SNP Links for Protein (Select 151101367) - SNP

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Links from Protein

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Select item 14851135301.

rs1485113530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:32727958 (GRCh38)
20:31315765 (GRCh37)
Canonical SPDI:: NC_000020.11:32727957:G:A
Gene:: COMMD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.32727958G>A, NC_000020.10:g.31315765G>A, XM_005260299.5:c.176C>T, XM_005260299.4:c.176C>T, XM_005260299.3:c.176C>T, XM_005260299.2:c.176C>T, XM_005260299.1:c.176C>T, XM_005260300.5:c.173C>T, XM_005260300.4:c.173C>T, XM_005260300.3:c.173C>T, XM_005260300.2:c.173C>T, XM_005260300.1:c.173C>T, XM_011528604.4:c.176C>T, XM_011528604.3:c.176C>T, XM_011528604.2:c.176C>T, XM_011528604.1:c.176C>T, XM_017027685.3:c.173C>T, XM_017027685.2:c.173C>T, XM_017027685.1:c.173C>T, NM_053041.3:c.176C>T, NM_053041.2:c.176C>T, XM_017027686.3:c.176C>T, XM_017027686.2:c.176C>T, XM_017027686.1:c.176C>T, NM_001099339.2:c.173C>T, NM_001099339.1:c.173C>T, XM_047439932.1:c.173C>T, XP_005260356.1:p.Thr59Ile, XP_005260357.1:p.Thr58Ile, XP_011526906.1:p.Thr59Ile, XP_016883174.1:p.Thr58Ile, NP_444269.2:p.Thr59Ile, XP_016883175.1:p.Thr59Ile, NP_001092809.1:p.Thr58Ile, XP_047295888.1:p.Thr58Ile

Select item 14815591882.

rs1481559188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:32743385 (GRCh38)
20:31331191 (GRCh37)
Canonical SPDI:: NC_000020.11:32743384:G:C
Gene:: COMMD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000566/1 (Korea1K)
HGVS:: NC_000020.11:g.32743385G>C, NC_000020.10:g.31331191G>C, XM_005260299.5:c.7C>G, XM_005260299.4:c.7C>G, XM_005260299.3:c.7C>G, XM_005260299.2:c.7C>G, XM_005260299.1:c.7C>G, XM_005260300.5:c.7C>G, XM_005260300.4:c.7C>G, XM_005260300.3:c.7C>G, XM_005260300.2:c.7C>G, XM_005260300.1:c.7C>G, XM_011528604.4:c.7C>G, XM_011528604.3:c.7C>G, XM_011528604.2:c.7C>G, XM_011528604.1:c.7C>G, XM_017027685.3:c.7C>G, XM_017027685.2:c.7C>G, XM_017027685.1:c.7C>G, NM_053041.3:c.7C>G, NM_053041.2:c.7C>G, XM_017027686.3:c.7C>G, XM_017027686.2:c.7C>G, XM_017027686.1:c.7C>G, NM_001099339.2:c.7C>G, NM_001099339.1:c.7C>G, XM_047439932.1:c.7C>G, XP_005260356.1:p.Arg3Gly, XP_005260357.1:p.Arg3Gly, XP_011526906.1:p.Arg3Gly, XP_016883174.1:p.Arg3Gly, NP_444269.2:p.Arg3Gly, XP_016883175.1:p.Arg3Gly, NP_001092809.1:p.Arg3Gly, XP_047295888.1:p.Arg3Gly

Select item 14789551343.

rs1478955134 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGACTCT>- [Show Flanks]
Chromosome:: 20:32706741 (GRCh38)
20:31294543 (GRCh37)
Canonical SPDI:: NC_000020.11:32706739:TGAGACTCT:T
Gene:: COMMD7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.32706741_32706748del, NC_000020.10:g.31294543_31294550del, XM_005260299.5:c.255_262del, XM_005260299.4:c.255_262del, XM_005260299.3:c.255_262del, XM_005260299.2:c.255_262del, XM_005260299.1:c.255_262del, XM_005260300.5:c.252_259del, XM_005260300.4:c.252_259del, XM_005260300.3:c.252_259del, XM_005260300.2:c.252_259del, XM_005260300.1:c.252_259del, XM_011528604.4:c.255_262del, XM_011528604.3:c.255_262del, XM_011528604.2:c.255_262del, XM_011528604.1:c.255_262del, XM_017027685.3:c.252_259del, XM_017027685.2:c.252_259del, XM_017027685.1:c.252_259del, NM_053041.3:c.255_262del, NM_053041.2:c.255_262del, XM_017027686.3:c.255_262del, XM_017027686.2:c.255_262del, XM_017027686.1:c.255_262del, NM_001099339.2:c.252_259del, NM_001099339.1:c.252_259del, XM_047439932.1:c.252_259del, XP_005260356.1:p.Lys85fs, XP_005260357.1:p.Lys84fs, XP_011526906.1:p.Lys85fs, XP_016883174.1:p.Lys84fs, NP_444269.2:p.Lys85fs, XP_016883175.1:p.Lys85fs, NP_001092809.1:p.Lys84fs, XP_047295888.1:p.Lys84fs

Select item 14683370924.

rs1468337092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:32743348 (GRCh38)
20:31331154 (GRCh37)
Canonical SPDI:: NC_000020.11:32743347:A:G
Gene:: COMMD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.32743348A>G, NC_000020.10:g.31331154A>G, XM_005260299.5:c.44T>C, XM_005260299.4:c.44T>C, XM_005260299.3:c.44T>C, XM_005260299.2:c.44T>C, XM_005260299.1:c.44T>C, XM_005260300.5:c.44T>C, XM_005260300.4:c.44T>C, XM_005260300.3:c.44T>C, XM_005260300.2:c.44T>C, XM_005260300.1:c.44T>C, XM_011528604.4:c.44T>C, XM_011528604.3:c.44T>C, XM_011528604.2:c.44T>C, XM_011528604.1:c.44T>C, XM_017027685.3:c.44T>C, XM_017027685.2:c.44T>C, XM_017027685.1:c.44T>C, NM_053041.3:c.44T>C, NM_053041.2:c.44T>C, XM_017027686.3:c.44T>C, XM_017027686.2:c.44T>C, XM_017027686.1:c.44T>C, NM_001099339.2:c.44T>C, NM_001099339.1:c.44T>C, XM_047439932.1:c.44T>C, XP_005260356.1:p.Val15Ala, XP_005260357.1:p.Val15Ala, XP_011526906.1:p.Val15Ala, XP_016883174.1:p.Val15Ala, NP_444269.2:p.Val15Ala, XP_016883175.1:p.Val15Ala, NP_001092809.1:p.Val15Ala, XP_047295888.1:p.Val15Ala

Select item 14660240765.

rs1466024076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:32727961 (GRCh38)
20:31315768 (GRCh37)
Canonical SPDI:: NC_000020.11:32727960:G:C,NC_000020.11:32727960:G:T
Gene:: COMMD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.32727961G>C, NC_000020.11:g.32727961G>T, NC_000020.10:g.31315768G>C, NC_000020.10:g.31315768G>T, XM_005260299.5:c.173C>G, XM_005260299.5:c.173C>A, XM_005260299.4:c.173C>G, XM_005260299.4:c.173C>A, XM_005260299.3:c.173C>G, XM_005260299.3:c.173C>A, XM_005260299.2:c.173C>G, XM_005260299.2:c.173C>A, XM_005260299.1:c.173C>G, XM_005260299.1:c.173C>A, XM_005260300.5:c.170C>G, XM_005260300.5:c.170C>A, XM_005260300.4:c.170C>G, XM_005260300.4:c.170C>A, XM_005260300.3:c.170C>G, XM_005260300.3:c.170C>A, XM_005260300.2:c.170C>G, XM_005260300.2:c.170C>A, XM_005260300.1:c.170C>G, XM_005260300.1:c.170C>A, XM_011528604.4:c.173C>G, XM_011528604.4:c.173C>A, XM_011528604.3:c.173C>G, XM_011528604.3:c.173C>A, XM_011528604.2:c.173C>G, XM_011528604.2:c.173C>A, XM_011528604.1:c.173C>G, XM_011528604.1:c.173C>A, XM_017027685.3:c.170C>G, XM_017027685.3:c.170C>A, XM_017027685.2:c.170C>G, XM_017027685.2:c.170C>A, XM_017027685.1:c.170C>G, XM_017027685.1:c.170C>A, NM_053041.3:c.173C>G, NM_053041.3:c.173C>A, NM_053041.2:c.173C>G, NM_053041.2:c.173C>A, XM_017027686.3:c.173C>G, XM_017027686.3:c.173C>A, XM_017027686.2:c.173C>G, XM_017027686.2:c.173C>A, XM_017027686.1:c.173C>G, XM_017027686.1:c.173C>A, NM_001099339.2:c.170C>G, NM_001099339.2:c.170C>A, NM_001099339.1:c.170C>G, NM_001099339.1:c.170C>A, XM_047439932.1:c.170C>G, XM_047439932.1:c.170C>A, XP_005260356.1:p.Ala58Gly, XP_005260356.1:p.Ala58Asp, XP_005260357.1:p.Ala57Gly, XP_005260357.1:p.Ala57Asp, XP_011526906.1:p.Ala58Gly, XP_011526906.1:p.Ala58Asp, XP_016883174.1:p.Ala57Gly, XP_016883174.1:p.Ala57Asp, NP_444269.2:p.Ala58Gly, NP_444269.2:p.Ala58Asp, XP_016883175.1:p.Ala58Gly, XP_016883175.1:p.Ala58Asp, NP_001092809.1:p.Ala57Gly, NP_001092809.1:p.Ala57Asp, XP_047295888.1:p.Ala57Gly, XP_047295888.1:p.Ala57Asp

Select item 14656514956.

rs1465651495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:32704842 (GRCh38)
20:31292644 (GRCh37)
Canonical SPDI:: NC_000020.11:32704841:C:G
Gene:: COMMD7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.32704842C>G, NC_000020.10:g.31292644C>G, XM_005260299.5:c.399G>C, XM_005260299.4:c.399G>C, XM_005260299.3:c.399G>C, XM_005260299.2:c.399G>C, XM_005260299.1:c.399G>C, XM_005260300.5:c.396G>C, XM_005260300.4:c.396G>C, XM_005260300.3:c.396G>C, XM_005260300.2:c.396G>C, XM_005260300.1:c.396G>C, XM_011528604.4:c.399G>C, XM_011528604.3:c.399G>C, XM_011528604.2:c.399G>C, XM_011528604.1:c.399G>C, XM_017027685.3:c.396G>C, XM_017027685.2:c.396G>C, XM_017027685.1:c.396G>C, NM_053041.3:c.399G>C, NM_053041.2:c.399G>C, NM_001099339.2:c.396G>C, NM_001099339.1:c.396G>C, XP_005260356.1:p.Gln133His, XP_005260357.1:p.Gln132His, XP_011526906.1:p.Gln133His, XP_016883174.1:p.Gln132His, NP_444269.2:p.Gln133His, NP_001092809.1:p.Gln132His

Select item 14644803457.

rs1464480345 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 20:32703446 (GRCh38)
20:31291248 (GRCh37)
Canonical SPDI:: NC_000020.11:32703445:GG:G
Gene:: COMMD7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,frameshift_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.32703447del, NC_000020.10:g.31291249del, XM_011528604.4:c.*430del, XM_011528604.3:c.*430del, XM_011528604.2:c.*430del, XM_017027685.3:c.*430del, XM_017027685.2:c.*430del, XM_017027685.1:c.*430del, NM_053041.3:c.539del, NM_053041.2:c.539del, XM_017027686.3:c.398del, XM_017027686.2:c.398del, XM_017027686.1:c.398del, NM_001099339.2:c.536del, NM_001099339.1:c.536del, XM_047439932.1:c.395del, NP_444269.2:p.Pro180fs, XP_016883175.1:p.Pro133fs, NP_001092809.1:p.Pro179fs, XP_047295888.1:p.Pro132fs

Select item 14634876938.

rs1463487693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:32704817 (GRCh38)
20:31292619 (GRCh37)
Canonical SPDI:: NC_000020.11:32704816:C:T
Gene:: COMMD7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.32704817C>T, NC_000020.10:g.31292619C>T, XM_005260299.5:c.424G>A, XM_005260299.4:c.424G>A, XM_005260299.3:c.424G>A, XM_005260299.2:c.424G>A, XM_005260299.1:c.424G>A, XM_005260300.5:c.421G>A, XM_005260300.4:c.421G>A, XM_005260300.3:c.421G>A, XM_005260300.2:c.421G>A, XM_005260300.1:c.421G>A, XM_011528604.4:c.424G>A, XM_011528604.3:c.424G>A, XM_011528604.2:c.424G>A, XM_011528604.1:c.424G>A, XM_017027685.3:c.421G>A, XM_017027685.2:c.421G>A, XM_017027685.1:c.421G>A, NM_053041.3:c.424G>A, NM_053041.2:c.424G>A, NM_001099339.2:c.421G>A, NM_001099339.1:c.421G>A, XP_005260356.1:p.Gly142Arg, XP_005260357.1:p.Gly141Arg, XP_011526906.1:p.Gly142Arg, XP_016883174.1:p.Gly141Arg, NP_444269.2:p.Gly142Arg, NP_001092809.1:p.Gly141Arg

Select item 14631189329.

rs1463118932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:32706753 (GRCh38)
20:31294555 (GRCh37)
Canonical SPDI:: NC_000020.11:32706752:C:G
Gene:: COMMD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.32706753C>G, NC_000020.10:g.31294555C>G, XM_005260299.5:c.249G>C, XM_005260299.4:c.249G>C, XM_005260299.3:c.249G>C, XM_005260299.2:c.249G>C, XM_005260299.1:c.249G>C, XM_005260300.5:c.246G>C, XM_005260300.4:c.246G>C, XM_005260300.3:c.246G>C, XM_005260300.2:c.246G>C, XM_005260300.1:c.246G>C, XM_011528604.4:c.249G>C, XM_011528604.3:c.249G>C, XM_011528604.2:c.249G>C, XM_011528604.1:c.249G>C, XM_017027685.3:c.246G>C, XM_017027685.2:c.246G>C, XM_017027685.1:c.246G>C, NM_053041.3:c.249G>C, NM_053041.2:c.249G>C, XM_017027686.3:c.249G>C, XM_017027686.2:c.249G>C, XM_017027686.1:c.249G>C, NM_001099339.2:c.246G>C, NM_001099339.1:c.246G>C, XM_047439932.1:c.246G>C, XP_005260356.1:p.Leu83Phe, XP_005260357.1:p.Leu82Phe, XP_011526906.1:p.Leu83Phe, XP_016883174.1:p.Leu82Phe, NP_444269.2:p.Leu83Phe, XP_016883175.1:p.Leu83Phe, NP_001092809.1:p.Leu82Phe, XP_047295888.1:p.Leu82Phe

Select item 146078006910.

rs1460780069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:32743329 (GRCh38)
20:31331135 (GRCh37)
Canonical SPDI:: NC_000020.11:32743328:C:T
Gene:: COMMD7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000020.11:g.32743329C>T, NC_000020.10:g.31331135C>T, XM_005260299.5:c.63G>A, XM_005260299.4:c.63G>A, XM_005260299.3:c.63G>A, XM_005260299.2:c.63G>A, XM_005260299.1:c.63G>A, XM_005260300.5:c.63G>A, XM_005260300.4:c.63G>A, XM_005260300.3:c.63G>A, XM_005260300.2:c.63G>A, XM_005260300.1:c.63G>A, XM_011528604.4:c.63G>A, XM_011528604.3:c.63G>A, XM_011528604.2:c.63G>A, XM_011528604.1:c.63G>A, XM_017027685.3:c.63G>A, XM_017027685.2:c.63G>A, XM_017027685.1:c.63G>A, NM_053041.3:c.63G>A, NM_053041.2:c.63G>A, XM_017027686.3:c.63G>A, XM_017027686.2:c.63G>A, XM_017027686.1:c.63G>A, NM_001099339.2:c.63G>A, NM_001099339.1:c.63G>A, XM_047439932.1:c.63G>A

Select item 145823786511.

rs1458237865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:32727943 (GRCh38)
20:31315750 (GRCh37)
Canonical SPDI:: NC_000020.11:32727942:C:T
Gene:: COMMD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.32727943C>T, NC_000020.10:g.31315750C>T, XM_005260299.5:c.191G>A, XM_005260299.4:c.191G>A, XM_005260299.3:c.191G>A, XM_005260299.2:c.191G>A, XM_005260299.1:c.191G>A, XM_005260300.5:c.188G>A, XM_005260300.4:c.188G>A, XM_005260300.3:c.188G>A, XM_005260300.2:c.188G>A, XM_005260300.1:c.188G>A, XM_011528604.4:c.191G>A, XM_011528604.3:c.191G>A, XM_011528604.2:c.191G>A, XM_011528604.1:c.191G>A, XM_017027685.3:c.188G>A, XM_017027685.2:c.188G>A, XM_017027685.1:c.188G>A, NM_053041.3:c.191G>A, NM_053041.2:c.191G>A, XM_017027686.3:c.191G>A, XM_017027686.2:c.191G>A, XM_017027686.1:c.191G>A, NM_001099339.2:c.188G>A, NM_001099339.1:c.188G>A, XM_047439932.1:c.188G>A, XP_005260356.1:p.Ser64Asn, XP_005260357.1:p.Ser63Asn, XP_011526906.1:p.Ser64Asn, XP_016883174.1:p.Ser63Asn, NP_444269.2:p.Ser64Asn, XP_016883175.1:p.Ser64Asn, NP_001092809.1:p.Ser63Asn, XP_047295888.1:p.Ser63Asn

Select item 145522054012.

rs1455220540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:32704476 (GRCh38)
20:31292278 (GRCh37)
Canonical SPDI:: NC_000020.11:32704475:G:A
Gene:: COMMD7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
HGVS:: NC_000020.11:g.32704476G>A, NC_000020.10:g.31292278G>A, XM_005260299.5:c.441C>T, XM_005260299.4:c.441C>T, XM_005260299.3:c.441C>T, XM_005260299.2:c.441C>T, XM_005260299.1:c.441C>T, XM_005260300.5:c.438C>T, XM_005260300.4:c.438C>T, XM_005260300.3:c.438C>T, XM_005260300.2:c.438C>T, XM_005260300.1:c.438C>T, XM_011528604.4:c.441C>T, XM_011528604.3:c.441C>T, XM_011528604.2:c.441C>T, XM_011528604.1:c.441C>T, XM_017027685.3:c.438C>T, XM_017027685.2:c.438C>T, XM_017027685.1:c.438C>T, NM_053041.3:c.441C>T, NM_053041.2:c.441C>T, NM_001099339.2:c.438C>T, NM_001099339.1:c.438C>T

Select item 145320365413.

rs1453203654 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTAG>- [Show Flanks]
Chromosome:: 20:32728103 (GRCh38)
20:31315910 (GRCh37)
Canonical SPDI:: NC_000020.11:32728100:AGTTAG:AG
Gene:: COMMD7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AG=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.32728103_32728106del, NC_000020.10:g.31315910_31315913del, XM_005260299.5:c.123_126del, XM_005260299.4:c.123_126del, XM_005260299.3:c.123_126del, XM_005260299.2:c.123_126del, XM_005260299.1:c.123_126del, XM_005260300.5:c.120_123del, XM_005260300.4:c.120_123del, XM_005260300.3:c.120_123del, XM_005260300.2:c.120_123del, XM_005260300.1:c.120_123del, XM_011528604.4:c.123_126del, XM_011528604.3:c.123_126del, XM_011528604.2:c.123_126del, XM_011528604.1:c.123_126del, XM_017027685.3:c.120_123del, XM_017027685.2:c.120_123del, XM_017027685.1:c.120_123del, NM_053041.3:c.123_126del, NM_053041.2:c.123_126del, XM_017027686.3:c.123_126del, XM_017027686.2:c.123_126del, XM_017027686.1:c.123_126del, NM_001099339.2:c.120_123del, NM_001099339.1:c.120_123del, XM_047439932.1:c.120_123del, XP_005260356.1:p.Thr42fs, XP_005260357.1:p.Thr41fs, XP_011526906.1:p.Thr42fs, XP_016883174.1:p.Thr41fs, NP_444269.2:p.Thr42fs, XP_016883175.1:p.Thr42fs, NP_001092809.1:p.Thr41fs, XP_047295888.1:p.Thr41fs

Select item 145232679514.

rs1452326795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:32728094 (GRCh38)
20:31315901 (GRCh37)
Canonical SPDI:: NC_000020.11:32728093:T:C
Gene:: COMMD7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.32728094T>C, NC_000020.10:g.31315901T>C, XM_005260299.5:c.133A>G, XM_005260299.4:c.133A>G, XM_005260299.3:c.133A>G, XM_005260299.2:c.133A>G, XM_005260299.1:c.133A>G, XM_005260300.5:c.130A>G, XM_005260300.4:c.130A>G, XM_005260300.3:c.130A>G, XM_005260300.2:c.130A>G, XM_005260300.1:c.130A>G, XM_011528604.4:c.133A>G, XM_011528604.3:c.133A>G, XM_011528604.2:c.133A>G, XM_011528604.1:c.133A>G, XM_017027685.3:c.130A>G, XM_017027685.2:c.130A>G, XM_017027685.1:c.130A>G, NM_053041.3:c.133A>G, NM_053041.2:c.133A>G, XM_017027686.3:c.133A>G, XM_017027686.2:c.133A>G, XM_017027686.1:c.133A>G, NM_001099339.2:c.130A>G, NM_001099339.1:c.130A>G, XM_047439932.1:c.130A>G, XP_005260356.1:p.Lys45Glu, XP_005260357.1:p.Lys44Glu, XP_011526906.1:p.Lys45Glu, XP_016883174.1:p.Lys44Glu, NP_444269.2:p.Lys45Glu, XP_016883175.1:p.Lys45Glu, NP_001092809.1:p.Lys44Glu, XP_047295888.1:p.Lys44Glu

Select item 144356150815.

rs1443561508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:32728128 (GRCh38)
20:31315935 (GRCh37)
Canonical SPDI:: NC_000020.11:32728127:C:T
Gene:: COMMD7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.32728128C>T, NC_000020.10:g.31315935C>T, XM_005260299.5:c.99G>A, XM_005260299.4:c.99G>A, XM_005260299.3:c.99G>A, XM_005260299.2:c.99G>A, XM_005260299.1:c.99G>A, XM_005260300.5:c.96G>A, XM_005260300.4:c.96G>A, XM_005260300.3:c.96G>A, XM_005260300.2:c.96G>A, XM_005260300.1:c.96G>A, XM_011528604.4:c.99G>A, XM_011528604.3:c.99G>A, XM_011528604.2:c.99G>A, XM_011528604.1:c.99G>A, XM_017027685.3:c.96G>A, XM_017027685.2:c.96G>A, XM_017027685.1:c.96G>A, NM_053041.3:c.99G>A, NM_053041.2:c.99G>A, XM_017027686.3:c.99G>A, XM_017027686.2:c.99G>A, XM_017027686.1:c.99G>A, NM_001099339.2:c.96G>A, NM_001099339.1:c.96G>A, XM_047439932.1:c.96G>A

Select item 142802570916.

rs1428025709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:32706583 (GRCh38)
20:31294385 (GRCh37)
Canonical SPDI:: NC_000020.11:32706582:C:G
Gene:: COMMD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.32706583C>G, NC_000020.10:g.31294385C>G, XM_005260299.5:c.336G>C, XM_005260299.4:c.336G>C, XM_005260299.3:c.336G>C, XM_005260299.2:c.336G>C, XM_005260299.1:c.336G>C, XM_005260300.5:c.333G>C, XM_005260300.4:c.333G>C, XM_005260300.3:c.333G>C, XM_005260300.2:c.333G>C, XM_005260300.1:c.333G>C, XM_011528604.4:c.336G>C, XM_011528604.3:c.336G>C, XM_011528604.2:c.336G>C, XM_011528604.1:c.336G>C, XM_017027685.3:c.333G>C, XM_017027685.2:c.333G>C, XM_017027685.1:c.333G>C, NM_053041.3:c.336G>C, NM_053041.2:c.336G>C, XM_017027686.3:c.336G>C, XM_017027686.2:c.336G>C, XM_017027686.1:c.336G>C, NM_001099339.2:c.333G>C, NM_001099339.1:c.333G>C, XM_047439932.1:c.333G>C, XP_005260356.1:p.Lys112Asn, XP_005260357.1:p.Lys111Asn, XP_011526906.1:p.Lys112Asn, XP_016883174.1:p.Lys111Asn, NP_444269.2:p.Lys112Asn, XP_016883175.1:p.Lys112Asn, NP_001092809.1:p.Lys111Asn, XP_047295888.1:p.Lys111Asn

Select item 142721425117.

rs1427214251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:32704890 (GRCh38)
20:31292692 (GRCh37)
Canonical SPDI:: NC_000020.11:32704889:A:G
Gene:: COMMD7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.32704890A>G, NC_000020.10:g.31292692A>G, XM_005260299.5:c.351T>C, XM_005260299.4:c.351T>C, XM_005260299.3:c.351T>C, XM_005260299.2:c.351T>C, XM_005260299.1:c.351T>C, XM_005260300.5:c.348T>C, XM_005260300.4:c.348T>C, XM_005260300.3:c.348T>C, XM_005260300.2:c.348T>C, XM_005260300.1:c.348T>C, XM_011528604.4:c.351T>C, XM_011528604.3:c.351T>C, XM_011528604.2:c.351T>C, XM_011528604.1:c.351T>C, XM_017027685.3:c.348T>C, XM_017027685.2:c.348T>C, XM_017027685.1:c.348T>C, NM_053041.3:c.351T>C, NM_053041.2:c.351T>C, NM_001099339.2:c.348T>C, NM_001099339.1:c.348T>C

Select item 142356864818.

rs1423568648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:32704884 (GRCh38)
20:31292686 (GRCh37)
Canonical SPDI:: NC_000020.11:32704883:G:C
Gene:: COMMD7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.32704884G>C, NC_000020.10:g.31292686G>C, XM_005260299.5:c.357C>G, XM_005260299.4:c.357C>G, XM_005260299.3:c.357C>G, XM_005260299.2:c.357C>G, XM_005260299.1:c.357C>G, XM_005260300.5:c.354C>G, XM_005260300.4:c.354C>G, XM_005260300.3:c.354C>G, XM_005260300.2:c.354C>G, XM_005260300.1:c.354C>G, XM_011528604.4:c.357C>G, XM_011528604.3:c.357C>G, XM_011528604.2:c.357C>G, XM_011528604.1:c.357C>G, XM_017027685.3:c.354C>G, XM_017027685.2:c.354C>G, XM_017027685.1:c.354C>G, NM_053041.3:c.357C>G, NM_053041.2:c.357C>G, NM_001099339.2:c.354C>G, NM_001099339.1:c.354C>G

Select item 142145560119.

rs1421455601 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTAAC>- [Show Flanks]
Chromosome:: 20:32704055 (GRCh38)
20:31291857 (GRCh37)
Canonical SPDI:: NC_000020.11:32704053:CTTAAC:C
Gene:: COMMD7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.32704055_32704059del, NC_000020.10:g.31291857_31291861del, XM_005260299.5:c.491_495del, XM_005260299.4:c.491_495del, XM_005260299.3:c.491_495del, XM_005260299.2:c.491_495del, XM_005260299.1:c.491_495del, XM_005260300.5:c.488_492del, XM_005260300.4:c.488_492del, XM_005260300.3:c.488_492del, XM_005260300.2:c.488_492del, XM_005260300.1:c.488_492del, XM_011528604.4:c.491_495del, XM_011528604.3:c.491_495del, XM_011528604.2:c.491_495del, XM_011528604.1:c.491_495del, XM_017027685.3:c.488_492del, XM_017027685.2:c.488_492del, XM_017027685.1:c.488_492del, NM_053041.3:c.491_495del, NM_053041.2:c.491_495del, XM_017027686.3:c.350_354del, XM_017027686.2:c.350_354del, XM_017027686.1:c.350_354del, NM_001099339.2:c.488_492del, NM_001099339.1:c.488_492del, XM_047439932.1:c.347_351del, XP_005260356.1:p.Val164fs, XP_005260357.1:p.Val163fs, XP_011526906.1:p.Val164fs, XP_016883174.1:p.Val163fs, NP_444269.2:p.Val164fs, XP_016883175.1:p.Val117fs, NP_001092809.1:p.Val163fs, XP_047295888.1:p.Val116fs

Select item 142091727120.

rs1420917271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:32703399 (GRCh38)
20:31291201 (GRCh37)
Canonical SPDI:: NC_000020.11:32703398:T:A,NC_000020.11:32703398:T:C
Gene:: COMMD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.32703399T>A, NC_000020.11:g.32703399T>C, NC_000020.10:g.31291201T>A, NC_000020.10:g.31291201T>C, XM_011528604.4:c.*477A>T, XM_011528604.4:c.*477A>G, XM_011528604.3:c.*477A>T, XM_011528604.3:c.*477A>G, XM_011528604.2:c.*477A>T, XM_011528604.2:c.*477A>G, XM_017027685.3:c.*477A>T, XM_017027685.3:c.*477A>G, XM_017027685.2:c.*477A>T, XM_017027685.2:c.*477A>G, XM_017027685.1:c.*477A>T, XM_017027685.1:c.*477A>G, NM_053041.3:c.586A>T, NM_053041.3:c.586A>G, NM_053041.2:c.586A>T, NM_053041.2:c.586A>G, XM_017027686.3:c.445A>T, XM_017027686.3:c.445A>G, XM_017027686.2:c.445A>T, XM_017027686.2:c.445A>G, XM_017027686.1:c.445A>T, XM_017027686.1:c.445A>G, NM_001099339.2:c.583A>T, NM_001099339.2:c.583A>G, NM_001099339.1:c.583A>T, NM_001099339.1:c.583A>G, XM_047439932.1:c.442A>T, XM_047439932.1:c.442A>G, NP_444269.2:p.Met196Leu, NP_444269.2:p.Met196Val, XP_016883175.1:p.Met149Leu, XP_016883175.1:p.Met149Val, NP_001092809.1:p.Met195Leu, NP_001092809.1:p.Met195Val, XP_047295888.1:p.Met148Leu, XP_047295888.1:p.Met148Val

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