1943insTAAA	XM_047447094.1:c.1942_1943insTAAAA
RC3H1 transcript variant X10	XM_047447097.1:c.1942_1943=	XM_047447097.1:c.1942_1943insTA	XM_047447097.1:c.1942_1943insTTA	XM_047447097.1:c.1942_1943insTTTA	XM_047447097.1:c.1942_1943insTTTTA	XM_047447097.1:c.1942_1943insTAA	XM_047447097.1:c.1942_1943insTAAA	XM_047447097.1:c.1942_1943insTAAAA
RC3H1 transcript variant X11	XM_047447101.1:c.1942_1943=	XM_047447101.1:c.1942_1943insTA	XM_047447101.1:c.1942_1943insTTA	XM_047447101.1:c.1942_1943insTTTA	XM_047447101.1:c.1942_1943insTTTTA	XM_047447101.1:c.1942_1943insTAA	XM_047447101.1:c.1942_1943insTAAA	XM_047447101.1:c.1942_1943insTAAAA
RC3H1 transcript variant X12	XM_047447102.1:c.1942_1943=	XM_047447102.1:c.1942_1943insTA	XM_047447102.1:c.1942_1943insTTA	XM_047447102.1:c.1942_1943insTTTA	XM_047447102.1:c.1942_1943insTTTTA	XM_047447102.1:c.1942_1943insTAA	XM_047447102.1:c.1942_1943insTAAA	XM_047447102.1:c.1942_1943insTAAAA
RC3H1 transcript variant X2	XM_047447090.1:c.1942_1943=	XM_047447090.1:c.1942_1943insTA	XM_047447090.1:c.1942_1943insTTA	XM_047447090.1:c.1942_1943insTTTA	XM_047447090.1:c.1942_1943insTTTTA	XM_047447090.1:c.1942_1943insTAA	XM_047447090.1:c.1942_1943insTAAA	XM_047447090.1:c.1942_1943insTAAAA
RC3H1 transcript variant X3	XM_047447091.1:c.1942_1943=	XM_047447091.1:c.1942_1943insTA	XM_047447091.1:c.1942_1943insTTA	XM_047447091.1:c.1942_1943insTTTA	XM_047447091.1:c.1942_1943insTTTTA	XM_047447091.1:c.1942_1943insTAA	XM_047447091.1:c.1942_1943insTAAA	XM_047447091.1:c.1942_1943insTAAAA
RC3H1 transcript variant X13	XM_047447103.1:c.1942_1943=	XM_047447103.1:c.1942_1943insTA	XM_047447103.1:c.1942_1943insTTA	XM_047447103.1:c.1942_1943insTTTA	XM_047447103.1:c.1942_1943insTTTTA	XM_047447103.1:c.1942_1943insTAA	XM_047447103.1:c.1942_1943insTAAA	XM_047447103.1:c.1942_1943insTAAAA
RC3H1 transcript variant X15	XM_047447105.1:c.1942_1943=	XM_047447105.1:c.1942_1943insTA	XM_047447105.1:c.1942_1943insTTA	XM_047447105.1:c.1942_1943insTTTA	XM_047447105.1:c.1942_1943insTTTTA	XM_047447105.1:c.1942_1943insTAA	XM_047447105.1:c.1942_1943insTAAA	XM_047447105.1:c.1942_1943insTAAAA
RC3H1 transcript variant X5	XM_047447093.1:c.1942_1943=	XM_047447093.1:c.1942_1943insTA	XM_047447093.1:c.1942_1943insTTA	XM_047447093.1:c.1942_1943insTTTA	XM_047447093.1:c.1942_1943insTTTTA	XM_047447093.1:c.1942_1943insTAA	XM_047447093.1:c.1942_1943insTAAA	XM_047447093.1:c.1942_1943insTAAAA
RC3H1 transcript variant X7	XM_047447095.1:c.1942_1943=	XM_047447095.1:c.1942_1943insTA	XM_047447095.1:c.1942_1943insTTA	XM_047447095.1:c.1942_1943insTTTA	XM_047447095.1:c.1942_1943insTTTTA	XM_047447095.1:c.1942_1943insTAA	XM_047447095.1:c.1942_1943insTAAA	XM_047447095.1:c.1942_1943insTAAAA
RC3H1 transcript variant X9	XM_047447096.1:c.1942_1943=	XM_047447096.1:c.1942_1943insTA	XM_047447096.1:c.1942_1943insTTA	XM_047447096.1:c.1942_1943insTTTA	XM_047447096.1:c.1942_1943insTTTTA	XM_047447096.1:c.1942_1943insTAA	XM_047447096.1:c.1942_1943insTAAA	XM_047447096.1:c.1942_1943insTAAAA
RC3H1 transcript variant X16	XM_047447106.1:c.1942_1943=	XM_047447106.1:c.1942_1943insTA	XM_047447106.1:c.1942_1943insTTA	XM_047447106.1:c.1942_1943insTTTA	XM_047447106.1:c.1942_1943insTTTTA	XM_047447106.1:c.1942_1943insTAA	XM_047447106.1:c.1942_1943insTAAA	XM_047447106.1:c.1942_1943insTAAAA
RC3H1 transcript variant 1	NM_001300850.1:c.1942_1943=	NM_001300850.1:c.1942_1943insTA	NM_001300850.1:c.1942_1943insTTA	NM_001300850.1:c.1942_1943insTTTA	NM_001300850.1:c.1942_1943insTTTTA	NM_001300850.1:c.1942_1943insTAA	NM_001300850.1:c.1942_1943insTAAA	NM_001300850.1:c.1942_1943insTAAAA
RC3H1 transcript variant X14	XM_047447104.1:c.1942_1943=	XM_047447104.1:c.1942_1943insTA	XM_047447104.1:c.1942_1943insTTA	XM_047447104.1:c.1942_1943insTTTA	XM_047447104.1:c.1942_1943insTTTTA	XM_047447104.1:c.1942_1943insTAA	XM_047447104.1:c.1942_1943insTAAA	XM_047447104.1:c.1942_1943insTAAAA
RC3H1 transcript variant 3	NM_001300851.1:c.1942_1943=	NM_001300851.1:c.1942_1943insTA	NM_001300851.1:c.1942_1943insTTA	NM_001300851.1:c.1942_1943insTTTA	NM_001300851.1:c.1942_1943insTTTTA	NM_001300851.1:c.1942_1943insTAA	NM_001300851.1:c.1942_1943insTAAA	NM_001300851.1:c.1942_1943insTAAAA
RC3H1 transcript variant 4	NM_001300852.1:c.1942_1943=	NM_001300852.1:c.1942_1943insTA	NM_001300852.1:c.1942_1943insTTA	NM_001300852.1:c.1942_1943insTTTA	NM_001300852.1:c.1942_1943insTTTTA	NM_001300852.1:c.1942_1943insTAA	NM_001300852.1:c.1942_1943insTAAA	NM_001300852.1:c.1942_1943insTAAAA

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491144329