Name: rs565154148
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.

rs565154148

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:103695314-103695328 (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: delATAT / delAT / dupAT / dupATAT …
delATAT / delAT / dupAT / dupATAT / dup(AT)₃
Variation Type: Indel Insertion and Deletion
Frequency: dupATAT=0.00461 (73/15842, ALFA)
delATAT=0.0200 (100/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KLC1 : 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	15842	TATATATATATATAT=0.99293	TATATATATAT=0.00000, TATATATATATAT=0.00000, TATATATATATATATAT=0.00246, TATATATATATATATATAT=0.00461	0.990865	0.000127	0.009008	3
European	Sub	11980	TATATATATATATAT=0.99065	TATATATATAT=0.00000, TATATATATATAT=0.00000, TATATATATATATATAT=0.00326, TATATATATATATATATAT=0.00609	0.987901	0.000168	0.011931	2
African	Sub	2480	TATATATATATATAT=1.0000	TATATATATAT=0.0000, TATATATATATAT=0.0000, TATATATATATATATAT=0.0000, TATATATATATATATATAT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	92	TATATATATATATAT=1.00	TATATATATAT=0.00, TATATATATATAT=0.00, TATATATATATATATAT=0.00, TATATATATATATATATAT=0.00	1.0	0.0	0.0	N/A
African American	Sub	2388	TATATATATATATAT=1.0000	TATATATATAT=0.0000, TATATATATATAT=0.0000, TATATATATATATATAT=0.0000, TATATATATATATATATAT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	106	TATATATATATATAT=1.000	TATATATATAT=0.000, TATATATATATAT=0.000, TATATATATATATATAT=0.000, TATATATATATATATATAT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	82	TATATATATATATAT=1.00	TATATATATAT=0.00, TATATATATATAT=0.00, TATATATATATATATAT=0.00, TATATATATATATATATAT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	TATATATATATATAT=1.00	TATATATATAT=0.00, TATATATATATAT=0.00, TATATATATATATATAT=0.00, TATATATATATATATATAT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	136	TATATATATATATAT=1.000	TATATATATAT=0.000, TATATATATATAT=0.000, TATATATATATATATAT=0.000, TATATATATATATATATAT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	600	TATATATATATATAT=1.000	TATATATATAT=0.000, TATATATATATAT=0.000, TATATATATATATATAT=0.000, TATATATATATATATATAT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	94	TATATATATATATAT=1.00	TATATATATAT=0.00, TATATATATATAT=0.00, TATATATATATATATAT=0.00, TATATATATATATATATAT=0.00	1.0	0.0	0.0	N/A
Other	Sub	446	TATATATATATATAT=1.000	TATATATATAT=0.000, TATATATATATAT=0.000, TATATATATATATATAT=0.000, TATATATATATATATATAT=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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	15842	(TA)₇T=0.99293	delATAT=0.00000, delAT=0.00000, dupAT=0.00246, dupATAT=0.00461
Allele Frequency Aggregator	European	Sub	11980	(TA)₇T=0.99065	delATAT=0.00000, delAT=0.00000, dupAT=0.00326, dupATAT=0.00609
Allele Frequency Aggregator	African	Sub	2480	(TA)₇T=1.0000	delATAT=0.0000, delAT=0.0000, dupAT=0.0000, dupATAT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	600	(TA)₇T=1.000	delATAT=0.000, delAT=0.000, dupAT=0.000, dupATAT=0.000
Allele Frequency Aggregator	Other	Sub	446	(TA)₇T=1.000	delATAT=0.000, delAT=0.000, dupAT=0.000, dupATAT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	136	(TA)₇T=1.000	delATAT=0.000, delAT=0.000, dupAT=0.000, dupATAT=0.000
Allele Frequency Aggregator	Asian	Sub	106	(TA)₇T=1.000	delATAT=0.000, delAT=0.000, dupAT=0.000, dupATAT=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(TA)₇T=1.00	delATAT=0.00, delAT=0.00, dupAT=0.00, dupATAT=0.00
1000Genomes	Global	Study-wide	5008	(TA)₇T=0.9800	delATAT=0.0200
1000Genomes	African	Sub	1322	(TA)₇T=0.9274	delATAT=0.0726
1000Genomes	East Asian	Sub	1008	(TA)₇T=1.0000	delATAT=0.0000
1000Genomes	Europe	Sub	1006	(TA)₇T=1.0000	delATAT=0.0000
1000Genomes	South Asian	Sub	978	(TA)₇T=1.000	delATAT=0.000
1000Genomes	American	Sub	694	(TA)₇T=0.994	delATAT=0.006

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 14	NC_000014.9:g.103695315AT[5]
GRCh38.p14 chr 14	NC_000014.9:g.103695315AT[6]
GRCh38.p14 chr 14	NC_000014.9:g.103695315AT[8]
GRCh38.p14 chr 14	NC_000014.9:g.103695315AT[9]
GRCh38.p14 chr 14	NC_000014.9:g.103695315AT[10]
GRCh37.p13 chr 14	NC_000014.8:g.104161652AT[5]
GRCh37.p13 chr 14	NC_000014.8:g.104161652AT[6]
GRCh37.p13 chr 14	NC_000014.8:g.104161652AT[8]
GRCh37.p13 chr 14	NC_000014.8:g.104161652AT[9]
GRCh37.p13 chr 14	NC_000014.8:g.104161652AT[10]
KLC1 RefSeqGene	NG_012307.1:g.71128AT[5]
KLC1 RefSeqGene	NG_012307.1:g.71128AT[6]
KLC1 RefSeqGene	NG_012307.1:g.71128AT[8]
KLC1 RefSeqGene	NG_012307.1:g.71128AT[9]
KLC1 RefSeqGene	NG_012307.1:g.71128AT[10]

Gene: KLC1, kinesin light chain 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KLC1 transcript variant 3	NM_001130107.2:c.1782-534… NM_001130107.2:c.1782-5341TA[5]	N/A	Intron Variant
KLC1 transcript variant 4	NM_001394832.1:c.1923+288… NM_001394832.1:c.1923+2889TA[5]	N/A	Intron Variant
KLC1 transcript variant 6	NM_001394834.1:c.1896+288… NM_001394834.1:c.1896+2889TA[5]	N/A	Intron Variant
KLC1 transcript variant 8	NM_001394836.1:c.1857-534… NM_001394836.1:c.1857-5341TA[5]	N/A	Intron Variant
KLC1 transcript variant 9	NM_001394837.1:c.1848+288… NM_001394837.1:c.1848+2889TA[5]	N/A	Intron Variant
KLC1 transcript variant 11	NM_001394839.1:c.1830-534… NM_001394839.1:c.1830-5341TA[5]	N/A	Intron Variant
KLC1 transcript variant 12	NM_001394840.1:c.1821+288… NM_001394840.1:c.1821+2889TA[5]	N/A	Intron Variant
KLC1 transcript variant 14	NM_001394842.1:c.1779-534… NM_001394842.1:c.1779-5341TA[5]	N/A	Intron Variant
KLC1 transcript variant 15	NM_001394843.1:c.1776-534… NM_001394843.1:c.1776-5341TA[5]	N/A	Intron Variant
KLC1 transcript variant 16	NM_001394844.1:c.1755-534… NM_001394844.1:c.1755-5341TA[5]	N/A	Intron Variant
KLC1 transcript variant 18	NM_001394846.1:c.1726-534… NM_001394846.1:c.1726-5341TA[5]	N/A	Intron Variant
KLC1 transcript variant 20	NM_001394848.1:c.1699-534… NM_001394848.1:c.1699-5341TA[5]	N/A	Intron Variant
KLC1 transcript variant 23	NM_001394851.1:c.1645-534… NM_001394851.1:c.1645-5341TA[5]	N/A	Intron Variant
KLC1 transcript variant 24	NM_001394852.1:c.1624-534… NM_001394852.1:c.1624-5341TA[5]	N/A	Intron Variant
KLC1 transcript variant 2	NM_182923.4:c.1651-5341TA… NM_182923.4:c.1651-5341TA[5]	N/A	Intron Variant
KLC1 transcript variant 17	NM_001394845.1:c.1725_1… NM_001394845.1:c.1725_1739=	N/A	3 Prime UTR Variant
KLC1 transcript variant 31	NM_001394859.1:c.1796_1… NM_001394859.1:c.1796_1810=	N/A	3 Prime UTR Variant
KLC1 transcript variant 5	NM_001394833.1:c.1696_1… NM_001394833.1:c.1696_1710=	N/A	3 Prime UTR Variant
KLC1 transcript variant 13	NM_001394841.1:c.1696_1… NM_001394841.1:c.1696_1710=	N/A	3 Prime UTR Variant
KLC1 transcript variant 7	NM_001394835.1:c.1696_1… NM_001394835.1:c.1696_1710=	N/A	3 Prime UTR Variant
KLC1 transcript variant 26	NM_001394854.1:c.1796_1… NM_001394854.1:c.1796_1810=	N/A	3 Prime UTR Variant
KLC1 transcript variant 19	NM_001394847.1:c.1725_1… NM_001394847.1:c.1725_1739=	N/A	3 Prime UTR Variant
KLC1 transcript variant 10	NM_001394838.1:c.1696_1… NM_001394838.1:c.1696_1710=	N/A	3 Prime UTR Variant
KLC1 transcript variant 25	NM_001394853.1:c.1696_1… NM_001394853.1:c.1696_1710=	N/A	3 Prime UTR Variant
KLC1 transcript variant 21	NM_001394849.1:c.	N/A	Genic Downstream Transcript Variant
KLC1 transcript variant 22	NM_001394850.1:c.	N/A	Genic Downstream Transcript Variant
KLC1 transcript variant 27	NM_001394855.1:c.	N/A	Genic Downstream Transcript Variant
KLC1 transcript variant 28	NM_001394856.1:c.	N/A	Genic Downstream Transcript Variant
KLC1 transcript variant 29	NM_001394857.1:c.	N/A	Genic Downstream Transcript Variant
KLC1 transcript variant 30	NM_001394858.1:c.	N/A	Genic Downstream Transcript Variant
KLC1 transcript variant 32	NM_001394860.1:c.	N/A	Genic Downstream Transcript Variant
KLC1 transcript variant 1	NM_005552.5:c.	N/A	Genic Downstream Transcript 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	(TA)₇T=	delATAT	delAT	dupAT	dupATAT	dup(AT)₃
GRCh38.p14 chr 14	NC_000014.9:g.103695314_103695328=	NC_000014.9:g.103695315AT[5]	NC_000014.9:g.103695315AT[6]	NC_000014.9:g.103695315AT[8]	NC_000014.9:g.103695315AT[9]	NC_000014.9:g.103695315AT[10]
GRCh37.p13 chr 14	NC_000014.8:g.104161651_104161665=	NC_000014.8:g.104161652AT[5]	NC_000014.8:g.104161652AT[6]	NC_000014.8:g.104161652AT[8]	NC_000014.8:g.104161652AT[9]	NC_000014.8:g.104161652AT[10]
KLC1 RefSeqGene	NG_012307.1:g.71127_71141=	NG_012307.1:g.71128AT[5]	NG_012307.1:g.71128AT[6]	NG_012307.1:g.71128AT[8]	NG_012307.1:g.71128AT[9]	NG_012307.1:g.71128AT[10]
KLC1 transcript variant 5	NM_001394833.1:c.1696_1710=	NM_001394833.1:c.*1697AT[5]	NM_001394833.1:c.*1697AT[6]	NM_001394833.1:c.*1697AT[8]	NM_001394833.1:c.*1697AT[9]	NM_001394833.1:c.*1697AT[10]
KLC1 transcript variant 7	NM_001394835.1:c.1696_1710=	NM_001394835.1:c.*1697AT[5]	NM_001394835.1:c.*1697AT[6]	NM_001394835.1:c.*1697AT[8]	NM_001394835.1:c.*1697AT[9]	NM_001394835.1:c.*1697AT[10]
KLC1 transcript variant 10	NM_001394838.1:c.1696_1710=	NM_001394838.1:c.*1697AT[5]	NM_001394838.1:c.*1697AT[6]	NM_001394838.1:c.*1697AT[8]	NM_001394838.1:c.*1697AT[9]	NM_001394838.1:c.*1697AT[10]
KLC1 transcript variant 13	NM_001394841.1:c.1696_1710=	NM_001394841.1:c.*1697AT[5]	NM_001394841.1:c.*1697AT[6]	NM_001394841.1:c.*1697AT[8]	NM_001394841.1:c.*1697AT[9]	NM_001394841.1:c.*1697AT[10]
KLC1 transcript variant 17	NM_001394845.1:c.1725_1739=	NM_001394845.1:c.*1726AT[5]	NM_001394845.1:c.*1726AT[6]	NM_001394845.1:c.*1726AT[8]	NM_001394845.1:c.*1726AT[9]	NM_001394845.1:c.*1726AT[10]
KLC1 transcript variant 19	NM_001394847.1:c.1725_1739=	NM_001394847.1:c.*1726AT[5]	NM_001394847.1:c.*1726AT[6]	NM_001394847.1:c.*1726AT[8]	NM_001394847.1:c.*1726AT[9]	NM_001394847.1:c.*1726AT[10]
KLC1 transcript variant 26	NM_001394854.1:c.1796_1810=	NM_001394854.1:c.*1797AT[5]	NM_001394854.1:c.*1797AT[6]	NM_001394854.1:c.*1797AT[8]	NM_001394854.1:c.*1797AT[9]	NM_001394854.1:c.*1797AT[10]
KLC1 transcript variant 31	NM_001394859.1:c.1796_1810=	NM_001394859.1:c.*1797AT[5]	NM_001394859.1:c.*1797AT[6]	NM_001394859.1:c.*1797AT[8]	NM_001394859.1:c.*1797AT[9]	NM_001394859.1:c.*1797AT[10]
KLC1 transcript variant 25	NM_001394853.1:c.1696_1710=	NM_001394853.1:c.*1697AT[5]	NM_001394853.1:c.*1697AT[6]	NM_001394853.1:c.*1697AT[8]	NM_001394853.1:c.*1697AT[9]	NM_001394853.1:c.*1697AT[10]
KLC1 transcript variant 3	NM_001130107.1:c.1782-5341=	NM_001130107.1:c.1782-5341TA[5]	NM_001130107.1:c.1782-5341TA[6]	NM_001130107.1:c.1782-5341TA[8]	NM_001130107.1:c.1782-5341TA[9]	NM_001130107.1:c.1782-5341TA[10]
KLC1 transcript variant 3	NM_001130107.2:c.1782-5341=	NM_001130107.2:c.1782-5341TA[5]	NM_001130107.2:c.1782-5341TA[6]	NM_001130107.2:c.1782-5341TA[8]	NM_001130107.2:c.1782-5341TA[9]	NM_001130107.2:c.1782-5341TA[10]
KLC1 transcript variant 4	NM_001394832.1:c.1923+2889=	NM_001394832.1:c.1923+2889TA[5]	NM_001394832.1:c.1923+2889TA[6]	NM_001394832.1:c.1923+2889TA[8]	NM_001394832.1:c.1923+2889TA[9]	NM_001394832.1:c.1923+2889TA[10]
KLC1 transcript variant 6	NM_001394834.1:c.1896+2889=	NM_001394834.1:c.1896+2889TA[5]	NM_001394834.1:c.1896+2889TA[6]	NM_001394834.1:c.1896+2889TA[8]	NM_001394834.1:c.1896+2889TA[9]	NM_001394834.1:c.1896+2889TA[10]
KLC1 transcript variant 8	NM_001394836.1:c.1857-5341=	NM_001394836.1:c.1857-5341TA[5]	NM_001394836.1:c.1857-5341TA[6]	NM_001394836.1:c.1857-5341TA[8]	NM_001394836.1:c.1857-5341TA[9]	NM_001394836.1:c.1857-5341TA[10]
KLC1 transcript variant 9	NM_001394837.1:c.1848+2889=	NM_001394837.1:c.1848+2889TA[5]	NM_001394837.1:c.1848+2889TA[6]	NM_001394837.1:c.1848+2889TA[8]	NM_001394837.1:c.1848+2889TA[9]	NM_001394837.1:c.1848+2889TA[10]
KLC1 transcript variant 11	NM_001394839.1:c.1830-5341=	NM_001394839.1:c.1830-5341TA[5]	NM_001394839.1:c.1830-5341TA[6]	NM_001394839.1:c.1830-5341TA[8]	NM_001394839.1:c.1830-5341TA[9]	NM_001394839.1:c.1830-5341TA[10]
KLC1 transcript variant 12	NM_001394840.1:c.1821+2889=	NM_001394840.1:c.1821+2889TA[5]	NM_001394840.1:c.1821+2889TA[6]	NM_001394840.1:c.1821+2889TA[8]	NM_001394840.1:c.1821+2889TA[9]	NM_001394840.1:c.1821+2889TA[10]
KLC1 transcript variant 14	NM_001394842.1:c.1779-5341=	NM_001394842.1:c.1779-5341TA[5]	NM_001394842.1:c.1779-5341TA[6]	NM_001394842.1:c.1779-5341TA[8]	NM_001394842.1:c.1779-5341TA[9]	NM_001394842.1:c.1779-5341TA[10]
KLC1 transcript variant 15	NM_001394843.1:c.1776-5341=	NM_001394843.1:c.1776-5341TA[5]	NM_001394843.1:c.1776-5341TA[6]	NM_001394843.1:c.1776-5341TA[8]	NM_001394843.1:c.1776-5341TA[9]	NM_001394843.1:c.1776-5341TA[10]
KLC1 transcript variant 16	NM_001394844.1:c.1755-5341=	NM_001394844.1:c.1755-5341TA[5]	NM_001394844.1:c.1755-5341TA[6]	NM_001394844.1:c.1755-5341TA[8]	NM_001394844.1:c.1755-5341TA[9]	NM_001394844.1:c.1755-5341TA[10]
KLC1 transcript variant 18	NM_001394846.1:c.1726-5341=	NM_001394846.1:c.1726-5341TA[5]	NM_001394846.1:c.1726-5341TA[6]	NM_001394846.1:c.1726-5341TA[8]	NM_001394846.1:c.1726-5341TA[9]	NM_001394846.1:c.1726-5341TA[10]
KLC1 transcript variant 20	NM_001394848.1:c.1699-5341=	NM_001394848.1:c.1699-5341TA[5]	NM_001394848.1:c.1699-5341TA[6]	NM_001394848.1:c.1699-5341TA[8]	NM_001394848.1:c.1699-5341TA[9]	NM_001394848.1:c.1699-5341TA[10]
KLC1 transcript variant 23	NM_001394851.1:c.1645-5341=	NM_001394851.1:c.1645-5341TA[5]	NM_001394851.1:c.1645-5341TA[6]	NM_001394851.1:c.1645-5341TA[8]	NM_001394851.1:c.1645-5341TA[9]	NM_001394851.1:c.1645-5341TA[10]
KLC1 transcript variant 24	NM_001394852.1:c.1624-5341=	NM_001394852.1:c.1624-5341TA[5]	NM_001394852.1:c.1624-5341TA[6]	NM_001394852.1:c.1624-5341TA[8]	NM_001394852.1:c.1624-5341TA[9]	NM_001394852.1:c.1624-5341TA[10]
KLC1 transcript variant 2	NM_182923.3:c.1651-5341=	NM_182923.3:c.1651-5341TA[5]	NM_182923.3:c.1651-5341TA[6]	NM_182923.3:c.1651-5341TA[8]	NM_182923.3:c.1651-5341TA[9]	NM_182923.3:c.1651-5341TA[10]
KLC1 transcript variant 2	NM_182923.4:c.1651-5341=	NM_182923.4:c.1651-5341TA[5]	NM_182923.4:c.1651-5341TA[6]	NM_182923.4:c.1651-5341TA[8]	NM_182923.4:c.1651-5341TA[9]	NM_182923.4:c.1651-5341TA[10]
KLC1 transcript variant X1	XM_005267599.1:c.1923+2889=	XM_005267599.1:c.1923+2889TA[5]	XM_005267599.1:c.1923+2889TA[6]	XM_005267599.1:c.1923+2889TA[8]	XM_005267599.1:c.1923+2889TA[9]	XM_005267599.1:c.1923+2889TA[10]
KLC1 transcript variant X2	XM_005267600.1:c.*16+1680=	XM_005267600.1:c.*16+1680TA[5]	XM_005267600.1:c.*16+1680TA[6]	XM_005267600.1:c.*16+1680TA[8]	XM_005267600.1:c.*16+1680TA[9]	XM_005267600.1:c.*16+1680TA[10]
KLC1 transcript variant X4	XM_005267602.1:c.1896+2889=	XM_005267602.1:c.1896+2889TA[5]	XM_005267602.1:c.1896+2889TA[6]	XM_005267602.1:c.1896+2889TA[8]	XM_005267602.1:c.1896+2889TA[9]	XM_005267602.1:c.1896+2889TA[10]
KLC1 transcript variant X5	XM_005267603.1:c.*16+1680=	XM_005267603.1:c.*16+1680TA[5]	XM_005267603.1:c.*16+1680TA[6]	XM_005267603.1:c.*16+1680TA[8]	XM_005267603.1:c.*16+1680TA[9]	XM_005267603.1:c.*16+1680TA[10]
KLC1 transcript variant X6	XM_005267604.1:c.1857-5341=	XM_005267604.1:c.1857-5341TA[5]	XM_005267604.1:c.1857-5341TA[6]	XM_005267604.1:c.1857-5341TA[8]	XM_005267604.1:c.1857-5341TA[9]	XM_005267604.1:c.1857-5341TA[10]
KLC1 transcript variant X7	XM_005267605.1:c.1848+2889=	XM_005267605.1:c.1848+2889TA[5]	XM_005267605.1:c.1848+2889TA[6]	XM_005267605.1:c.1848+2889TA[8]	XM_005267605.1:c.1848+2889TA[9]	XM_005267605.1:c.1848+2889TA[10]
KLC1 transcript variant X8	XM_005267606.1:c.*16+1680=	XM_005267606.1:c.*16+1680TA[5]	XM_005267606.1:c.*16+1680TA[6]	XM_005267606.1:c.*16+1680TA[8]	XM_005267606.1:c.*16+1680TA[9]	XM_005267606.1:c.*16+1680TA[10]
KLC1 transcript variant X9	XM_005267607.1:c.1830-5341=	XM_005267607.1:c.1830-5341TA[5]	XM_005267607.1:c.1830-5341TA[6]	XM_005267607.1:c.1830-5341TA[8]	XM_005267607.1:c.1830-5341TA[9]	XM_005267607.1:c.1830-5341TA[10]
KLC1 transcript variant X10	XM_005267608.1:c.1824+2889=	XM_005267608.1:c.1824+2889TA[5]	XM_005267608.1:c.1824+2889TA[6]	XM_005267608.1:c.1824+2889TA[8]	XM_005267608.1:c.1824+2889TA[9]	XM_005267608.1:c.1824+2889TA[10]
KLC1 transcript variant X11	XM_005267609.1:c.1821+2889=	XM_005267609.1:c.1821+2889TA[5]	XM_005267609.1:c.1821+2889TA[6]	XM_005267609.1:c.1821+2889TA[8]	XM_005267609.1:c.1821+2889TA[9]	XM_005267609.1:c.1821+2889TA[10]
KLC1 transcript variant X12	XM_005267610.1:c.*45+1680=	XM_005267610.1:c.*45+1680TA[5]	XM_005267610.1:c.*45+1680TA[6]	XM_005267610.1:c.*45+1680TA[8]	XM_005267610.1:c.*45+1680TA[9]	XM_005267610.1:c.*45+1680TA[10]
KLC1 transcript variant X14	XM_005267612.1:c.*16+1680=	XM_005267612.1:c.*16+1680TA[5]	XM_005267612.1:c.*16+1680TA[6]	XM_005267612.1:c.*16+1680TA[8]	XM_005267612.1:c.*16+1680TA[9]	XM_005267612.1:c.*16+1680TA[10]
KLC1 transcript variant X15	XM_005267613.1:c.1758-5341=	XM_005267613.1:c.1758-5341TA[5]	XM_005267613.1:c.1758-5341TA[6]	XM_005267613.1:c.1758-5341TA[8]	XM_005267613.1:c.1758-5341TA[9]	XM_005267613.1:c.1758-5341TA[10]
KLC1 transcript variant X16	XM_005267614.1:c.1755-5341=	XM_005267614.1:c.1755-5341TA[5]	XM_005267614.1:c.1755-5341TA[6]	XM_005267614.1:c.1755-5341TA[8]	XM_005267614.1:c.1755-5341TA[9]	XM_005267614.1:c.1755-5341TA[10]
KLC1 transcript variant X17	XM_005267615.1:c.1726-5341=	XM_005267615.1:c.1726-5341TA[5]	XM_005267615.1:c.1726-5341TA[6]	XM_005267615.1:c.1726-5341TA[8]	XM_005267615.1:c.1726-5341TA[9]	XM_005267615.1:c.1726-5341TA[10]
KLC1 transcript variant X18	XM_005267616.1:c.*16+1680=	XM_005267616.1:c.*16+1680TA[5]	XM_005267616.1:c.*16+1680TA[6]	XM_005267616.1:c.*16+1680TA[8]	XM_005267616.1:c.*16+1680TA[9]	XM_005267616.1:c.*16+1680TA[10]
KLC1 transcript variant X19	XM_005267617.1:c.1699-5341=	XM_005267617.1:c.1699-5341TA[5]	XM_005267617.1:c.1699-5341TA[6]	XM_005267617.1:c.1699-5341TA[8]	XM_005267617.1:c.1699-5341TA[9]	XM_005267617.1:c.1699-5341TA[10]
KLC1 transcript variant X20	XM_005267618.1:c.*16+1680=	XM_005267618.1:c.*16+1680TA[5]	XM_005267618.1:c.*16+1680TA[6]	XM_005267618.1:c.*16+1680TA[8]	XM_005267618.1:c.*16+1680TA[9]	XM_005267618.1:c.*16+1680TA[10]
KLC1 transcript variant X26	XM_005267624.1:c.1624-5341=	XM_005267624.1:c.1624-5341TA[5]	XM_005267624.1:c.1624-5341TA[6]	XM_005267624.1:c.1624-5341TA[8]	XM_005267624.1:c.1624-5341TA[9]	XM_005267624.1:c.1624-5341TA[10]

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#.

38 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss289242630	Aug 21, 2014 (142)
2	1000GENOMES	ss1374587058	Aug 21, 2014 (142)
3	EVA_UK10K_ALSPAC	ss1708203810	Jan 10, 2018 (151)
4	EVA_UK10K_TWINSUK	ss1708203953	Jan 10, 2018 (151)
5	EVA_UK10K_ALSPAC	ss1710655578	Oct 12, 2018 (152)
6	EVA_UK10K_TWINSUK	ss1710655585	Oct 12, 2018 (152)
7	SWEGEN	ss3012808165	Nov 08, 2017 (151)
8	SWEGEN	ss3012808166	Nov 08, 2017 (151)
9	SWEGEN	ss3012808167	Nov 08, 2017 (151)
10	EVA_DECODE	ss3697423529	Jul 13, 2019 (153)
11	EVA_DECODE	ss3697423530	Jul 13, 2019 (153)
12	EVA_DECODE	ss3697423531	Jul 13, 2019 (153)
13	EVA_DECODE	ss3697423532	Jul 13, 2019 (153)
14	ACPOP	ss3740714951	Jul 13, 2019 (153)
15	ACPOP	ss3740714952	Jul 13, 2019 (153)
16	KHV_HUMAN_GENOMES	ss3818111716	Jul 13, 2019 (153)
17	GNOMAD	ss4284425354	Apr 27, 2021 (155)
18	GNOMAD	ss4284425355	Apr 27, 2021 (155)
19	GNOMAD	ss4284425356	Apr 27, 2021 (155)
20	GNOMAD	ss4284425358	Apr 27, 2021 (155)
21	GNOMAD	ss4284425359	Apr 27, 2021 (155)
22	TOMMO_GENOMICS	ss5214922835	Apr 27, 2021 (155)
23	TOMMO_GENOMICS	ss5214922836	Apr 27, 2021 (155)
24	TOMMO_GENOMICS	ss5214922837	Apr 27, 2021 (155)
25	1000G_HIGH_COVERAGE	ss5297533811	Oct 17, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5297533812	Oct 17, 2022 (156)
27	1000G_HIGH_COVERAGE	ss5297533813	Oct 17, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5297533815	Oct 17, 2022 (156)
29	HUGCELL_USP	ss5491455360	Oct 17, 2022 (156)
30	HUGCELL_USP	ss5491455361	Oct 17, 2022 (156)
31	HUGCELL_USP	ss5491455362	Oct 17, 2022 (156)
32	HUGCELL_USP	ss5491455363	Oct 17, 2022 (156)
33	EVA	ss5511368088	Oct 17, 2022 (156)
34	TOMMO_GENOMICS	ss5768215872	Oct 17, 2022 (156)
35	TOMMO_GENOMICS	ss5768215873	Oct 17, 2022 (156)
36	TOMMO_GENOMICS	ss5768215874	Oct 17, 2022 (156)
37	EVA	ss5841628767	Oct 17, 2022 (156)
38	EVA	ss5841628768	Oct 17, 2022 (156)
39	1000Genomes	NC_000014.8 - 104161651	Oct 12, 2018 (152)
40	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 36430860 (NC_000014.8:104161650::TA 859/3854) Row 36430861 (NC_000014.8:104161650:TA: 62/3854)	-	Oct 12, 2018 (152)
41	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 36430860 (NC_000014.8:104161650::TA 859/3854) Row 36430861 (NC_000014.8:104161650:TA: 62/3854)	-	Oct 12, 2018 (152)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461888680 (NC_000014.9:103695313::TA 956/127922) Row 461888681 (NC_000014.9:103695313::TATA 750/128038) Row 461888682 (NC_000014.9:103695313::TATATA 3/128124)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461888680 (NC_000014.9:103695313::TA 956/127922) Row 461888681 (NC_000014.9:103695313::TATA 750/128038) Row 461888682 (NC_000014.9:103695313::TATATA 3/128124)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461888680 (NC_000014.9:103695313::TA 956/127922) Row 461888681 (NC_000014.9:103695313::TATA 750/128038) Row 461888682 (NC_000014.9:103695313::TATATA 3/128124)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461888680 (NC_000014.9:103695313::TA 956/127922) Row 461888681 (NC_000014.9:103695313::TATA 750/128038) Row 461888682 (NC_000014.9:103695313::TATATA 3/128124)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461888680 (NC_000014.9:103695313::TA 956/127922) Row 461888681 (NC_000014.9:103695313::TATA 750/128038) Row 461888682 (NC_000014.9:103695313::TATATA 3/128124)...	-	Apr 27, 2021 (155)
47	Northern Sweden Submission ignored due to conflicting rows: Row 13999816 (NC_000014.8:104161650::TA 6/600) Row 13999817 (NC_000014.8:104161650::TATA 8/600)	-	Jul 13, 2019 (153)
48	Northern Sweden Submission ignored due to conflicting rows: Row 13999816 (NC_000014.8:104161650::TA 6/600) Row 13999817 (NC_000014.8:104161650::TATA 8/600)	-	Jul 13, 2019 (153)
49	8.3KJPN Submission ignored due to conflicting rows: Row 72892142 (NC_000014.8:104161650::TA 96/16752) Row 72892143 (NC_000014.8:104161650:TA: 11/16752) Row 72892144 (NC_000014.8:104161650::TATA 17/16752)	-	Apr 27, 2021 (155)
50	8.3KJPN Submission ignored due to conflicting rows: Row 72892142 (NC_000014.8:104161650::TA 96/16752) Row 72892143 (NC_000014.8:104161650:TA: 11/16752) Row 72892144 (NC_000014.8:104161650::TATA 17/16752)	-	Apr 27, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 72892142 (NC_000014.8:104161650::TA 96/16752) Row 72892143 (NC_000014.8:104161650:TA: 11/16752) Row 72892144 (NC_000014.8:104161650::TATA 17/16752)	-	Apr 27, 2021 (155)
52	14KJPN Submission ignored due to conflicting rows: Row 102052976 (NC_000014.9:103695313::TA 142/28258) Row 102052977 (NC_000014.9:103695313:TA: 11/28258) Row 102052978 (NC_000014.9:103695313::TATA 18/28258)	-	Oct 17, 2022 (156)
53	14KJPN Submission ignored due to conflicting rows: Row 102052976 (NC_000014.9:103695313::TA 142/28258) Row 102052977 (NC_000014.9:103695313:TA: 11/28258) Row 102052978 (NC_000014.9:103695313::TATA 18/28258)	-	Oct 17, 2022 (156)
54	14KJPN Submission ignored due to conflicting rows: Row 102052976 (NC_000014.9:103695313::TA 142/28258) Row 102052977 (NC_000014.9:103695313:TA: 11/28258) Row 102052978 (NC_000014.9:103695313::TATA 18/28258)	-	Oct 17, 2022 (156)
55	UK 10K study - Twins Submission ignored due to conflicting rows: Row 36430860 (NC_000014.8:104161650::TA 884/3708) Row 36430861 (NC_000014.8:104161650:TA: 50/3708)	-	Oct 12, 2018 (152)
56	UK 10K study - Twins Submission ignored due to conflicting rows: Row 36430860 (NC_000014.8:104161650::TA 884/3708) Row 36430861 (NC_000014.8:104161650:TA: 50/3708)	-	Oct 12, 2018 (152)
57	ALFA	NC_000014.9 - 103695314	Apr 27, 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
65535502, ss1374587058	NC_000014.8:104161650:TATA:	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATAT	(self)
ss3818111716, ss4284425359, ss5297533812, ss5491455362	NC_000014.9:103695313:TATA:	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATAT	(self)
507202169	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATAT	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATAT	(self)
ss1708203810, ss1708203953, ss5214922836, ss5841628768	NC_000014.8:104161650:TA:	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATAT	(self)
ss3697423529, ss4284425358, ss5297533813, ss5491455361, ss5768215873	NC_000014.9:103695313:TA:	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATAT	(self)
507202169	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATAT	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATAT	(self)
ss289242630	NC_000014.7:103231418::AT	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATAT	(self)
ss3012808165, ss3740714951, ss5214922835, ss5841628767	NC_000014.8:104161650::TA	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATAT	(self)
ss1710655578, ss1710655585	NC_000014.8:104161652::TA	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATAT	(self)
ss4284425354, ss5297533811, ss5491455360, ss5768215872	NC_000014.9:103695313::TA	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATAT	(self)
507202169	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATAT	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATAT	(self)
ss3697423530	NC_000014.9:103695315::TA	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATAT	(self)
ss3012808167, ss3740714952, ss5214922837, ss5511368088	NC_000014.8:104161650::TATA	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATATAT	(self)
ss4284425355, ss5297533815, ss5491455363, ss5768215874	NC_000014.9:103695313::TATA	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATATAT	(self)
507202169	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATATAT	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATATAT	(self)
ss3697423531	NC_000014.9:103695315::TATA	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATATAT	(self)
ss3697423532	NC_000014.9:103695327::TATA	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATATAT	(self)
ss3012808166	NC_000014.8:104161650::TATATA	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATATATAT	(self)
ss4284425356	NC_000014.9:103695313::TATATA	NC_000014.9:103695313:TATATATATATA… NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATATATAT	(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 rs565154148

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

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs565154148