Name: rs35121141
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.

rs35121141

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:201205229-201205242 (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: delTTT / delTT / delT / dupT / dup…
delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₁₁ / ins(T)₁₆
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.03061 (414/13526, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CASP10 : 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	13526	TTTTTTTTTTTTTT=0.96932	TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.03061, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00007, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000	0.944247	0.005472	0.050281	32
European	Sub	9904	TTTTTTTTTTTTTT=0.9581	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0418, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	0.923854	0.007473	0.068673	32
African	Sub	2490	TTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	104	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African American	Sub	2386	TTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	104	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	80	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	114	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	470	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	84	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	360	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	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	13526	(T)₁₄=0.96932	delTT=0.00000, delT=0.00000, dupT=0.03061, dupTT=0.00000, dup(T)₄=0.00000, ins(T)₁₆=0.00007
Allele Frequency Aggregator	European	Sub	9904	(T)₁₄=0.9581	delTT=0.0000, delT=0.0000, dupT=0.0418, dupTT=0.0000, dup(T)₄=0.0000, ins(T)₁₆=0.0001
Allele Frequency Aggregator	African	Sub	2490	(T)₁₄=1.0000	delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dup(T)₄=0.0000, ins(T)₁₆=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	470	(T)₁₄=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₄=0.000, ins(T)₁₆=0.000
Allele Frequency Aggregator	Other	Sub	360	(T)₁₄=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₄=0.000, ins(T)₁₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	114	(T)₁₄=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₄=0.000, ins(T)₁₆=0.000
Allele Frequency Aggregator	Asian	Sub	104	(T)₁₄=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₄=0.000, ins(T)₁₆=0.000
Allele Frequency Aggregator	South Asian	Sub	84	(T)₁₄=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₄=0.00, ins(T)₁₆=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 2	NC_000002.12:g.201205240_201205242del
GRCh38.p14 chr 2	NC_000002.12:g.201205241_201205242del
GRCh38.p14 chr 2	NC_000002.12:g.201205242del
GRCh38.p14 chr 2	NC_000002.12:g.201205242dup
GRCh38.p14 chr 2	NC_000002.12:g.201205241_201205242dup
GRCh38.p14 chr 2	NC_000002.12:g.201205240_201205242dup
GRCh38.p14 chr 2	NC_000002.12:g.201205239_201205242dup
GRCh38.p14 chr 2	NC_000002.12:g.201205238_201205242dup
GRCh38.p14 chr 2	NC_000002.12:g.201205237_201205242dup
GRCh38.p14 chr 2	NC_000002.12:g.201205232_201205242dup
GRCh38.p14 chr 2	NC_000002.12:g.201205242_201205243insTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.202069963_202069965del
GRCh37.p13 chr 2	NC_000002.11:g.202069964_202069965del
GRCh37.p13 chr 2	NC_000002.11:g.202069965del
GRCh37.p13 chr 2	NC_000002.11:g.202069965dup
GRCh37.p13 chr 2	NC_000002.11:g.202069964_202069965dup
GRCh37.p13 chr 2	NC_000002.11:g.202069963_202069965dup
GRCh37.p13 chr 2	NC_000002.11:g.202069962_202069965dup
GRCh37.p13 chr 2	NC_000002.11:g.202069961_202069965dup
GRCh37.p13 chr 2	NC_000002.11:g.202069960_202069965dup
GRCh37.p13 chr 2	NC_000002.11:g.202069955_202069965dup
GRCh37.p13 chr 2	NC_000002.11:g.202069965_202069966insTTTTTTTTTTTTTTTT
CASP10 RefSeqGene (LRG_33)	NG_007265.1:g.27109_27111del
CASP10 RefSeqGene (LRG_33)	NG_007265.1:g.27110_27111del
CASP10 RefSeqGene (LRG_33)	NG_007265.1:g.27111del
CASP10 RefSeqGene (LRG_33)	NG_007265.1:g.27111dup
CASP10 RefSeqGene (LRG_33)	NG_007265.1:g.27110_27111dup
CASP10 RefSeqGene (LRG_33)	NG_007265.1:g.27109_27111dup
CASP10 RefSeqGene (LRG_33)	NG_007265.1:g.27108_27111dup
CASP10 RefSeqGene (LRG_33)	NG_007265.1:g.27107_27111dup
CASP10 RefSeqGene (LRG_33)	NG_007265.1:g.27106_27111dup
CASP10 RefSeqGene (LRG_33)	NG_007265.1:g.27101_27111dup
CASP10 RefSeqGene (LRG_33)	NG_007265.1:g.27111_27112insTTTTTTTTTTTTTTTT

Gene: CASP10, caspase 10 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CASP10 transcript variant 6	NM_001206524.2:c.721+1474… NM_001206524.2:c.721+1474_721+1476del	N/A	Intron Variant
CASP10 transcript variant 5	NM_001206542.2:c.685-2835… NM_001206542.2:c.685-2835_685-2833del	N/A	Intron Variant
CASP10 transcript variant 3	NM_001230.5:c.685-2835_68… NM_001230.5:c.685-2835_685-2833del	N/A	Intron Variant
CASP10 transcript variant 2	NM_032974.5:c.722-642_722… NM_032974.5:c.722-642_722-640del	N/A	Intron Variant
CASP10 transcript variant 4	NM_032976.4:c.721+1474_72… NM_032976.4:c.721+1474_721+1476del	N/A	Intron Variant
CASP10 transcript variant 1	NM_032977.4:c.722-642_722… NM_032977.4:c.722-642_722-640del	N/A	Intron Variant
CASP10 transcript variant 7	NM_001306083.2:c.	N/A	Genic Downstream Transcript Variant
CASP10 transcript variant X1	XM_005246907.3:c.719-642_… XM_005246907.3:c.719-642_719-640del	N/A	Intron Variant
CASP10 transcript variant X5	XM_047446016.1:c.63+1474_… XM_047446016.1:c.63+1474_63+1476del	N/A	Intron Variant
CASP10 transcript variant X4	XR_007082551.1:n.	N/A	Intron Variant
CASP10 transcript variant X2	XR_923043.3:n.	N/A	Intron Variant
CASP10 transcript variant X3	XR_923044.3: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	(T)₁₄=	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₁₁	ins(T)₁₆
GRCh38.p14 chr 2	NC_000002.12:g.201205229_201205242=	NC_000002.12:g.201205240_201205242del	NC_000002.12:g.201205241_201205242del	NC_000002.12:g.201205242del	NC_000002.12:g.201205242dup	NC_000002.12:g.201205241_201205242dup	NC_000002.12:g.201205240_201205242dup	NC_000002.12:g.201205239_201205242dup	NC_000002.12:g.201205238_201205242dup	NC_000002.12:g.201205237_201205242dup	NC_000002.12:g.201205232_201205242dup	NC_000002.12:g.201205242_201205243insTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2	NC_000002.11:g.202069952_202069965=	NC_000002.11:g.202069963_202069965del	NC_000002.11:g.202069964_202069965del	NC_000002.11:g.202069965del	NC_000002.11:g.202069965dup	NC_000002.11:g.202069964_202069965dup	NC_000002.11:g.202069963_202069965dup	NC_000002.11:g.202069962_202069965dup	NC_000002.11:g.202069961_202069965dup	NC_000002.11:g.202069960_202069965dup	NC_000002.11:g.202069955_202069965dup	NC_000002.11:g.202069965_202069966insTTTTTTTTTTTTTTTT
CASP10 RefSeqGene (LRG_33)	NG_007265.1:g.27098_27111=	NG_007265.1:g.27109_27111del	NG_007265.1:g.27110_27111del	NG_007265.1:g.27111del	NG_007265.1:g.27111dup	NG_007265.1:g.27110_27111dup	NG_007265.1:g.27109_27111dup	NG_007265.1:g.27108_27111dup	NG_007265.1:g.27107_27111dup	NG_007265.1:g.27106_27111dup	NG_007265.1:g.27101_27111dup	NG_007265.1:g.27111_27112insTTTTTTTTTTTTTTTT
CASP10 transcript variant 6	NM_001206524.1:c.721+1463=	NM_001206524.1:c.721+1474_721+1476del	NM_001206524.1:c.721+1475_721+1476del	NM_001206524.1:c.721+1476del	NM_001206524.1:c.721+1476dup	NM_001206524.1:c.721+1475_721+1476dup	NM_001206524.1:c.721+1474_721+1476dup	NM_001206524.1:c.721+1473_721+1476dup	NM_001206524.1:c.721+1472_721+1476dup	NM_001206524.1:c.721+1471_721+1476dup	NM_001206524.1:c.721+1466_721+1476dup	NM_001206524.1:c.721+1476_721+1477insTTTTTTTTTTTTTTTT
CASP10 transcript variant 6	NM_001206524.2:c.721+1463=	NM_001206524.2:c.721+1474_721+1476del	NM_001206524.2:c.721+1475_721+1476del	NM_001206524.2:c.721+1476del	NM_001206524.2:c.721+1476dup	NM_001206524.2:c.721+1475_721+1476dup	NM_001206524.2:c.721+1474_721+1476dup	NM_001206524.2:c.721+1473_721+1476dup	NM_001206524.2:c.721+1472_721+1476dup	NM_001206524.2:c.721+1471_721+1476dup	NM_001206524.2:c.721+1466_721+1476dup	NM_001206524.2:c.721+1476_721+1477insTTTTTTTTTTTTTTTT
CASP10 transcript variant 5	NM_001206542.1:c.685-2846=	NM_001206542.1:c.685-2835_685-2833del	NM_001206542.1:c.685-2834_685-2833del	NM_001206542.1:c.685-2833del	NM_001206542.1:c.685-2833dup	NM_001206542.1:c.685-2834_685-2833dup	NM_001206542.1:c.685-2835_685-2833dup	NM_001206542.1:c.685-2836_685-2833dup	NM_001206542.1:c.685-2837_685-2833dup	NM_001206542.1:c.685-2838_685-2833dup	NM_001206542.1:c.685-2843_685-2833dup	NM_001206542.1:c.685-2833_685-2832insTTTTTTTTTTTTTTTT
CASP10 transcript variant 5	NM_001206542.2:c.685-2846=	NM_001206542.2:c.685-2835_685-2833del	NM_001206542.2:c.685-2834_685-2833del	NM_001206542.2:c.685-2833del	NM_001206542.2:c.685-2833dup	NM_001206542.2:c.685-2834_685-2833dup	NM_001206542.2:c.685-2835_685-2833dup	NM_001206542.2:c.685-2836_685-2833dup	NM_001206542.2:c.685-2837_685-2833dup	NM_001206542.2:c.685-2838_685-2833dup	NM_001206542.2:c.685-2843_685-2833dup	NM_001206542.2:c.685-2833_685-2832insTTTTTTTTTTTTTTTT
CASP10 transcript variant 3	NM_001230.4:c.685-2846=	NM_001230.4:c.685-2835_685-2833del	NM_001230.4:c.685-2834_685-2833del	NM_001230.4:c.685-2833del	NM_001230.4:c.685-2833dup	NM_001230.4:c.685-2834_685-2833dup	NM_001230.4:c.685-2835_685-2833dup	NM_001230.4:c.685-2836_685-2833dup	NM_001230.4:c.685-2837_685-2833dup	NM_001230.4:c.685-2838_685-2833dup	NM_001230.4:c.685-2843_685-2833dup	NM_001230.4:c.685-2833_685-2832insTTTTTTTTTTTTTTTT
CASP10 transcript variant 3	NM_001230.5:c.685-2846=	NM_001230.5:c.685-2835_685-2833del	NM_001230.5:c.685-2834_685-2833del	NM_001230.5:c.685-2833del	NM_001230.5:c.685-2833dup	NM_001230.5:c.685-2834_685-2833dup	NM_001230.5:c.685-2835_685-2833dup	NM_001230.5:c.685-2836_685-2833dup	NM_001230.5:c.685-2837_685-2833dup	NM_001230.5:c.685-2838_685-2833dup	NM_001230.5:c.685-2843_685-2833dup	NM_001230.5:c.685-2833_685-2832insTTTTTTTTTTTTTTTT
CASP10 transcript variant 2	NM_032974.4:c.722-653=	NM_032974.4:c.722-642_722-640del	NM_032974.4:c.722-641_722-640del	NM_032974.4:c.722-640del	NM_032974.4:c.722-640dup	NM_032974.4:c.722-641_722-640dup	NM_032974.4:c.722-642_722-640dup	NM_032974.4:c.722-643_722-640dup	NM_032974.4:c.722-644_722-640dup	NM_032974.4:c.722-645_722-640dup	NM_032974.4:c.722-650_722-640dup	NM_032974.4:c.722-640_722-639insTTTTTTTTTTTTTTTT
CASP10 transcript variant 2	NM_032974.5:c.722-653=	NM_032974.5:c.722-642_722-640del	NM_032974.5:c.722-641_722-640del	NM_032974.5:c.722-640del	NM_032974.5:c.722-640dup	NM_032974.5:c.722-641_722-640dup	NM_032974.5:c.722-642_722-640dup	NM_032974.5:c.722-643_722-640dup	NM_032974.5:c.722-644_722-640dup	NM_032974.5:c.722-645_722-640dup	NM_032974.5:c.722-650_722-640dup	NM_032974.5:c.722-640_722-639insTTTTTTTTTTTTTTTT
CASP10 transcript variant 4	NM_032976.3:c.721+1463=	NM_032976.3:c.721+1474_721+1476del	NM_032976.3:c.721+1475_721+1476del	NM_032976.3:c.721+1476del	NM_032976.3:c.721+1476dup	NM_032976.3:c.721+1475_721+1476dup	NM_032976.3:c.721+1474_721+1476dup	NM_032976.3:c.721+1473_721+1476dup	NM_032976.3:c.721+1472_721+1476dup	NM_032976.3:c.721+1471_721+1476dup	NM_032976.3:c.721+1466_721+1476dup	NM_032976.3:c.721+1476_721+1477insTTTTTTTTTTTTTTTT
CASP10 transcript variant 4	NM_032976.4:c.721+1463=	NM_032976.4:c.721+1474_721+1476del	NM_032976.4:c.721+1475_721+1476del	NM_032976.4:c.721+1476del	NM_032976.4:c.721+1476dup	NM_032976.4:c.721+1475_721+1476dup	NM_032976.4:c.721+1474_721+1476dup	NM_032976.4:c.721+1473_721+1476dup	NM_032976.4:c.721+1472_721+1476dup	NM_032976.4:c.721+1471_721+1476dup	NM_032976.4:c.721+1466_721+1476dup	NM_032976.4:c.721+1476_721+1477insTTTTTTTTTTTTTTTT
CASP10 transcript variant 1	NM_032977.3:c.722-653=	NM_032977.3:c.722-642_722-640del	NM_032977.3:c.722-641_722-640del	NM_032977.3:c.722-640del	NM_032977.3:c.722-640dup	NM_032977.3:c.722-641_722-640dup	NM_032977.3:c.722-642_722-640dup	NM_032977.3:c.722-643_722-640dup	NM_032977.3:c.722-644_722-640dup	NM_032977.3:c.722-645_722-640dup	NM_032977.3:c.722-650_722-640dup	NM_032977.3:c.722-640_722-639insTTTTTTTTTTTTTTTT
CASP10 transcript variant 1	NM_032977.4:c.722-653=	NM_032977.4:c.722-642_722-640del	NM_032977.4:c.722-641_722-640del	NM_032977.4:c.722-640del	NM_032977.4:c.722-640dup	NM_032977.4:c.722-641_722-640dup	NM_032977.4:c.722-642_722-640dup	NM_032977.4:c.722-643_722-640dup	NM_032977.4:c.722-644_722-640dup	NM_032977.4:c.722-645_722-640dup	NM_032977.4:c.722-650_722-640dup	NM_032977.4:c.722-640_722-639insTTTTTTTTTTTTTTTT
CASP10 transcript variant X1	XM_005246907.1:c.719-653=	XM_005246907.1:c.719-642_719-640del	XM_005246907.1:c.719-641_719-640del	XM_005246907.1:c.719-640del	XM_005246907.1:c.719-640dup	XM_005246907.1:c.719-641_719-640dup	XM_005246907.1:c.719-642_719-640dup	XM_005246907.1:c.719-643_719-640dup	XM_005246907.1:c.719-644_719-640dup	XM_005246907.1:c.719-645_719-640dup	XM_005246907.1:c.719-650_719-640dup	XM_005246907.1:c.719-640_719-639insTTTTTTTTTTTTTTTT
CASP10 transcript variant X1	XM_005246907.3:c.719-653=	XM_005246907.3:c.719-642_719-640del	XM_005246907.3:c.719-641_719-640del	XM_005246907.3:c.719-640del	XM_005246907.3:c.719-640dup	XM_005246907.3:c.719-641_719-640dup	XM_005246907.3:c.719-642_719-640dup	XM_005246907.3:c.719-643_719-640dup	XM_005246907.3:c.719-644_719-640dup	XM_005246907.3:c.719-645_719-640dup	XM_005246907.3:c.719-650_719-640dup	XM_005246907.3:c.719-640_719-639insTTTTTTTTTTTTTTTT
CASP10 transcript variant X2	XM_005246908.1:c.442-2846=	XM_005246908.1:c.442-2835_442-2833del	XM_005246908.1:c.442-2834_442-2833del	XM_005246908.1:c.442-2833del	XM_005246908.1:c.442-2833dup	XM_005246908.1:c.442-2834_442-2833dup	XM_005246908.1:c.442-2835_442-2833dup	XM_005246908.1:c.442-2836_442-2833dup	XM_005246908.1:c.442-2837_442-2833dup	XM_005246908.1:c.442-2838_442-2833dup	XM_005246908.1:c.442-2843_442-2833dup	XM_005246908.1:c.442-2833_442-2832insTTTTTTTTTTTTTTTT
CASP10 transcript variant X3	XM_005246909.1:c.722-653=	XM_005246909.1:c.722-642_722-640del	XM_005246909.1:c.722-641_722-640del	XM_005246909.1:c.722-640del	XM_005246909.1:c.722-640dup	XM_005246909.1:c.722-641_722-640dup	XM_005246909.1:c.722-642_722-640dup	XM_005246909.1:c.722-643_722-640dup	XM_005246909.1:c.722-644_722-640dup	XM_005246909.1:c.722-645_722-640dup	XM_005246909.1:c.722-650_722-640dup	XM_005246909.1:c.722-640_722-639insTTTTTTTTTTTTTTTT
CASP10 transcript variant X4	XM_005246910.1:c.721+1463=	XM_005246910.1:c.721+1474_721+1476del	XM_005246910.1:c.721+1475_721+1476del	XM_005246910.1:c.721+1476del	XM_005246910.1:c.721+1476dup	XM_005246910.1:c.721+1475_721+1476dup	XM_005246910.1:c.721+1474_721+1476dup	XM_005246910.1:c.721+1473_721+1476dup	XM_005246910.1:c.721+1472_721+1476dup	XM_005246910.1:c.721+1471_721+1476dup	XM_005246910.1:c.721+1466_721+1476dup	XM_005246910.1:c.721+1476_721+1477insTTTTTTTTTTTTTTTT
CASP10 transcript variant X5	XM_047446016.1:c.63+1463=	XM_047446016.1:c.63+1474_63+1476del	XM_047446016.1:c.63+1475_63+1476del	XM_047446016.1:c.63+1476del	XM_047446016.1:c.63+1476dup	XM_047446016.1:c.63+1475_63+1476dup	XM_047446016.1:c.63+1474_63+1476dup	XM_047446016.1:c.63+1473_63+1476dup	XM_047446016.1:c.63+1472_63+1476dup	XM_047446016.1:c.63+1471_63+1476dup	XM_047446016.1:c.63+1466_63+1476dup	XM_047446016.1:c.63+1476_63+1477insTTTTTTTTTTTTTTTT

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#.

42 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41664257	Mar 14, 2006 (126)
2	SSIP	ss947072718	Aug 21, 2014 (142)
3	DDI	ss1536325774	Apr 01, 2015 (144)
4	HAMMER_LAB	ss1798194325	Sep 08, 2015 (146)
5	SWEGEN	ss2991184984	Nov 08, 2017 (151)
6	MCHAISSO	ss3064829347	Nov 08, 2017 (151)
7	EVA_DECODE	ss3705812909	Jul 13, 2019 (153)
8	EVA_DECODE	ss3705812910	Jul 13, 2019 (153)
9	EVA_DECODE	ss3705812911	Jul 13, 2019 (153)
10	EVA_DECODE	ss3705812912	Jul 13, 2019 (153)
11	EVA_DECODE	ss3705812913	Jul 13, 2019 (153)
12	EVA_DECODE	ss3705812914	Jul 13, 2019 (153)
13	ACPOP	ss3729279193	Jul 13, 2019 (153)
14	ACPOP	ss3729279194	Jul 13, 2019 (153)
15	PACBIO	ss3784123351	Jul 13, 2019 (153)
16	EVA	ss3837145261	Apr 25, 2020 (154)
17	EVA	ss3842566437	Apr 25, 2020 (154)
18	GNOMAD	ss4059189202	Apr 26, 2021 (155)
19	GNOMAD	ss4059189203	Apr 26, 2021 (155)
20	GNOMAD	ss4059189204	Apr 26, 2021 (155)
21	GNOMAD	ss4059189205	Apr 26, 2021 (155)
22	GNOMAD	ss4059189207	Apr 26, 2021 (155)
23	GNOMAD	ss4059189208	Apr 26, 2021 (155)
24	GNOMAD	ss4059189209	Apr 26, 2021 (155)
25	GNOMAD	ss4059189210	Apr 26, 2021 (155)
26	GNOMAD	ss4059189211	Apr 26, 2021 (155)
27	GNOMAD	ss4059189212	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5156015583	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5156015584	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5156015585	Apr 26, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5251659508	Oct 13, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5251659509	Oct 13, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5251659510	Oct 13, 2022 (156)
34	HUGCELL_USP	ss5451309851	Oct 13, 2022 (156)
35	HUGCELL_USP	ss5451309852	Oct 13, 2022 (156)
36	HUGCELL_USP	ss5451309853	Oct 13, 2022 (156)
37	TOMMO_GENOMICS	ss5686756862	Oct 13, 2022 (156)
38	TOMMO_GENOMICS	ss5686756863	Oct 13, 2022 (156)
39	TOMMO_GENOMICS	ss5686756864	Oct 13, 2022 (156)
40	YY_MCH	ss5803134676	Oct 13, 2022 (156)
41	EVA	ss5852910924	Oct 13, 2022 (156)
42	EVA	ss5980105698	Oct 13, 2022 (156)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87777917 (NC_000002.12:201205228::T 15193/127458) Row 87777918 (NC_000002.12:201205228::TT 512/127504) Row 87777919 (NC_000002.12:201205228::TTT 2/127518)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87777917 (NC_000002.12:201205228::T 15193/127458) Row 87777918 (NC_000002.12:201205228::TT 512/127504) Row 87777919 (NC_000002.12:201205228::TTT 2/127518)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87777917 (NC_000002.12:201205228::T 15193/127458) Row 87777918 (NC_000002.12:201205228::TT 512/127504) Row 87777919 (NC_000002.12:201205228::TTT 2/127518)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87777917 (NC_000002.12:201205228::T 15193/127458) Row 87777918 (NC_000002.12:201205228::TT 512/127504) Row 87777919 (NC_000002.12:201205228::TTT 2/127518)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87777917 (NC_000002.12:201205228::T 15193/127458) Row 87777918 (NC_000002.12:201205228::TT 512/127504) Row 87777919 (NC_000002.12:201205228::TTT 2/127518)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87777917 (NC_000002.12:201205228::T 15193/127458) Row 87777918 (NC_000002.12:201205228::TT 512/127504) Row 87777919 (NC_000002.12:201205228::TTT 2/127518)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87777917 (NC_000002.12:201205228::T 15193/127458) Row 87777918 (NC_000002.12:201205228::TT 512/127504) Row 87777919 (NC_000002.12:201205228::TTT 2/127518)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87777917 (NC_000002.12:201205228::T 15193/127458) Row 87777918 (NC_000002.12:201205228::TT 512/127504) Row 87777919 (NC_000002.12:201205228::TTT 2/127518)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87777917 (NC_000002.12:201205228::T 15193/127458) Row 87777918 (NC_000002.12:201205228::TT 512/127504) Row 87777919 (NC_000002.12:201205228::TTT 2/127518)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 87777917 (NC_000002.12:201205228::T 15193/127458) Row 87777918 (NC_000002.12:201205228::TT 512/127504) Row 87777919 (NC_000002.12:201205228::TTT 2/127518)...	-	Apr 26, 2021 (155)
53	Northern Sweden Submission ignored due to conflicting rows: Row 2564058 (NC_000002.11:202069951::T 41/600) Row 2564059 (NC_000002.11:202069951::TTTTT 1/600)	-	Jul 13, 2019 (153)
54	Northern Sweden Submission ignored due to conflicting rows: Row 2564058 (NC_000002.11:202069951::T 41/600) Row 2564059 (NC_000002.11:202069951::TTTTT 1/600)	-	Jul 13, 2019 (153)
55	8.3KJPN Submission ignored due to conflicting rows: Row 13984890 (NC_000002.11:202069951::T 387/16756) Row 13984891 (NC_000002.11:202069951:T: 21/16756) Row 13984892 (NC_000002.11:202069951::TT 1/16756)	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 13984890 (NC_000002.11:202069951::T 387/16756) Row 13984891 (NC_000002.11:202069951:T: 21/16756) Row 13984892 (NC_000002.11:202069951::TT 1/16756)	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 13984890 (NC_000002.11:202069951::T 387/16756) Row 13984891 (NC_000002.11:202069951:T: 21/16756) Row 13984892 (NC_000002.11:202069951::TT 1/16756)	-	Apr 26, 2021 (155)
58	14KJPN Submission ignored due to conflicting rows: Row 20593966 (NC_000002.12:201205228::T 528/27700) Row 20593967 (NC_000002.12:201205228:T: 24/27700) Row 20593968 (NC_000002.12:201205228::TT 1/27700)	-	Oct 13, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 20593966 (NC_000002.12:201205228::T 528/27700) Row 20593967 (NC_000002.12:201205228:T: 24/27700) Row 20593968 (NC_000002.12:201205228::TT 1/27700)	-	Oct 13, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 20593966 (NC_000002.12:201205228::T 528/27700) Row 20593967 (NC_000002.12:201205228:T: 24/27700) Row 20593968 (NC_000002.12:201205228::TT 1/27700)	-	Oct 13, 2022 (156)
61	ALFA	NC_000002.12 - 201205229	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
ss3705812909, ss4059189212	NC_000002.12:201205228:TTT:	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4059189211	NC_000002.12:201205228:TT:	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
9089993046	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3705812910	NC_000002.12:201205229:TT:	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss2991184984, ss3784123351, ss5156015584	NC_000002.11:202069951:T:	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4059189210, ss5251659508, ss5451309851, ss5686756863, ss5852910924	NC_000002.12:201205228:T:	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
9089993046	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3705812911	NC_000002.12:201205230:T:	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss1536325774, ss1798194325, ss3729279193, ss3837145261, ss5156015583	NC_000002.11:202069951::T	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss947072718	NC_000002.11:202069952::T	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3064829347, ss3842566437, ss4059189202, ss5251659509, ss5451309852, ss5686756862, ss5803134676	NC_000002.12:201205228::T	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
9089993046	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3705812912	NC_000002.12:201205231::T	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss41664257	NT_005403.17:52279383::T	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5156015585, ss5980105698	NC_000002.11:202069951::TT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4059189203, ss5251659510, ss5451309853, ss5686756864	NC_000002.12:201205228::TT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
9089993046	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3705812913	NC_000002.12:201205231::TT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4059189204	NC_000002.12:201205228::TTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4059189205	NC_000002.12:201205228::TTTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
9089993046	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3729279194	NC_000002.11:202069951::TTTTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4059189207	NC_000002.12:201205228::TTTTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3705812914	NC_000002.12:201205231::TTTTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4059189208	NC_000002.12:201205228::TTTTTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4059189209	NC_000002.12:201205228::TTTTTTTTTTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
9089993046	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:201205228:TTTTTTTTTTT… NC_000002.12:201205228:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs35121141

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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs35121141