SNP Links for Protein (Select 115430235) - SNP

Select item 14895110331.

rs1489511033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4932787 (GRCh38)
19:4932799 (GRCh37)
Canonical SPDI:: NC_000019.10:4932786:G:A
Gene:: UHRF1 (Varview), MIR4747 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4932787G>A, NC_000019.9:g.4932799G>A, NG_033256.2:g.34708G>A, NM_013282.5:c.655G>A, NM_013282.4:c.655G>A, NM_013282.3:c.655G>A, NM_001048201.3:c.616G>A, NM_001048201.2:c.616G>A, NM_001048201.1:c.616G>A, NM_001290050.2:c.616G>A, NM_001290050.1:c.616G>A, NM_001290052.2:c.616G>A, NM_001290052.1:c.616G>A, NM_001290051.2:c.616G>A, NM_001290051.1:c.616G>A, XM_011527942.2:c.616G>A, XM_011527942.1:c.616G>A, XM_047438708.1:c.655G>A, XM_047438709.1:c.616G>A, XM_047438707.1:c.616G>A, NP_037414.3:p.Ala219Thr, NP_001041666.1:p.Ala206Thr, NP_001276979.1:p.Ala206Thr, NP_001276981.1:p.Ala206Thr, NP_001276980.1:p.Ala206Thr, XP_011526244.1:p.Ala206Thr, XP_047294664.1:p.Ala219Thr, XP_047294665.1:p.Ala206Thr, XP_047294663.1:p.Ala206Thr

Select item 14894791062.

rs1489479106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4941839 (GRCh38)
19:4941851 (GRCh37)
Canonical SPDI:: NC_000019.10:4941838:C:T
Gene:: UHRF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4941839C>T, NC_000019.9:g.4941851C>T, NG_033256.2:g.43760C>T, NM_013282.5:c.1020C>T, NM_013282.4:c.1020C>T, NM_013282.3:c.1020C>T, NM_001048201.3:c.981C>T, NM_001048201.2:c.981C>T, NM_001048201.1:c.981C>T, NM_001290050.2:c.981C>T, NM_001290050.1:c.981C>T, NM_001290052.2:c.981C>T, NM_001290052.1:c.981C>T, NM_001290051.2:c.981C>T, NM_001290051.1:c.981C>T, XM_011527942.2:c.981C>T, XM_011527942.1:c.981C>T, XM_047438708.1:c.1020C>T, XM_047438709.1:c.981C>T, XM_047438707.1:c.981C>T

Select item 14879378243.

rs1487937824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4956781 (GRCh38)
19:4956792 (GRCh37)
Canonical SPDI:: NC_000019.10:4956780:A:G
Gene:: UHRF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4956781A>G, NC_000019.9:g.4956792A>G, NG_033256.2:g.58702A>G, NM_013282.5:c.2242A>G, NM_013282.4:c.2242A>G, NM_013282.3:c.2242A>G, NM_001048201.3:c.2203A>G, NM_001048201.2:c.2203A>G, NM_001048201.1:c.2203A>G, NM_001290050.2:c.2203A>G, NM_001290050.1:c.2203A>G, NM_001290052.2:c.2203A>G, NM_001290052.1:c.2203A>G, NM_001290051.2:c.2203A>G, NM_001290051.1:c.2203A>G, XM_011527942.2:c.2098A>G, XM_011527942.1:c.2098A>G, XM_047438708.1:c.2137A>G, XM_047438709.1:c.2098A>G, XM_047438707.1:c.2098A>G, NP_037414.3:p.Ile748Val, NP_001041666.1:p.Ile735Val, NP_001276979.1:p.Ile735Val, NP_001276981.1:p.Ile735Val, NP_001276980.1:p.Ile735Val, XP_011526244.1:p.Ile700Val, XP_047294664.1:p.Ile713Val, XP_047294665.1:p.Ile700Val, XP_047294663.1:p.Ile700Val

Select item 14877877764.

rs1487787776 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:4945892 (GRCh38)
19:4945905 (GRCh37)
Canonical SPDI:: NC_000019.10:4945892:GG:GGG
Gene:: UHRF1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.00016/1 (ALFA)
G=0.00008/1 (GoESP)
HGVS:: NC_000019.10:g.4945894dup, NC_000019.9:g.4945906dup, NG_033256.2:g.47815dup, NM_013282.5:c.1378dup, NM_013282.4:c.1378dup, NM_013282.3:c.1378dup, NM_001048201.3:c.1339dup, NM_001048201.2:c.1339dup, NM_001048201.1:c.1339dup, NM_001290050.2:c.1339dup, NM_001290050.1:c.1339dup, NM_001290052.2:c.1339dup, NM_001290052.1:c.1339dup, NM_001290051.2:c.1339dup, NM_001290051.1:c.1339dup, NP_037414.3:p.Ala460fs, NP_001041666.1:p.Ala447fs, NP_001276979.1:p.Ala447fs, NP_001276981.1:p.Ala447fs, NP_001276980.1:p.Ala447fs

Select item 14873118565.

rs1487311856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4954763 (GRCh38)
19:4954774 (GRCh37)
Canonical SPDI:: NC_000019.10:4954762:G:A
Gene:: UHRF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4954763G>A, NC_000019.9:g.4954774G>A, NG_033256.2:g.56684G>A, NM_013282.5:c.2110G>A, NM_013282.4:c.2110G>A, NM_013282.3:c.2110G>A, NM_001048201.3:c.2071G>A, NM_001048201.2:c.2071G>A, NM_001048201.1:c.2071G>A, NM_001290050.2:c.2071G>A, NM_001290050.1:c.2071G>A, NM_001290052.2:c.2071G>A, NM_001290052.1:c.2071G>A, NM_001290051.2:c.2071G>A, NM_001290051.1:c.2071G>A, XM_011527942.2:c.1966G>A, XM_011527942.1:c.1966G>A, XM_047438708.1:c.2005G>A, XM_047438709.1:c.1966G>A, XM_047438707.1:c.1966G>A, NP_037414.3:p.Ala704Thr, NP_001041666.1:p.Ala691Thr, NP_001276979.1:p.Ala691Thr, NP_001276981.1:p.Ala691Thr, NP_001276980.1:p.Ala691Thr, XP_011526244.1:p.Ala656Thr, XP_047294664.1:p.Ala669Thr, XP_047294665.1:p.Ala656Thr, XP_047294663.1:p.Ala656Thr

Select item 14872410966.

rs1487241096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4956774 (GRCh38)
19:4956785 (GRCh37)
Canonical SPDI:: NC_000019.10:4956773:C:T
Gene:: UHRF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4956774C>T, NC_000019.9:g.4956785C>T, NG_033256.2:g.58695C>T, NM_013282.5:c.2235C>T, NM_013282.4:c.2235C>T, NM_013282.3:c.2235C>T, NM_001048201.3:c.2196C>T, NM_001048201.2:c.2196C>T, NM_001048201.1:c.2196C>T, NM_001290050.2:c.2196C>T, NM_001290050.1:c.2196C>T, NM_001290052.2:c.2196C>T, NM_001290052.1:c.2196C>T, NM_001290051.2:c.2196C>T, NM_001290051.1:c.2196C>T, XM_011527942.2:c.2091C>T, XM_011527942.1:c.2091C>T, XM_047438708.1:c.2130C>T, XM_047438709.1:c.2091C>T, XM_047438707.1:c.2091C>T

Select item 14862502587.

rs1486250258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4956813 (GRCh38)
19:4956824 (GRCh37)
Canonical SPDI:: NC_000019.10:4956812:G:A
Gene:: UHRF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.4956813G>A, NC_000019.9:g.4956824G>A, NG_033256.2:g.58734G>A, NM_013282.5:c.2274G>A, NM_013282.4:c.2274G>A, NM_013282.3:c.2274G>A, NM_001048201.3:c.2235G>A, NM_001048201.2:c.2235G>A, NM_001048201.1:c.2235G>A, NM_001290050.2:c.2235G>A, NM_001290050.1:c.2235G>A, NM_001290052.2:c.2235G>A, NM_001290052.1:c.2235G>A, NM_001290051.2:c.2235G>A, NM_001290051.1:c.2235G>A, XM_011527942.2:c.2130G>A, XM_011527942.1:c.2130G>A, XM_047438708.1:c.2169G>A, XM_047438709.1:c.2130G>A, XM_047438707.1:c.2130G>A

Select item 14822870158.

rs1482287015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4910949 (GRCh38)
19:4910961 (GRCh37)
Canonical SPDI:: NC_000019.10:4910948:C:T
Gene:: UHRF1 (Varview), ARRDC5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.4910949C>T, NC_000019.9:g.4910961C>T, NG_033256.2:g.12870C>T, NM_013282.5:c.103C>T, NM_013282.4:c.103C>T, NM_013282.3:c.103C>T, NM_001048201.3:c.64C>T, NM_001048201.2:c.64C>T, NM_001048201.1:c.64C>T, NM_001290050.2:c.64C>T, NM_001290050.1:c.64C>T, NM_001290052.2:c.64C>T, NM_001290052.1:c.64C>T, NM_001290051.2:c.64C>T, NM_001290051.1:c.64C>T, XM_011527942.2:c.64C>T, XM_011527942.1:c.64C>T, XM_047438708.1:c.103C>T, XM_047438709.1:c.64C>T, XM_047438707.1:c.64C>T

Select item 14822557829.

rs1482255782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:4930827 (GRCh38)
19:4930839 (GRCh37)
Canonical SPDI:: NC_000019.10:4930826:T:C
Gene:: UHRF1 (Varview), MIR4747 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4930827T>C, NC_000019.9:g.4930839T>C, NG_033256.2:g.32748T>C, NM_013282.5:c.559T>C, NM_013282.4:c.559T>C, NM_013282.3:c.559T>C, NM_001048201.3:c.520T>C, NM_001048201.2:c.520T>C, NM_001048201.1:c.520T>C, NM_001290050.2:c.520T>C, NM_001290050.1:c.520T>C, NM_001290052.2:c.520T>C, NM_001290052.1:c.520T>C, NM_001290051.2:c.520T>C, NM_001290051.1:c.520T>C, XM_011527942.2:c.520T>C, XM_011527942.1:c.520T>C, XM_047438708.1:c.559T>C, XM_047438709.1:c.520T>C, XM_047438707.1:c.520T>C, NP_037414.3:p.Ser187Pro, NP_001041666.1:p.Ser174Pro, NP_001276979.1:p.Ser174Pro, NP_001276981.1:p.Ser174Pro, NP_001276980.1:p.Ser174Pro, XP_011526244.1:p.Ser174Pro, XP_047294664.1:p.Ser187Pro, XP_047294665.1:p.Ser174Pro, XP_047294663.1:p.Ser174Pro

Select item 147838719510.

rs1478387195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4960708 (GRCh38)
19:4960719 (GRCh37)
Canonical SPDI:: NC_000019.10:4960707:C:T
Gene:: UHRF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4960708C>T, NC_000019.9:g.4960719C>T, NG_033256.2:g.62629C>T, NM_013282.5:c.2326C>T, NM_013282.4:c.2326C>T, NM_013282.3:c.2326C>T, NM_001048201.3:c.2287C>T, NM_001048201.2:c.2287C>T, NM_001048201.1:c.2287C>T, NM_001290050.2:c.2287C>T, NM_001290050.1:c.2287C>T, NM_001290052.2:c.2287C>T, NM_001290052.1:c.2287C>T, NM_001290051.2:c.2287C>T, NM_001290051.1:c.2287C>T, XM_011527942.2:c.2182C>T, XM_011527942.1:c.2182C>T, XM_047438708.1:c.2221C>T, XM_047438709.1:c.2182C>T, XM_047438707.1:c.2182C>T, NP_037414.3:p.Arg776Cys, NP_001041666.1:p.Arg763Cys, NP_001276979.1:p.Arg763Cys, NP_001276981.1:p.Arg763Cys, NP_001276980.1:p.Arg763Cys, XP_011526244.1:p.Arg728Cys, XP_047294664.1:p.Arg741Cys, XP_047294665.1:p.Arg728Cys, XP_047294663.1:p.Arg728Cys

Select item 147642869411.

rs1476428694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:4954653 (GRCh38)
19:4954665 (GRCh37)
Canonical SPDI:: NC_000019.10:4954652:G:A,NC_000019.10:4954652:G:T
Gene:: UHRF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
HGVS:: NC_000019.10:g.4954653G>A, NC_000019.10:g.4954653G>T, NC_000019.9:g.4954665G>A, NC_000019.9:g.4954665G>T, NG_033256.2:g.56574G>A, NG_033256.2:g.56574G>T, NM_013282.5:c.2000G>A, NM_013282.5:c.2000G>T, NM_013282.4:c.2000G>A, NM_013282.4:c.2000G>T, NM_013282.3:c.2000G>A, NM_013282.3:c.2000G>T, NM_001048201.3:c.1961G>A, NM_001048201.3:c.1961G>T, NM_001048201.2:c.1961G>A, NM_001048201.2:c.1961G>T, NM_001048201.1:c.1961G>A, NM_001048201.1:c.1961G>T, NM_001290050.2:c.1961G>A, NM_001290050.2:c.1961G>T, NM_001290050.1:c.1961G>A, NM_001290050.1:c.1961G>T, NM_001290052.2:c.1961G>A, NM_001290052.2:c.1961G>T, NM_001290052.1:c.1961G>A, NM_001290052.1:c.1961G>T, NM_001290051.2:c.1961G>A, NM_001290051.2:c.1961G>T, NM_001290051.1:c.1961G>A, NM_001290051.1:c.1961G>T, XM_011527942.2:c.1856G>A, XM_011527942.2:c.1856G>T, XM_011527942.1:c.1856G>A, XM_011527942.1:c.1856G>T, XM_047438708.1:c.1895G>A, XM_047438708.1:c.1895G>T, XM_047438709.1:c.1856G>A, XM_047438709.1:c.1856G>T, XM_047438707.1:c.1856G>A, XM_047438707.1:c.1856G>T, NP_037414.3:p.Gly667Asp, NP_037414.3:p.Gly667Val, NP_001041666.1:p.Gly654Asp, NP_001041666.1:p.Gly654Val, NP_001276979.1:p.Gly654Asp, NP_001276979.1:p.Gly654Val, NP_001276981.1:p.Gly654Asp, NP_001276981.1:p.Gly654Val, NP_001276980.1:p.Gly654Asp, NP_001276980.1:p.Gly654Val, XP_011526244.1:p.Gly619Asp, XP_011526244.1:p.Gly619Val, XP_047294664.1:p.Gly632Asp, XP_047294664.1:p.Gly632Val, XP_047294665.1:p.Gly619Asp, XP_047294665.1:p.Gly619Val, XP_047294663.1:p.Gly619Asp, XP_047294663.1:p.Gly619Val

Select item 147575825512.

rs1475758255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:4941534 (GRCh38)
19:4941546 (GRCh37)
Canonical SPDI:: NC_000019.10:4941533:T:C
Gene:: UHRF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4941534T>C, NC_000019.9:g.4941546T>C, NG_033256.2:g.43455T>C, NM_013282.5:c.831T>C, NM_013282.4:c.831T>C, NM_013282.3:c.831T>C, NM_001048201.3:c.792T>C, NM_001048201.2:c.792T>C, NM_001048201.1:c.792T>C, NM_001290050.2:c.792T>C, NM_001290050.1:c.792T>C, NM_001290052.2:c.792T>C, NM_001290052.1:c.792T>C, NM_001290051.2:c.792T>C, NM_001290051.1:c.792T>C, XM_011527942.2:c.792T>C, XM_011527942.1:c.792T>C, XM_047438708.1:c.831T>C, XM_047438709.1:c.792T>C, XM_047438707.1:c.792T>C

Select item 147525690613.

rs1475256906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4941910 (GRCh38)
19:4941922 (GRCh37)
Canonical SPDI:: NC_000019.10:4941909:G:A
Gene:: UHRF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4941910G>A, NC_000019.9:g.4941922G>A, NG_033256.2:g.43831G>A, NM_013282.5:c.1091G>A, NM_013282.4:c.1091G>A, NM_013282.3:c.1091G>A, NM_001048201.3:c.1052G>A, NM_001048201.2:c.1052G>A, NM_001048201.1:c.1052G>A, NM_001290050.2:c.1052G>A, NM_001290050.1:c.1052G>A, NM_001290052.2:c.1052G>A, NM_001290052.1:c.1052G>A, NM_001290051.2:c.1052G>A, NM_001290051.1:c.1052G>A, XM_011527942.2:c.1052G>A, XM_011527942.1:c.1052G>A, XM_047438708.1:c.1091G>A, XM_047438709.1:c.1052G>A, XM_047438707.1:c.1052G>A, NP_037414.3:p.Ser364Asn, NP_001041666.1:p.Ser351Asn, NP_001276979.1:p.Ser351Asn, NP_001276981.1:p.Ser351Asn, NP_001276980.1:p.Ser351Asn, XP_011526244.1:p.Ser351Asn, XP_047294664.1:p.Ser364Asn, XP_047294665.1:p.Ser351Asn, XP_047294663.1:p.Ser351Asn

Select item 147488912214.

rs1474889122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4944382 (GRCh38)
19:4944394 (GRCh37)
Canonical SPDI:: NC_000019.10:4944381:G:A
Gene:: UHRF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4944382G>A, NC_000019.9:g.4944394G>A, NG_033256.2:g.46303G>A, NM_013282.5:c.1276G>A, NM_013282.4:c.1276G>A, NM_013282.3:c.1276G>A, NM_001048201.3:c.1237G>A, NM_001048201.2:c.1237G>A, NM_001048201.1:c.1237G>A, NM_001290050.2:c.1237G>A, NM_001290050.1:c.1237G>A, NM_001290052.2:c.1237G>A, NM_001290052.1:c.1237G>A, NM_001290051.2:c.1237G>A, NM_001290051.1:c.1237G>A, XM_011527942.2:c.1237G>A, XM_011527942.1:c.1237G>A, XM_047438708.1:c.1276G>A, XM_047438709.1:c.1237G>A, XM_047438707.1:c.1237G>A, NP_037414.3:p.Val426Ile, NP_001041666.1:p.Val413Ile, NP_001276979.1:p.Val413Ile, NP_001276981.1:p.Val413Ile, NP_001276980.1:p.Val413Ile, XP_011526244.1:p.Val413Ile, XP_047294664.1:p.Val426Ile, XP_047294665.1:p.Val413Ile, XP_047294663.1:p.Val413Ile

Select item 147267337515.

rs1472673375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4954710 (GRCh38)
19:4954721 (GRCh37)
Canonical SPDI:: NC_000019.10:4954709:C:T
Gene:: UHRF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4954710C>T, NC_000019.9:g.4954721C>T, NG_033256.2:g.56631C>T, NM_013282.5:c.2057C>T, NM_013282.4:c.2057C>T, NM_013282.3:c.2057C>T, NM_001048201.3:c.2018C>T, NM_001048201.2:c.2018C>T, NM_001048201.1:c.2018C>T, NM_001290050.2:c.2018C>T, NM_001290050.1:c.2018C>T, NM_001290052.2:c.2018C>T, NM_001290052.1:c.2018C>T, NM_001290051.2:c.2018C>T, NM_001290051.1:c.2018C>T, XM_011527942.2:c.1913C>T, XM_011527942.1:c.1913C>T, XM_047438708.1:c.1952C>T, XM_047438709.1:c.1913C>T, XM_047438707.1:c.1913C>T, NP_037414.3:p.Pro686Leu, NP_001041666.1:p.Pro673Leu, NP_001276979.1:p.Pro673Leu, NP_001276981.1:p.Pro673Leu, NP_001276980.1:p.Pro673Leu, XP_011526244.1:p.Pro638Leu, XP_047294664.1:p.Pro651Leu, XP_047294665.1:p.Pro638Leu, XP_047294663.1:p.Pro638Leu

Select item 147019858716.

rs1470198587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4945914 (GRCh38)
19:4945926 (GRCh37)
Canonical SPDI:: NC_000019.10:4945913:C:T
Gene:: UHRF1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.4945914C>T, NC_000019.9:g.4945926C>T, NG_033256.2:g.47835C>T, NM_013282.5:c.1398C>T, NM_013282.4:c.1398C>T, NM_013282.3:c.1398C>T, NM_001048201.3:c.1359C>T, NM_001048201.2:c.1359C>T, NM_001048201.1:c.1359C>T, NM_001290050.2:c.1359C>T, NM_001290050.1:c.1359C>T, NM_001290052.2:c.1359C>T, NM_001290052.1:c.1359C>T, NM_001290051.2:c.1359C>T, NM_001290051.1:c.1359C>T

Select item 147019018717.

rs1470190187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:4929268 (GRCh38)
19:4929280 (GRCh37)
Canonical SPDI:: NC_000019.10:4929267:A:C
Gene:: UHRF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4929268A>C, NC_000019.9:g.4929280A>C, NG_033256.2:g.31189A>C, NM_013282.5:c.239A>C, NM_013282.4:c.239A>C, NM_013282.3:c.239A>C, NM_001048201.3:c.200A>C, NM_001048201.2:c.200A>C, NM_001048201.1:c.200A>C, NM_001290050.2:c.200A>C, NM_001290050.1:c.200A>C, NM_001290052.2:c.200A>C, NM_001290052.1:c.200A>C, NM_001290051.2:c.200A>C, NM_001290051.1:c.200A>C, XM_011527942.2:c.200A>C, XM_011527942.1:c.200A>C, XM_047438708.1:c.239A>C, XM_047438709.1:c.200A>C, XM_047438707.1:c.200A>C, NP_037414.3:p.Asp80Ala, NP_001041666.1:p.Asp67Ala, NP_001276979.1:p.Asp67Ala, NP_001276981.1:p.Asp67Ala, NP_001276980.1:p.Asp67Ala, XP_011526244.1:p.Asp67Ala, XP_047294664.1:p.Asp80Ala, XP_047294665.1:p.Asp67Ala, XP_047294663.1:p.Asp67Ala

Select item 146811311118.

rs1468113111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4950990 (GRCh38)
19:4951002 (GRCh37)
Canonical SPDI:: NC_000019.10:4950989:C:T
Gene:: UHRF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000019.10:g.4950990C>T, NC_000019.9:g.4951002C>T, NG_033256.2:g.52911C>T, NM_013282.5:c.1851C>T, NM_013282.4:c.1851C>T, NM_013282.3:c.1851C>T, NM_001048201.3:c.1812C>T, NM_001048201.2:c.1812C>T, NM_001048201.1:c.1812C>T, NM_001290050.2:c.1812C>T, NM_001290050.1:c.1812C>T, NM_001290052.2:c.1812C>T, NM_001290052.1:c.1812C>T, NM_001290051.2:c.1812C>T, NM_001290051.1:c.1812C>T, XM_011527942.2:c.1707C>T, XM_011527942.1:c.1707C>T, XM_047438708.1:c.1746C>T, XM_047438709.1:c.1707C>T, XM_047438707.1:c.1707C>T

Select item 146751018219.

rs1467510182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:4941903 (GRCh38)
19:4941915 (GRCh37)
Canonical SPDI:: NC_000019.10:4941902:C:A
Gene:: UHRF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.4941903C>A, NC_000019.9:g.4941915C>A, NG_033256.2:g.43824C>A, NM_013282.5:c.1084C>A, NM_013282.4:c.1084C>A, NM_013282.3:c.1084C>A, NM_001048201.3:c.1045C>A, NM_001048201.2:c.1045C>A, NM_001048201.1:c.1045C>A, NM_001290050.2:c.1045C>A, NM_001290050.1:c.1045C>A, NM_001290052.2:c.1045C>A, NM_001290052.1:c.1045C>A, NM_001290051.2:c.1045C>A, NM_001290051.1:c.1045C>A, XM_011527942.2:c.1045C>A, XM_011527942.1:c.1045C>A, XM_047438708.1:c.1084C>A, XM_047438709.1:c.1045C>A, XM_047438707.1:c.1045C>A, NP_037414.3:p.Leu362Ile, NP_001041666.1:p.Leu349Ile, NP_001276979.1:p.Leu349Ile, NP_001276981.1:p.Leu349Ile, NP_001276980.1:p.Leu349Ile, XP_011526244.1:p.Leu349Ile, XP_047294664.1:p.Leu362Ile, XP_047294665.1:p.Leu349Ile, XP_047294663.1:p.Leu349Ile

Select item 146538156820.

rs1465381568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4932797 (GRCh38)
19:4932809 (GRCh37)
Canonical SPDI:: NC_000019.10:4932796:G:A
Gene:: UHRF1 (Varview), MIR4747 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.4932797G>A, NC_000019.9:g.4932809G>A, NG_033256.2:g.34718G>A, NM_013282.5:c.665G>A, NM_013282.4:c.665G>A, NM_013282.3:c.665G>A, NM_001048201.3:c.626G>A, NM_001048201.2:c.626G>A, NM_001048201.1:c.626G>A, NM_001290050.2:c.626G>A, NM_001290050.1:c.626G>A, NM_001290052.2:c.626G>A, NM_001290052.1:c.626G>A, NM_001290051.2:c.626G>A, NM_001290051.1:c.626G>A, XM_011527942.2:c.626G>A, XM_011527942.1:c.626G>A, XM_047438708.1:c.665G>A, XM_047438709.1:c.626G>A, XM_047438707.1:c.626G>A, NP_037414.3:p.Arg222His, NP_001041666.1:p.Arg209His, NP_001276979.1:p.Arg209His, NP_001276981.1:p.Arg209His, NP_001276980.1:p.Arg209His, XP_011526244.1:p.Arg209His, XP_047294664.1:p.Arg222His, XP_047294665.1:p.Arg209His, XP_047294663.1:p.Arg209His

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