Name: rs8069074
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.

rs8069074

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:39529148 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.233269 (61744/264690, TOPMED)
A=0.217952 (30505/139962, GnomAD)
A=0.16530 (4671/28258, 14KJPN) (+ 17 more)
A=0.21016 (3949/18790, ALFA)
A=0.16927 (2837/16760, 8.3KJPN)
A=0.2224 (1424/6404, 1000G_30x)
A=0.2175 (1089/5008, 1000G)
A=0.1022 (458/4480, Estonian)
A=0.1562 (602/3854, ALSPAC)
A=0.1594 (591/3708, TWINSUK)
A=0.2256 (661/2930, KOREAN)
A=0.2590 (490/1892, HapMap)
A=0.2522 (462/1832, Korea1K)
A=0.170 (170/998, GoNL)
A=0.143 (86/600, NorthernSweden)
A=0.161 (87/540, SGDP_PRJ)
A=0.199 (43/216, Qatari)
A=0.224 (48/214, Vietnamese)
A=0.02 (1/56, Siberian)
A=0.17 (7/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CDK12 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	18790	A=0.21016	G=0.78984, T=0.00000
European	Sub	12336	A=0.16375	G=0.83625, T=0.00000
African	Sub	2706	A=0.3744	G=0.6256, T=0.0000
African Others	Sub	84	A=0.44	G=0.56, T=0.00
African American	Sub	2622	A=0.3722	G=0.6278, T=0.0000
Asian	Sub	72	A=0.28	G=0.72, T=0.00
East Asian	Sub	36	A=0.47	G=0.53, T=0.00
Other Asian	Sub	36	A=0.08	G=0.92, T=0.00
Latin American 1	Sub	178	A=0.258	G=0.742, T=0.000
Latin American 2	Sub	2254	A=0.2489	G=0.7511, T=0.0000
South Asian	Sub	16	A=0.00	G=1.00, T=0.00
Other	Sub	1228	A=0.2353	G=0.7647, T=0.0000

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
TopMed	Global	Study-wide	264690	A=0.233269	G=0.766731
gnomAD - Genomes	Global	Study-wide	139962	A=0.217952	G=0.782048
gnomAD - Genomes	European	Sub	75870	A=0.15114	G=0.84886
gnomAD - Genomes	African	Sub	41888	A=0.32384	G=0.67616
gnomAD - Genomes	American	Sub	13604	A=0.25074	G=0.74926
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.2366	G=0.7634
gnomAD - Genomes	East Asian	Sub	3126	A=0.2556	G=0.7444
gnomAD - Genomes	Other	Sub	2152	A=0.2217	G=0.7783
14KJPN	JAPANESE	Study-wide	28258	A=0.16530	G=0.83470
Allele Frequency Aggregator	Total	Global	18790	A=0.21016	G=0.78984, T=0.00000
Allele Frequency Aggregator	European	Sub	12336	A=0.16375	G=0.83625, T=0.00000
Allele Frequency Aggregator	African	Sub	2706	A=0.3744	G=0.6256, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	2254	A=0.2489	G=0.7511, T=0.0000
Allele Frequency Aggregator	Other	Sub	1228	A=0.2353	G=0.7647, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	178	A=0.258	G=0.742, T=0.000
Allele Frequency Aggregator	Asian	Sub	72	A=0.28	G=0.72, T=0.00
Allele Frequency Aggregator	South Asian	Sub	16	A=0.00	G=1.00, T=0.00
8.3KJPN	JAPANESE	Study-wide	16760	A=0.16927	G=0.83073
1000Genomes_30x	Global	Study-wide	6404	A=0.2224	G=0.7776
1000Genomes_30x	African	Sub	1786	A=0.3427	G=0.6573
1000Genomes_30x	Europe	Sub	1266	A=0.1643	G=0.8357
1000Genomes_30x	South Asian	Sub	1202	A=0.0840	G=0.9160
1000Genomes_30x	East Asian	Sub	1170	A=0.2427	G=0.7573
1000Genomes_30x	American	Sub	980	A=0.223	G=0.777
1000Genomes	Global	Study-wide	5008	A=0.2175	G=0.7825
1000Genomes	African	Sub	1322	A=0.3411	G=0.6589
1000Genomes	East Asian	Sub	1008	A=0.2371	G=0.7629
1000Genomes	Europe	Sub	1006	A=0.1630	G=0.8370
1000Genomes	South Asian	Sub	978	A=0.081	G=0.919
1000Genomes	American	Sub	694	A=0.225	G=0.775
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.1022	G=0.8978
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.1562	G=0.8438
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.1594	G=0.8406
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.2256	G=0.7744
HapMap	Global	Study-wide	1892	A=0.2590	G=0.7410
HapMap	American	Sub	770	A=0.196	G=0.804
HapMap	African	Sub	692	A=0.377	G=0.623
HapMap	Asian	Sub	254	A=0.169	G=0.831
HapMap	Europe	Sub	176	A=0.199	G=0.801
Korean Genome Project	KOREAN	Study-wide	1832	A=0.2522	G=0.7478
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.170	G=0.830
Northern Sweden	ACPOP	Study-wide	600	A=0.143	G=0.857
SGDP_PRJ	Global	Study-wide	540	A=0.161	G=0.839
Qatari	Global	Study-wide	216	A=0.199	G=0.801
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.224	G=0.776
Siberian	Global	Study-wide	56	A=0.02	G=0.98
The Danish reference pan genome	Danish	Study-wide	40	A=0.17	G=0.82

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 17	NC_000017.11:g.39529148A>G
GRCh38.p14 chr 17	NC_000017.11:g.39529148A>T
GRCh37.p13 chr 17	NC_000017.10:g.37685401A>G
GRCh37.p13 chr 17	NC_000017.10:g.37685401A>T
CDK12 RefSeqGene (LRG_1413)	NG_065324.1:g.72663A>G
CDK12 RefSeqGene (LRG_1413)	NG_065324.1:g.72663A>T

Gene: CDK12, cyclin dependent kinase 12 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CDK12 transcript variant 2	NM_015083.4:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant 1	NM_016507.4:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X1	XM_005257456.5:c.3758-145… XM_005257456.5:c.3758-1456A>G	N/A	Intron Variant
CDK12 transcript variant X3	XM_011524893.3:c.3761-145… XM_011524893.3:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X4	XM_011524894.3:c.3761-145… XM_011524894.3:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X10	XM_011524895.3:c.3761-145… XM_011524895.3:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X6	XM_011524897.3:c.3761-145… XM_011524897.3:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X13	XM_011524898.3:c.3761-145… XM_011524898.3:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X9	XM_011524906.3:c.3761-145… XM_011524906.3:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X41	XM_011524907.3:c.3760+283… XM_011524907.3:c.3760+2832A>G	N/A	Intron Variant
CDK12 transcript variant X45	XM_017024753.3:c.3757+283… XM_017024753.3:c.3757+2832A>G	N/A	Intron Variant
CDK12 transcript variant X2	XM_047436253.1:c.3758-148… XM_047436253.1:c.3758-1483A>G	N/A	Intron Variant
CDK12 transcript variant X5	XM_047436255.1:c.3761-145… XM_047436255.1:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X7	XM_047436256.1:c.3761-145… XM_047436256.1:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X8	XM_047436257.1:c.3761-145… XM_047436257.1:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X11	XM_047436258.1:c.3761-145… XM_047436258.1:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X12	XM_047436259.1:c.3761-145… XM_047436259.1:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X14	XM_047436260.1:c.3761-145… XM_047436260.1:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X15	XM_047436261.1:c.3761-145… XM_047436261.1:c.3761-1456A>G	N/A	Intron Variant
CDK12 transcript variant X16	XM_047436262.1:c.3758-145… XM_047436262.1:c.3758-1456A>G	N/A	Intron Variant
CDK12 transcript variant X17	XM_047436263.1:c.3758-145… XM_047436263.1:c.3758-1456A>G	N/A	Intron Variant
CDK12 transcript variant X18	XM_047436264.1:c.3758-145… XM_047436264.1:c.3758-1456A>G	N/A	Intron Variant
CDK12 transcript variant X19	XM_047436265.1:c.3761-148… XM_047436265.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X20	XM_047436266.1:c.3761-148… XM_047436266.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X21	XM_047436267.1:c.3761-148… XM_047436267.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X22	XM_047436268.1:c.3761-148… XM_047436268.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X23	XM_047436269.1:c.3761-148… XM_047436269.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X24	XM_047436270.1:c.3761-148… XM_047436270.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X25	XM_047436272.1:c.3761-148… XM_047436272.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X26	XM_047436273.1:c.3761-148… XM_047436273.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X27	XM_047436274.1:c.3761-148… XM_047436274.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X28	XM_047436275.1:c.3761-148… XM_047436275.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X29	XM_047436276.1:c.3761-148… XM_047436276.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X30	XM_047436277.1:c.3761-148… XM_047436277.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X31	XM_047436278.1:c.3761-148… XM_047436278.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X32	XM_047436279.1:c.3761-148… XM_047436279.1:c.3761-1483A>G	N/A	Intron Variant
CDK12 transcript variant X33	XM_047436280.1:c.3758-148… XM_047436280.1:c.3758-1483A>G	N/A	Intron Variant
CDK12 transcript variant X34	XM_047436281.1:c.3758-148… XM_047436281.1:c.3758-1483A>G	N/A	Intron Variant
CDK12 transcript variant X35	XM_047436282.1:c.3758-148… XM_047436282.1:c.3758-1483A>G	N/A	Intron Variant
CDK12 transcript variant X36	XM_047436283.1:c.3758-148… XM_047436283.1:c.3758-1483A>G	N/A	Intron Variant
CDK12 transcript variant X37	XM_047436284.1:c.3758-148… XM_047436284.1:c.3758-1483A>G	N/A	Intron Variant
CDK12 transcript variant X38	XM_047436285.1:c.3758-148… XM_047436285.1:c.3758-1483A>G	N/A	Intron Variant
CDK12 transcript variant X39	XM_047436286.1:c.3758-148… XM_047436286.1:c.3758-1483A>G	N/A	Intron Variant
CDK12 transcript variant X40	XM_047436287.1:c.3760+283… XM_047436287.1:c.3760+2832A>G	N/A	Intron Variant
CDK12 transcript variant X42	XM_047436288.1:c.3760+283… XM_047436288.1:c.3760+2832A>G	N/A	Intron Variant
CDK12 transcript variant X43	XM_047436289.1:c.3760+283… XM_047436289.1:c.3760+2832A>G	N/A	Intron Variant
CDK12 transcript variant X44	XM_047436290.1:c.3757+283… XM_047436290.1:c.3757+2832A>G	N/A	Intron Variant
CDK12 transcript variant X46	XM_047436291.1:c.3757+283… XM_047436291.1:c.3757+2832A>G	N/A	Intron Variant
CDK12 transcript variant X47	XM_047436292.1:c.3757+283… XM_047436292.1:c.3757+2832A>G	N/A	Intron Variant
CDK12 transcript variant X48	XM_047436293.1:c.3682+283… XM_047436293.1:c.3682+2832A>G	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	A=	G	T
GRCh38.p14 chr 17	NC_000017.11:g.39529148=	NC_000017.11:g.39529148A>G	NC_000017.11:g.39529148A>T
GRCh37.p13 chr 17	NC_000017.10:g.37685401=	NC_000017.10:g.37685401A>G	NC_000017.10:g.37685401A>T
CDK12 RefSeqGene (LRG_1413)	NG_065324.1:g.72663=	NG_065324.1:g.72663A>G	NG_065324.1:g.72663A>T
CDK12 transcript variant 2	NM_015083.1:c.3761-1483=	NM_015083.1:c.3761-1483A>G	NM_015083.1:c.3761-1483A>T
CDK12 transcript variant 2	NM_015083.4:c.3761-1483=	NM_015083.4:c.3761-1483A>G	NM_015083.4:c.3761-1483A>T
CDK12 transcript variant 1	NM_016507.2:c.3761-1456=	NM_016507.2:c.3761-1456A>G	NM_016507.2:c.3761-1456A>T
CDK12 transcript variant 1	NM_016507.4:c.3761-1456=	NM_016507.4:c.3761-1456A>G	NM_016507.4:c.3761-1456A>T
CDK12 transcript variant X1	XM_005257456.1:c.3758-1456=	XM_005257456.1:c.3758-1456A>G	XM_005257456.1:c.3758-1456A>T
CDK12 transcript variant X1	XM_005257456.5:c.3758-1456=	XM_005257456.5:c.3758-1456A>G	XM_005257456.5:c.3758-1456A>T
CDK12 transcript variant X2	XM_005257457.1:c.3605-1973=	XM_005257457.1:c.3605-1973A>G	XM_005257457.1:c.3605-1973A>T
CDK12 transcript variant X3	XM_005257458.1:c.3761-1425=	XM_005257458.1:c.3761-1425A>G	XM_005257458.1:c.3761-1425A>T
CDK12 transcript variant X3	XM_011524893.3:c.3761-1456=	XM_011524893.3:c.3761-1456A>G	XM_011524893.3:c.3761-1456A>T
CDK12 transcript variant X4	XM_011524894.3:c.3761-1456=	XM_011524894.3:c.3761-1456A>G	XM_011524894.3:c.3761-1456A>T
CDK12 transcript variant X10	XM_011524895.3:c.3761-1456=	XM_011524895.3:c.3761-1456A>G	XM_011524895.3:c.3761-1456A>T
CDK12 transcript variant X6	XM_011524897.3:c.3761-1456=	XM_011524897.3:c.3761-1456A>G	XM_011524897.3:c.3761-1456A>T
CDK12 transcript variant X13	XM_011524898.3:c.3761-1456=	XM_011524898.3:c.3761-1456A>G	XM_011524898.3:c.3761-1456A>T
CDK12 transcript variant X9	XM_011524906.3:c.3761-1456=	XM_011524906.3:c.3761-1456A>G	XM_011524906.3:c.3761-1456A>T
CDK12 transcript variant X41	XM_011524907.3:c.3760+2832=	XM_011524907.3:c.3760+2832A>G	XM_011524907.3:c.3760+2832A>T
CDK12 transcript variant X45	XM_017024753.3:c.3757+2832=	XM_017024753.3:c.3757+2832A>G	XM_017024753.3:c.3757+2832A>T
CDK12 transcript variant X2	XM_047436253.1:c.3758-1483=	XM_047436253.1:c.3758-1483A>G	XM_047436253.1:c.3758-1483A>T
CDK12 transcript variant X5	XM_047436255.1:c.3761-1456=	XM_047436255.1:c.3761-1456A>G	XM_047436255.1:c.3761-1456A>T
CDK12 transcript variant X7	XM_047436256.1:c.3761-1456=	XM_047436256.1:c.3761-1456A>G	XM_047436256.1:c.3761-1456A>T
CDK12 transcript variant X8	XM_047436257.1:c.3761-1456=	XM_047436257.1:c.3761-1456A>G	XM_047436257.1:c.3761-1456A>T
CDK12 transcript variant X11	XM_047436258.1:c.3761-1456=	XM_047436258.1:c.3761-1456A>G	XM_047436258.1:c.3761-1456A>T
CDK12 transcript variant X12	XM_047436259.1:c.3761-1456=	XM_047436259.1:c.3761-1456A>G	XM_047436259.1:c.3761-1456A>T
CDK12 transcript variant X14	XM_047436260.1:c.3761-1456=	XM_047436260.1:c.3761-1456A>G	XM_047436260.1:c.3761-1456A>T
CDK12 transcript variant X15	XM_047436261.1:c.3761-1456=	XM_047436261.1:c.3761-1456A>G	XM_047436261.1:c.3761-1456A>T
CDK12 transcript variant X16	XM_047436262.1:c.3758-1456=	XM_047436262.1:c.3758-1456A>G	XM_047436262.1:c.3758-1456A>T
CDK12 transcript variant X17	XM_047436263.1:c.3758-1456=	XM_047436263.1:c.3758-1456A>G	XM_047436263.1:c.3758-1456A>T
CDK12 transcript variant X18	XM_047436264.1:c.3758-1456=	XM_047436264.1:c.3758-1456A>G	XM_047436264.1:c.3758-1456A>T
CDK12 transcript variant X19	XM_047436265.1:c.3761-1483=	XM_047436265.1:c.3761-1483A>G	XM_047436265.1:c.3761-1483A>T
CDK12 transcript variant X20	XM_047436266.1:c.3761-1483=	XM_047436266.1:c.3761-1483A>G	XM_047436266.1:c.3761-1483A>T
CDK12 transcript variant X21	XM_047436267.1:c.3761-1483=	XM_047436267.1:c.3761-1483A>G	XM_047436267.1:c.3761-1483A>T
CDK12 transcript variant X22	XM_047436268.1:c.3761-1483=	XM_047436268.1:c.3761-1483A>G	XM_047436268.1:c.3761-1483A>T
CDK12 transcript variant X23	XM_047436269.1:c.3761-1483=	XM_047436269.1:c.3761-1483A>G	XM_047436269.1:c.3761-1483A>T
CDK12 transcript variant X24	XM_047436270.1:c.3761-1483=	XM_047436270.1:c.3761-1483A>G	XM_047436270.1:c.3761-1483A>T
CDK12 transcript variant X25	XM_047436272.1:c.3761-1483=	XM_047436272.1:c.3761-1483A>G	XM_047436272.1:c.3761-1483A>T
CDK12 transcript variant X26	XM_047436273.1:c.3761-1483=	XM_047436273.1:c.3761-1483A>G	XM_047436273.1:c.3761-1483A>T
CDK12 transcript variant X27	XM_047436274.1:c.3761-1483=	XM_047436274.1:c.3761-1483A>G	XM_047436274.1:c.3761-1483A>T
CDK12 transcript variant X28	XM_047436275.1:c.3761-1483=	XM_047436275.1:c.3761-1483A>G	XM_047436275.1:c.3761-1483A>T
CDK12 transcript variant X29	XM_047436276.1:c.3761-1483=	XM_047436276.1:c.3761-1483A>G	XM_047436276.1:c.3761-1483A>T
CDK12 transcript variant X30	XM_047436277.1:c.3761-1483=	XM_047436277.1:c.3761-1483A>G	XM_047436277.1:c.3761-1483A>T
CDK12 transcript variant X31	XM_047436278.1:c.3761-1483=	XM_047436278.1:c.3761-1483A>G	XM_047436278.1:c.3761-1483A>T
CDK12 transcript variant X32	XM_047436279.1:c.3761-1483=	XM_047436279.1:c.3761-1483A>G	XM_047436279.1:c.3761-1483A>T
CDK12 transcript variant X33	XM_047436280.1:c.3758-1483=	XM_047436280.1:c.3758-1483A>G	XM_047436280.1:c.3758-1483A>T
CDK12 transcript variant X34	XM_047436281.1:c.3758-1483=	XM_047436281.1:c.3758-1483A>G	XM_047436281.1:c.3758-1483A>T
CDK12 transcript variant X35	XM_047436282.1:c.3758-1483=	XM_047436282.1:c.3758-1483A>G	XM_047436282.1:c.3758-1483A>T
CDK12 transcript variant X36	XM_047436283.1:c.3758-1483=	XM_047436283.1:c.3758-1483A>G	XM_047436283.1:c.3758-1483A>T
CDK12 transcript variant X37	XM_047436284.1:c.3758-1483=	XM_047436284.1:c.3758-1483A>G	XM_047436284.1:c.3758-1483A>T
CDK12 transcript variant X38	XM_047436285.1:c.3758-1483=	XM_047436285.1:c.3758-1483A>G	XM_047436285.1:c.3758-1483A>T
CDK12 transcript variant X39	XM_047436286.1:c.3758-1483=	XM_047436286.1:c.3758-1483A>G	XM_047436286.1:c.3758-1483A>T
CDK12 transcript variant X40	XM_047436287.1:c.3760+2832=	XM_047436287.1:c.3760+2832A>G	XM_047436287.1:c.3760+2832A>T
CDK12 transcript variant X42	XM_047436288.1:c.3760+2832=	XM_047436288.1:c.3760+2832A>G	XM_047436288.1:c.3760+2832A>T
CDK12 transcript variant X43	XM_047436289.1:c.3760+2832=	XM_047436289.1:c.3760+2832A>G	XM_047436289.1:c.3760+2832A>T
CDK12 transcript variant X44	XM_047436290.1:c.3757+2832=	XM_047436290.1:c.3757+2832A>G	XM_047436290.1:c.3757+2832A>T
CDK12 transcript variant X46	XM_047436291.1:c.3757+2832=	XM_047436291.1:c.3757+2832A>G	XM_047436291.1:c.3757+2832A>T
CDK12 transcript variant X47	XM_047436292.1:c.3757+2832=	XM_047436292.1:c.3757+2832A>G	XM_047436292.1:c.3757+2832A>T
CDK12 transcript variant X48	XM_047436293.1:c.3682+2832=	XM_047436293.1:c.3682+2832A>G	XM_047436293.1:c.3682+2832A>T

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#.

94 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12392631	Jul 11, 2003 (116)
2	CSHL-HAPMAP	ss17578380	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss19359054	Feb 27, 2004 (120)
4	SSAHASNP	ss21419533	Apr 05, 2004 (121)
5	PERLEGEN	ss24140016	Sep 20, 2004 (123)
6	AFFY	ss66095018	Nov 29, 2006 (127)
7	PERLEGEN	ss69195999	May 16, 2007 (127)
8	ILLUMINA	ss75187686	Dec 07, 2007 (129)
9	AFFY	ss76054221	Dec 08, 2007 (130)
10	KRIBB_YJKIM	ss82543564	Dec 14, 2007 (130)
11	HGSV	ss85520426	Dec 14, 2007 (130)
12	BCMHGSC_JDW	ss90584413	Mar 24, 2008 (129)
13	HUMANGENOME_JCVI	ss96545046	Feb 04, 2009 (130)
14	BGI	ss106506124	Feb 04, 2009 (130)
15	1000GENOMES	ss109755154	Jan 24, 2009 (130)
16	1000GENOMES	ss113515992	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss118050696	Feb 14, 2009 (130)
18	ENSEMBL	ss136573501	Dec 01, 2009 (131)
19	ENSEMBL	ss137063668	Dec 01, 2009 (131)
20	GMI	ss158019607	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss168116076	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss169570364	Jul 04, 2010 (132)
23	COMPLETE_GENOMICS	ss171369494	Jul 04, 2010 (132)
24	AFFY	ss172337013	Jul 04, 2010 (132)
25	ILLUMINA	ss174702589	Jul 04, 2010 (132)
26	BUSHMAN	ss202492868	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss207859918	Jul 04, 2010 (132)
28	1000GENOMES	ss227540392	Jul 14, 2010 (132)
29	1000GENOMES	ss237238014	Jul 15, 2010 (132)
30	1000GENOMES	ss243538021	Jul 15, 2010 (132)
31	BL	ss255624558	May 09, 2011 (134)
32	GMI	ss282759955	May 04, 2012 (137)
33	GMI	ss287178183	Apr 25, 2013 (138)
34	PJP	ss292047558	May 09, 2011 (134)
35	ILLUMINA	ss537551624	Sep 08, 2015 (146)
36	TISHKOFF	ss565262175	Apr 25, 2013 (138)
37	SSMP	ss661063861	Apr 25, 2013 (138)
38	EVA-GONL	ss993088684	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1081045936	Aug 21, 2014 (142)
40	1000GENOMES	ss1358573689	Aug 21, 2014 (142)
41	DDI	ss1428028547	Apr 01, 2015 (144)
42	EVA_GENOME_DK	ss1578150316	Apr 01, 2015 (144)
43	EVA_UK10K_ALSPAC	ss1635612121	Apr 01, 2015 (144)
44	EVA_UK10K_TWINSUK	ss1678606154	Apr 01, 2015 (144)
45	EVA_DECODE	ss1697130612	Apr 01, 2015 (144)
46	EVA_SVP	ss1713581303	Apr 01, 2015 (144)
47	HAMMER_LAB	ss1808774155	Sep 08, 2015 (146)
48	WEILL_CORNELL_DGM	ss1936548368	Feb 12, 2016 (147)
49	GENOMED	ss1968386594	Jul 19, 2016 (147)
50	JJLAB	ss2029051998	Sep 14, 2016 (149)
51	ILLUMINA	ss2094894148	Dec 20, 2016 (150)
52	ILLUMINA	ss2095073513	Dec 20, 2016 (150)
53	USC_VALOUEV	ss2157520366	Dec 20, 2016 (150)
54	HUMAN_LONGEVITY	ss2216680891	Dec 20, 2016 (150)
55	SYSTEMSBIOZJU	ss2629021886	Nov 08, 2017 (151)
56	GRF	ss2702082223	Nov 08, 2017 (151)
57	GNOMAD	ss2949634907	Nov 08, 2017 (151)
58	SWEGEN	ss3015500951	Nov 08, 2017 (151)
59	BIOINF_KMB_FNS_UNIBA	ss3028346422	Nov 08, 2017 (151)
60	CSHL	ss3351738130	Nov 08, 2017 (151)
61	ILLUMINA	ss3627664199	Oct 12, 2018 (152)
62	ILLUMINA	ss3638159827	Oct 12, 2018 (152)
63	ILLUMINA	ss3643138481	Oct 12, 2018 (152)
64	URBANLAB	ss3650650027	Oct 12, 2018 (152)
65	ILLUMINA	ss3652191708	Oct 12, 2018 (152)
66	EGCUT_WGS	ss3682391525	Jul 13, 2019 (153)
67	EVA_DECODE	ss3700426243	Jul 13, 2019 (153)
68	ACPOP	ss3742009822	Jul 13, 2019 (153)
69	EVA	ss3754644077	Jul 13, 2019 (153)
70	PACBIO	ss3788197873	Jul 13, 2019 (153)
71	PACBIO	ss3793156516	Jul 13, 2019 (153)
72	PACBIO	ss3798042374	Jul 13, 2019 (153)
73	KHV_HUMAN_GENOMES	ss3819914950	Jul 13, 2019 (153)
74	EVA	ss3834857904	Apr 27, 2020 (154)
75	EVA	ss3841038986	Apr 27, 2020 (154)
76	EVA	ss3846535666	Apr 27, 2020 (154)
77	SGDP_PRJ	ss3885709343	Apr 27, 2020 (154)
78	KRGDB	ss3935384480	Apr 27, 2020 (154)
79	KOGIC	ss3978804970	Apr 27, 2020 (154)
80	EVA	ss4017765690	Apr 27, 2021 (155)
81	TOPMED	ss5035274885	Apr 27, 2021 (155)
82	TOMMO_GENOMICS	ss5222318769	Apr 27, 2021 (155)
83	1000G_HIGH_COVERAGE	ss5303061804	Oct 16, 2022 (156)
84	EVA	ss5427466802	Oct 16, 2022 (156)
85	HUGCELL_USP	ss5496126368	Oct 16, 2022 (156)
86	EVA	ss5511761123	Oct 16, 2022 (156)
87	1000G_HIGH_COVERAGE	ss5606747842	Oct 16, 2022 (156)
88	SANFORD_IMAGENETICS	ss5660064607	Oct 16, 2022 (156)
89	TOMMO_GENOMICS	ss5778494634	Oct 16, 2022 (156)
90	YY_MCH	ss5816527169	Oct 16, 2022 (156)
91	EVA	ss5833955686	Oct 16, 2022 (156)
92	EVA	ss5851801523	Oct 16, 2022 (156)
93	EVA	ss5913878282	Oct 16, 2022 (156)
94	EVA	ss5951457711	Oct 16, 2022 (156)
95	1000Genomes	NC_000017.10 - 37685401	Oct 12, 2018 (152)
96	1000Genomes_30x	NC_000017.11 - 39529148	Oct 16, 2022 (156)
97	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 37685401	Oct 12, 2018 (152)
98	Genetic variation in the Estonian population	NC_000017.10 - 37685401	Oct 12, 2018 (152)
99	The Danish reference pan genome	NC_000017.10 - 37685401	Apr 27, 2020 (154)
100	gnomAD - Genomes	NC_000017.11 - 39529148	Apr 27, 2021 (155)
101	Genome of the Netherlands Release 5	NC_000017.10 - 37685401	Apr 27, 2020 (154)
102	HapMap	NC_000017.11 - 39529148	Apr 27, 2020 (154)
103	KOREAN population from KRGDB	NC_000017.10 - 37685401	Apr 27, 2020 (154)
104	Korean Genome Project	NC_000017.11 - 39529148	Apr 27, 2020 (154)
105	Northern Sweden	NC_000017.10 - 37685401	Jul 13, 2019 (153)
106	Qatari	NC_000017.10 - 37685401	Apr 27, 2020 (154)
107	SGDP_PRJ	NC_000017.10 - 37685401	Apr 27, 2020 (154)
108	Siberian	NC_000017.10 - 37685401	Apr 27, 2020 (154)
109	8.3KJPN	NC_000017.10 - 37685401	Apr 27, 2021 (155)
110	14KJPN	NC_000017.11 - 39529148	Oct 16, 2022 (156)
111	TopMed	NC_000017.11 - 39529148	Apr 27, 2021 (155)
112	UK 10K study - Twins	NC_000017.10 - 37685401	Oct 12, 2018 (152)
113	A Vietnamese Genetic Variation Database	NC_000017.10 - 37685401	Jul 13, 2019 (153)
114	ALFA	NC_000017.11 - 39529148	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).

Associated ID	History Updated (Build)
rs56529214	May 24, 2008 (130)
rs57764339	Feb 26, 2009 (130)
rs57911600	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss85520426, ss90584413, ss109755154, ss113515992, ss118050696, ss168116076, ss169570364, ss171369494, ss202492868, ss207859918, ss255624558, ss282759955, ss287178183, ss292047558, ss1697130612, ss1713581303, ss2094894148, ss3643138481	NC_000017.9:34938926:A:G	NC_000017.11:39529147:A:G	(self)
71812475, 39803416, 28129773, 4352981, 17741816, 42561874, 15294687, 18590290, 37726323, 10036720, 80288076, 39803416, 8809978, ss227540392, ss237238014, ss243538021, ss537551624, ss565262175, ss661063861, ss993088684, ss1081045936, ss1358573689, ss1428028547, ss1578150316, ss1635612121, ss1678606154, ss1808774155, ss1936548368, ss1968386594, ss2029051998, ss2095073513, ss2157520366, ss2629021886, ss2702082223, ss2949634907, ss3015500951, ss3351738130, ss3627664199, ss3638159827, ss3652191708, ss3682391525, ss3742009822, ss3754644077, ss3788197873, ss3793156516, ss3798042374, ss3834857904, ss3841038986, ss3885709343, ss3935384480, ss4017765690, ss5222318769, ss5427466802, ss5511761123, ss5660064607, ss5833955686, ss5951457711	NC_000017.10:37685400:A:G	NC_000017.11:39529147:A:G	(self)
94273777, 506640444, 1485300, 35182971, 112331738, 250820547, 13939896653, ss2216680891, ss3028346422, ss3650650027, ss3700426243, ss3819914950, ss3846535666, ss3978804970, ss5035274885, ss5303061804, ss5496126368, ss5606747842, ss5778494634, ss5816527169, ss5851801523, ss5913878282	NC_000017.11:39529147:A:G	NC_000017.11:39529147:A:G	(self)
ss12392631	NT_010755.13:1409696:A:G	NC_000017.11:39529147:A:G	(self)
ss17578380, ss19359054, ss21419533	NT_010755.14:1409696:A:G	NC_000017.11:39529147:A:G	(self)
ss24140016, ss66095018, ss69195999, ss75187686, ss76054221, ss82543564, ss96545046, ss106506124, ss136573501, ss137063668, ss158019607, ss172337013, ss174702589	NT_010783.15:2959552:A:G	NC_000017.11:39529147:A:G	(self)
13939896653	NC_000017.11:39529147:A:T	NC_000017.11:39529147:A:T	(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 rs8069074

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs8069074