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dbSNP Short Genetic Variations

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.

rs199651585

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:100409538 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000015 (4/264690, TOPMED)
T=0.000004 (1/248666, GnomAD_exome)
T=0.000007 (1/140184, GnomAD) (+ 1 more)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZCWPW1 : Missense 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 14050 C=1.00000 T=0.00000
European Sub 9690 C=1.0000 T=0.0000
African Sub 2898 C=1.0000 T=0.0000
African Others Sub 114 C=1.000 T=0.000
African American Sub 2784 C=1.0000 T=0.0000
Asian Sub 112 C=1.000 T=0.000
East Asian Sub 86 C=1.00 T=0.00
Other Asian Sub 26 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 496 C=1.000 T=0.000


Help

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
TopMed Global Study-wide 264690 C=0.999985 T=0.000015
gnomAD - Exomes Global Study-wide 248666 C=0.999996 T=0.000004
gnomAD - Exomes European Sub 134470 C=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 48398 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34252 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 15460 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10044 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6042 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140184 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75924 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 42014 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13642 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2150 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
Help

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 7 NC_000007.14:g.100409538C>T
GRCh37.p13 chr 7 NC_000007.13:g.100007161C>T
Gene: ZCWPW1, zinc finger CW-type and PWWP domain containing 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZCWPW1 transcript variant 3 NM_001386008.1:c.283-2740…

NM_001386008.1:c.283-2740G>A

N/A Intron Variant
ZCWPW1 transcript variant 23 NM_001388066.1:c.-171= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant 10 NM_001386016.1:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 4 NP_001372945.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 14 NM_001386020.1:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 2 NP_001372949.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 6 NM_001386011.1:c.368G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 12 NP_001372940.1:p.Cys123Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 12 NM_001386018.1:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 6 NP_001372947.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 8 NM_001386013.1:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 6 NP_001372942.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 13 NM_001386019.1:c.557G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 10 NP_001372948.1:p.Cys186Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 15 NM_001386021.1:c.158G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 13 NP_001372950.1:p.Cys53Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 4 NM_001386009.1:c.557G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 10 NP_001372938.1:p.Cys186Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 11 NM_001386017.1:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 5 NP_001372946.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 7 NM_001386012.1:c.368G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 7 NP_001372941.1:p.Cys123Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 1 NM_017984.6:c.758G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 1 NP_060454.3:p.Cys253Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 9 NM_001386015.1:c.158G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 11 NP_001372944.1:p.Cys53Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 17 NM_001386023.1:c.557G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 9 NP_001372952.1:p.Cys186Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 5 NM_001386010.1:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 3 NP_001372939.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 16 NM_001386022.1:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 8 NP_001372951.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 2 NM_001258008.3:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform 2 NP_001244937.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant 19 NR_169829.1:n.373G>A N/A Non Coding Transcript Variant
ZCWPW1 transcript variant 25 NR_169835.1:n.250G>A N/A Non Coding Transcript Variant
ZCWPW1 transcript variant 29 NR_169839.1:n.267G>A N/A Non Coding Transcript Variant
ZCWPW1 transcript variant 20 NR_169830.1:n.250G>A N/A Non Coding Transcript Variant
ZCWPW1 transcript variant 26 NR_169836.1:n.267G>A N/A Non Coding Transcript Variant
ZCWPW1 transcript variant 22 NR_169832.1:n.582G>A N/A Non Coding Transcript Variant
ZCWPW1 transcript variant 24 NR_169834.1:n.525G>A N/A Non Coding Transcript Variant
ZCWPW1 transcript variant 21 NR_169831.1:n.250G>A N/A Non Coding Transcript Variant
ZCWPW1 transcript variant 27 NR_169837.1:n.267G>A N/A Non Coding Transcript Variant
ZCWPW1 transcript variant 18 NR_169828.1:n.250G>A N/A Non Coding Transcript Variant
ZCWPW1 transcript variant 28 NR_169838.1:n.267G>A N/A Non Coding Transcript Variant
ZCWPW1 transcript variant X12 XM_047420554.1:c.-242= N/A 5 Prime UTR Variant
ZCWPW1 transcript variant X1 XM_006716036.4:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform X1 XP_006716099.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant X2 XM_006716035.5:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform X1 XP_006716098.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant X3 XM_047420551.1:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform X2 XP_047276507.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant X4 XM_006716038.5:c.758G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform X3 XP_006716101.1:p.Cys253Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant X5 XM_047420552.1:c.758G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform X4 XP_047276508.1:p.Cys253Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant X6 XM_006716040.5:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform X5 XP_006716103.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant X7 XM_047420553.1:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform X6 XP_047276509.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant X8 XM_024446815.2:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform X6 XP_024302583.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant X9 XM_005250480.4:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform X7 XP_005250537.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant X10 XM_017012379.3:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform X8 XP_016867868.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
ZCWPW1 transcript variant X11 XM_024446817.2:c.761G>A C [TGT] > Y [TAT] Coding Sequence Variant
zinc finger CW-type PWWP domain protein 1 isoform X9 XP_024302585.1:p.Cys254Tyr C (Cys) > Y (Tyr) Missense Variant
Help

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
Help

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 C= T
GRCh38.p14 chr 7 NC_000007.14:g.100409538= NC_000007.14:g.100409538C>T
GRCh37.p13 chr 7 NC_000007.13:g.100007161= NC_000007.13:g.100007161C>T
ZCWPW1 transcript variant 1 NM_017984.6:c.758= NM_017984.6:c.758G>A
ZCWPW1 transcript variant 1 NM_017984.5:c.758= NM_017984.5:c.758G>A
ZCWPW1 transcript variant 1 NM_017984.4:c.758= NM_017984.4:c.758G>A
ZCWPW1 transcript variant X2 XM_006716035.5:c.761= XM_006716035.5:c.761G>A
ZCWPW1 transcript variant X1 XM_006716035.4:c.761= XM_006716035.4:c.761G>A
ZCWPW1 transcript variant X1 XM_006716035.3:c.761= XM_006716035.3:c.761G>A
ZCWPW1 transcript variant X1 XM_006716035.2:c.761= XM_006716035.2:c.761G>A
ZCWPW1 transcript variant X9 XM_006716035.1:c.761= XM_006716035.1:c.761G>A
ZCWPW1 transcript variant X4 XM_006716038.5:c.758= XM_006716038.5:c.758G>A
ZCWPW1 transcript variant X4 XM_006716038.4:c.758= XM_006716038.4:c.758G>A
ZCWPW1 transcript variant X4 XM_006716038.3:c.758= XM_006716038.3:c.758G>A
ZCWPW1 transcript variant X4 XM_006716038.2:c.758= XM_006716038.2:c.758G>A
ZCWPW1 transcript variant X12 XM_006716038.1:c.758= XM_006716038.1:c.758G>A
ZCWPW1 transcript variant X6 XM_006716040.5:c.761= XM_006716040.5:c.761G>A
ZCWPW1 transcript variant X5 XM_006716040.4:c.761= XM_006716040.4:c.761G>A
ZCWPW1 transcript variant X5 XM_006716040.3:c.761= XM_006716040.3:c.761G>A
ZCWPW1 transcript variant X5 XM_006716040.2:c.761= XM_006716040.2:c.761G>A
ZCWPW1 transcript variant X14 XM_006716040.1:c.761= XM_006716040.1:c.761G>A
ZCWPW1 transcript variant X1 XM_006716036.4:c.761= XM_006716036.4:c.761G>A
ZCWPW1 transcript variant X2 XM_006716036.3:c.761= XM_006716036.3:c.761G>A
ZCWPW1 transcript variant X2 XM_006716036.2:c.761= XM_006716036.2:c.761G>A
ZCWPW1 transcript variant X10 XM_006716036.1:c.761= XM_006716036.1:c.761G>A
ZCWPW1 transcript variant X9 XM_005250480.4:c.761= XM_005250480.4:c.761G>A
ZCWPW1 transcript variant X9 XM_005250480.3:c.761= XM_005250480.3:c.761G>A
ZCWPW1 transcript variant X7 XM_005250480.2:c.761= XM_005250480.2:c.761G>A
ZCWPW1 transcript variant X7 XM_005250480.1:c.761= XM_005250480.1:c.761G>A
ZCWPW1 transcript variant 2 NM_001258008.3:c.761= NM_001258008.3:c.761G>A
ZCWPW1 transcript variant 2 NM_001258008.2:c.761= NM_001258008.2:c.761G>A
ZCWPW1 transcript variant 2 NM_001258008.1:c.761= NM_001258008.1:c.761G>A
ZCWPW1 transcript variant X10 XM_017012379.3:c.761= XM_017012379.3:c.761G>A
ZCWPW1 transcript variant X10 XM_017012379.2:c.761= XM_017012379.2:c.761G>A
ZCWPW1 transcript variant X8 XM_017012379.1:c.761= XM_017012379.1:c.761G>A
ZCWPW1 transcript variant X8 XM_024446815.2:c.761= XM_024446815.2:c.761G>A
ZCWPW1 transcript variant X6 XM_024446815.1:c.761= XM_024446815.1:c.761G>A
ZCWPW1 transcript variant X11 XM_024446817.2:c.761= XM_024446817.2:c.761G>A
ZCWPW1 transcript variant X12 XM_024446817.1:c.761= XM_024446817.1:c.761G>A
ZCWPW1 transcript variant 11 NM_001386017.1:c.761= NM_001386017.1:c.761G>A
ZCWPW1 transcript variant X3 XM_047420551.1:c.761= XM_047420551.1:c.761G>A
ZCWPW1 transcript variant X5 XM_047420552.1:c.758= XM_047420552.1:c.758G>A
ZCWPW1 transcript variant 5 NM_001386010.1:c.761= NM_001386010.1:c.761G>A
ZCWPW1 transcript variant 10 NM_001386016.1:c.761= NM_001386016.1:c.761G>A
ZCWPW1 transcript variant X7 XM_047420553.1:c.761= XM_047420553.1:c.761G>A
ZCWPW1 transcript variant 12 NM_001386018.1:c.761= NM_001386018.1:c.761G>A
ZCWPW1 transcript variant 14 NM_001386020.1:c.761= NM_001386020.1:c.761G>A
ZCWPW1 transcript variant 8 NM_001386013.1:c.761= NM_001386013.1:c.761G>A
ZCWPW1 transcript variant 13 NM_001386019.1:c.557= NM_001386019.1:c.557G>A
ZCWPW1 transcript variant 16 NM_001386022.1:c.761= NM_001386022.1:c.761G>A
ZCWPW1 transcript variant 17 NM_001386023.1:c.557= NM_001386023.1:c.557G>A
ZCWPW1 transcript variant 4 NM_001386009.1:c.557= NM_001386009.1:c.557G>A
ZCWPW1 transcript variant 7 NM_001386012.1:c.368= NM_001386012.1:c.368G>A
ZCWPW1 transcript variant 22 NR_169832.1:n.582= NR_169832.1:n.582G>A
ZCWPW1 transcript variant 9 NM_001386015.1:c.158= NM_001386015.1:c.158G>A
ZCWPW1 transcript variant 6 NM_001386011.1:c.368= NM_001386011.1:c.368G>A
ZCWPW1 transcript variant 24 NR_169834.1:n.525= NR_169834.1:n.525G>A
ZCWPW1 transcript variant 28 NR_169838.1:n.267= NR_169838.1:n.267G>A
ZCWPW1 transcript variant X12 XM_047420554.1:c.-242= XM_047420554.1:c.-242G>A
ZCWPW1 transcript variant 15 NM_001386021.1:c.158= NM_001386021.1:c.158G>A
ZCWPW1 transcript variant 27 NR_169837.1:n.267= NR_169837.1:n.267G>A
ZCWPW1 transcript variant 23 NR_169833.1:n.373= NR_169833.1:n.373G>A
ZCWPW1 transcript variant 23 NM_001388066.1:c.-171= NM_001388066.1:c.-171G>A
ZCWPW1 transcript variant 18 NR_169828.1:n.250= NR_169828.1:n.250G>A
ZCWPW1 transcript variant 26 NR_169836.1:n.267= NR_169836.1:n.267G>A
ZCWPW1 transcript variant 21 NR_169831.1:n.250= NR_169831.1:n.250G>A
ZCWPW1 transcript variant 19 NR_169829.1:n.373= NR_169829.1:n.373G>A
ZCWPW1 transcript variant 29 NR_169839.1:n.267= NR_169839.1:n.267G>A
ZCWPW1 transcript variant 20 NR_169830.1:n.250= NR_169830.1:n.250G>A
ZCWPW1 transcript variant 25 NR_169835.1:n.250= NR_169835.1:n.250G>A
zinc finger CW-type PWWP domain protein 1 isoform 1 NP_060454.3:p.Cys253= NP_060454.3:p.Cys253Tyr
zinc finger CW-type PWWP domain protein 1 isoform X1 XP_006716098.1:p.Cys254= XP_006716098.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform X3 XP_006716101.1:p.Cys253= XP_006716101.1:p.Cys253Tyr
zinc finger CW-type PWWP domain protein 1 isoform X5 XP_006716103.1:p.Cys254= XP_006716103.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform X1 XP_006716099.1:p.Cys254= XP_006716099.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform X7 XP_005250537.1:p.Cys254= XP_005250537.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform 2 NP_001244937.1:p.Cys254= NP_001244937.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform X8 XP_016867868.1:p.Cys254= XP_016867868.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform X6 XP_024302583.1:p.Cys254= XP_024302583.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform X9 XP_024302585.1:p.Cys254= XP_024302585.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform 5 NP_001372946.1:p.Cys254= NP_001372946.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform X2 XP_047276507.1:p.Cys254= XP_047276507.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform X4 XP_047276508.1:p.Cys253= XP_047276508.1:p.Cys253Tyr
zinc finger CW-type PWWP domain protein 1 isoform 3 NP_001372939.1:p.Cys254= NP_001372939.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform 4 NP_001372945.1:p.Cys254= NP_001372945.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform X6 XP_047276509.1:p.Cys254= XP_047276509.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform 6 NP_001372947.1:p.Cys254= NP_001372947.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform 2 NP_001372949.1:p.Cys254= NP_001372949.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform 6 NP_001372942.1:p.Cys254= NP_001372942.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform 10 NP_001372948.1:p.Cys186= NP_001372948.1:p.Cys186Tyr
zinc finger CW-type PWWP domain protein 1 isoform 8 NP_001372951.1:p.Cys254= NP_001372951.1:p.Cys254Tyr
zinc finger CW-type PWWP domain protein 1 isoform 9 NP_001372952.1:p.Cys186= NP_001372952.1:p.Cys186Tyr
zinc finger CW-type PWWP domain protein 1 isoform 10 NP_001372938.1:p.Cys186= NP_001372938.1:p.Cys186Tyr
zinc finger CW-type PWWP domain protein 1 isoform 7 NP_001372941.1:p.Cys123= NP_001372941.1:p.Cys123Tyr
zinc finger CW-type PWWP domain protein 1 isoform 11 NP_001372944.1:p.Cys53= NP_001372944.1:p.Cys53Tyr
zinc finger CW-type PWWP domain protein 1 isoform 12 NP_001372940.1:p.Cys123= NP_001372940.1:p.Cys123Tyr
zinc finger CW-type PWWP domain protein 1 isoform 13 NP_001372950.1:p.Cys53= NP_001372950.1:p.Cys53Tyr
ZCWPW1 transcript variant 3 NM_001386008.1:c.283-2740= NM_001386008.1:c.283-2740G>A
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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#.

4 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 CLINSEQ_SNP ss491910953 May 04, 2012 (137)
2 GNOMAD ss2736615979 Nov 08, 2017 (151)
3 GNOMAD ss4169488146 Apr 26, 2021 (155)
4 TOPMED ss4756744878 Apr 26, 2021 (155)
5 gnomAD - Genomes NC_000007.14 - 100409538 Apr 26, 2021 (155)
6 gnomAD - Exomes NC_000007.13 - 100007161 Jul 13, 2019 (153)
7 TopMed NC_000007.14 - 100409538 Apr 26, 2021 (155)
8 ALFA NC_000007.14 - 100409538 Apr 26, 2021 (155)
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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
ss491910953 NC_000007.12:99845096:C:T NC_000007.14:100409537:C:T (self)
5781226, ss2736615979 NC_000007.13:100007160:C:T NC_000007.14:100409537:C:T (self)
270791248, 594122437, 14254055693, ss4169488146, ss4756744878 NC_000007.14:100409537:C:T NC_000007.14:100409537:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs199651585

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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.

Software version is: 2.0.1.post761+d5e8e07