SNP Links for Protein (Select 315467844) - SNP

Links from Protein

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Select item 14854290811.

rs1485429081 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161175069 (GRCh38)
1:161144859 (GRCh37)
Canonical SPDI:: NC_000001.11:161175068:A:G
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.161175069A>G, NC_000001.10:g.161144859A>G, NG_012877.2:g.13679A>G, NG_011480.1:g.7456T>C, NM_003779.4:c.413T>C, NM_003779.3:c.413T>C, NM_001199873.1:c.413T>C, NM_001199874.1:c.413T>C, XM_005245566.3:c.413T>C, XM_005245566.2:c.413T>C, XM_005245566.1:c.413T>C, XM_017002714.3:c.413T>C, XM_017002714.2:c.413T>C, XM_017002714.1:c.413T>C, XM_011510093.3:c.413T>C, XM_011510093.2:c.413T>C, XM_011510093.1:c.413T>C, XM_024450540.2:c.413T>C, XM_024450540.1:c.413T>C, XM_024450541.2:c.413T>C, XM_024450541.1:c.413T>C, XM_047433402.1:c.413T>C, XM_047433401.1:c.413T>C, XM_047433399.1:c.413T>C, NP_003770.1:p.Leu138Pro, NP_001186802.1:p.Leu138Pro, NP_001186803.1:p.Leu138Pro, XP_005245623.1:p.Leu138Pro, XP_016858203.1:p.Leu138Pro, XP_011508395.1:p.Leu138Pro, XP_024306308.1:p.Leu138Pro, XP_024306309.1:p.Leu138Pro, XP_047289358.1:p.Leu138Pro, XP_047289357.1:p.Leu138Pro, XP_047289355.1:p.Leu138Pro

Select item 14853266422.

rs1485326642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:161175200 (GRCh38)
1:161144990 (GRCh37)
Canonical SPDI:: NC_000001.11:161175199:T:A
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161175200T>A, NC_000001.10:g.161144990T>A, NG_012877.2:g.13810T>A, NG_011480.1:g.7325A>T, NM_003779.4:c.282A>T, NM_003779.3:c.282A>T, NM_001199873.1:c.282A>T, NM_001199874.1:c.282A>T, XM_005245566.3:c.282A>T, XM_005245566.2:c.282A>T, XM_005245566.1:c.282A>T, XM_017002714.3:c.282A>T, XM_017002714.2:c.282A>T, XM_017002714.1:c.282A>T, XM_011510093.3:c.282A>T, XM_011510093.2:c.282A>T, XM_011510093.1:c.282A>T, XM_024450540.2:c.282A>T, XM_024450540.1:c.282A>T, XM_024450541.2:c.282A>T, XM_024450541.1:c.282A>T, XM_047433402.1:c.282A>T, XM_047433401.1:c.282A>T, XM_047433399.1:c.282A>T

Select item 14803776343.

rs1480377634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161173911 (GRCh38)
1:161143701 (GRCh37)
Canonical SPDI:: NC_000001.11:161173910:C:T
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161173911C>T, NC_000001.10:g.161143701C>T, NG_012877.2:g.12521C>T, NG_011480.1:g.8614G>A, NM_003779.4:c.628G>A, NM_003779.3:c.628G>A, NM_001199873.1:c.628G>A, NM_001199874.1:c.628G>A, XM_005245566.3:c.628G>A, XM_005245566.2:c.628G>A, XM_005245566.1:c.628G>A, XM_017002714.3:c.628G>A, XM_017002714.2:c.628G>A, XM_017002714.1:c.628G>A, XM_011510093.3:c.628G>A, XM_011510093.2:c.628G>A, XM_011510093.1:c.628G>A, XM_024450540.2:c.628G>A, XM_024450540.1:c.628G>A, XM_024450541.2:c.628G>A, XM_024450541.1:c.628G>A, XM_047433402.1:c.628G>A, XM_047433401.1:c.628G>A, XM_047433399.1:c.628G>A, NP_003770.1:p.Asp210Asn, NP_001186802.1:p.Asp210Asn, NP_001186803.1:p.Asp210Asn, XP_005245623.1:p.Asp210Asn, XP_016858203.1:p.Asp210Asn, XP_011508395.1:p.Asp210Asn, XP_024306308.1:p.Asp210Asn, XP_024306309.1:p.Asp210Asn, XP_047289358.1:p.Asp210Asn, XP_047289357.1:p.Asp210Asn, XP_047289355.1:p.Asp210Asn

Select item 14764287874.

rs1476428787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:161172292 (GRCh38)
1:161142082 (GRCh37)
Canonical SPDI:: NC_000001.11:161172291:T:A,NC_000001.11:161172291:T:C
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.161172292T>A, NC_000001.11:g.161172292T>C, NC_000001.10:g.161142082T>A, NC_000001.10:g.161142082T>C, NG_012877.2:g.10902T>A, NG_012877.2:g.10902T>C, NG_011480.1:g.10233A>T, NG_011480.1:g.10233A>G, NM_003779.4:c.843A>T, NM_003779.4:c.843A>G, NM_003779.3:c.843A>T, NM_003779.3:c.843A>G, NM_001199873.1:c.843A>T, NM_001199873.1:c.843A>G, NM_001199874.1:c.843A>T, NM_001199874.1:c.843A>G, XM_005245566.3:c.843A>T, XM_005245566.3:c.843A>G, XM_005245566.2:c.843A>T, XM_005245566.2:c.843A>G, XM_005245566.1:c.843A>T, XM_005245566.1:c.843A>G, XM_017002714.3:c.843A>T, XM_017002714.3:c.843A>G, XM_017002714.2:c.843A>T, XM_017002714.2:c.843A>G, XM_017002714.1:c.843A>T, XM_017002714.1:c.843A>G, XM_011510093.3:c.843A>T, XM_011510093.3:c.843A>G, XM_011510093.2:c.843A>T, XM_011510093.2:c.843A>G, XM_011510093.1:c.843A>T, XM_011510093.1:c.843A>G, XM_024450540.2:c.843A>T, XM_024450540.2:c.843A>G, XM_024450540.1:c.843A>T, XM_024450540.1:c.843A>G, XM_024450541.2:c.843A>T, XM_024450541.2:c.843A>G, XM_024450541.1:c.843A>T, XM_024450541.1:c.843A>G, XM_047433402.1:c.843A>T, XM_047433402.1:c.843A>G, XM_047433401.1:c.843A>T, XM_047433401.1:c.843A>G, XM_047433399.1:c.843A>T, XM_047433399.1:c.843A>G

Select item 14744238665.

rs1474423866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:161175984 (GRCh38)
1:161145774 (GRCh37)
Canonical SPDI:: NC_000001.11:161175983:A:C
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161175984A>C, NC_000001.10:g.161145774A>C, NG_012877.2:g.14594A>C, NG_011480.1:g.6541T>G, NM_003779.4:c.77T>G, NM_003779.3:c.77T>G, NM_001199873.1:c.77T>G, NM_001199874.1:c.77T>G, XM_005245566.3:c.77T>G, XM_005245566.2:c.77T>G, XM_005245566.1:c.77T>G, XM_017002714.3:c.77T>G, XM_017002714.2:c.77T>G, XM_017002714.1:c.77T>G, XM_011510093.3:c.77T>G, XM_011510093.2:c.77T>G, XM_011510093.1:c.77T>G, XM_024450540.2:c.77T>G, XM_024450540.1:c.77T>G, XM_024450541.2:c.77T>G, XM_024450541.1:c.77T>G, XM_047433402.1:c.77T>G, XM_047433401.1:c.77T>G, XM_047433399.1:c.77T>G, NP_003770.1:p.Leu26Arg, NP_001186802.1:p.Leu26Arg, NP_001186803.1:p.Leu26Arg, XP_005245623.1:p.Leu26Arg, XP_016858203.1:p.Leu26Arg, XP_011508395.1:p.Leu26Arg, XP_024306308.1:p.Leu26Arg, XP_024306309.1:p.Leu26Arg, XP_047289358.1:p.Leu26Arg, XP_047289357.1:p.Leu26Arg, XP_047289355.1:p.Leu26Arg

Select item 14710525376.

rs1471052537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:161173631 (GRCh38)
1:161143421 (GRCh37)
Canonical SPDI:: NC_000001.11:161173630:A:C
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.0104/19 (Korea1K)
HGVS:: NC_000001.11:g.161173631A>C, NC_000001.10:g.161143421A>C, NG_012877.2:g.12241A>C, NG_011480.1:g.8894T>G, NM_003779.4:c.777T>G, NM_003779.3:c.777T>G, NM_001199873.1:c.777T>G, NM_001199874.1:c.777T>G, XM_005245566.3:c.777T>G, XM_005245566.2:c.777T>G, XM_005245566.1:c.777T>G, XM_017002714.3:c.777T>G, XM_017002714.2:c.777T>G, XM_017002714.1:c.777T>G, XM_011510093.3:c.777T>G, XM_011510093.2:c.777T>G, XM_011510093.1:c.777T>G, XM_024450540.2:c.777T>G, XM_024450540.1:c.777T>G, XM_024450541.2:c.777T>G, XM_024450541.1:c.777T>G, XM_047433402.1:c.777T>G, XM_047433401.1:c.777T>G, XM_047433399.1:c.777T>G

Select item 14690906307.

rs1469090630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161171840 (GRCh38)
1:161141630 (GRCh37)
Canonical SPDI:: NC_000001.11:161171839:G:A
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161171840G>A, NC_000001.10:g.161141630G>A, NG_012877.2:g.10450G>A, NG_011480.1:g.10685C>T, NM_003779.4:c.1158C>T, NM_003779.3:c.1158C>T, NM_001199873.1:c.1158C>T, NM_001199874.1:c.1158C>T, XM_005245566.3:c.1158C>T, XM_005245566.2:c.1158C>T, XM_005245566.1:c.1158C>T, XM_017002714.3:c.*200C>T, XM_017002714.2:c.*200C>T, XM_017002714.1:c.*200C>T, XM_011510093.3:c.*200C>T, XM_011510093.2:c.*200C>T, XM_011510093.1:c.*200C>T, XM_024450540.2:c.1158C>T, XM_024450540.1:c.1158C>T, XM_024450541.2:c.1158C>T, XM_024450541.1:c.1158C>T, XM_047433402.1:c.*200C>T, XM_047433401.1:c.*200C>T, XM_047433399.1:c.1158C>T

Select item 14681751788.

rs1468175178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:161176021 (GRCh38)
1:161145811 (GRCh37)
Canonical SPDI:: NC_000001.11:161176020:G:C
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.161176021G>C, NC_000001.10:g.161145811G>C, NG_012877.2:g.14631G>C, NG_011480.1:g.6504C>G, NM_003779.4:c.40C>G, NM_003779.3:c.40C>G, NM_001199873.1:c.40C>G, NM_001199874.1:c.40C>G, XM_005245566.3:c.40C>G, XM_005245566.2:c.40C>G, XM_005245566.1:c.40C>G, XM_017002714.3:c.40C>G, XM_017002714.2:c.40C>G, XM_017002714.1:c.40C>G, XM_011510093.3:c.40C>G, XM_011510093.2:c.40C>G, XM_011510093.1:c.40C>G, XM_024450540.2:c.40C>G, XM_024450540.1:c.40C>G, XM_024450541.2:c.40C>G, XM_024450541.1:c.40C>G, XM_047433402.1:c.40C>G, XM_047433401.1:c.40C>G, XM_047433399.1:c.40C>G, NP_003770.1:p.Leu14Val, NP_001186802.1:p.Leu14Val, NP_001186803.1:p.Leu14Val, XP_005245623.1:p.Leu14Val, XP_016858203.1:p.Leu14Val, XP_011508395.1:p.Leu14Val, XP_024306308.1:p.Leu14Val, XP_024306309.1:p.Leu14Val, XP_047289358.1:p.Leu14Val, XP_047289357.1:p.Leu14Val, XP_047289355.1:p.Leu14Val

Select item 14657635949.

rs1465763594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:161171965 (GRCh38)
1:161141755 (GRCh37)
Canonical SPDI:: NC_000001.11:161171964:C:G
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161171965C>G, NC_000001.10:g.161141755C>G, NG_012877.2:g.10575C>G, NG_011480.1:g.10560G>C, NM_003779.4:c.1033G>C, NM_003779.3:c.1033G>C, NM_001199873.1:c.1033G>C, NM_001199874.1:c.1033G>C, XM_005245566.3:c.1033G>C, XM_005245566.2:c.1033G>C, XM_005245566.1:c.1033G>C, XM_017002714.3:c.*75G>C, XM_017002714.2:c.*75G>C, XM_017002714.1:c.*75G>C, XM_011510093.3:c.*75G>C, XM_011510093.2:c.*75G>C, XM_011510093.1:c.*75G>C, XM_024450540.2:c.1033G>C, XM_024450540.1:c.1033G>C, XM_024450541.2:c.1033G>C, XM_024450541.1:c.1033G>C, XM_047433402.1:c.*75G>C, XM_047433401.1:c.*75G>C, XM_047433399.1:c.1033G>C, NP_003770.1:p.Asp345His, NP_001186802.1:p.Asp345His, NP_001186803.1:p.Asp345His, XP_005245623.1:p.Asp345His, XP_024306308.1:p.Asp345His, XP_024306309.1:p.Asp345His, XP_047289355.1:p.Asp345His

Select item 146317630310.

rs1463176303 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:161175991 (GRCh38)
1:161145781 (GRCh37)
Canonical SPDI:: NC_000001.11:161175990:T:C
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161175991T>C, NC_000001.10:g.161145781T>C, NG_012877.2:g.14601T>C, NG_011480.1:g.6534A>G, NM_003779.4:c.70A>G, NM_003779.3:c.70A>G, NM_001199873.1:c.70A>G, NM_001199874.1:c.70A>G, XM_005245566.3:c.70A>G, XM_005245566.2:c.70A>G, XM_005245566.1:c.70A>G, XM_017002714.3:c.70A>G, XM_017002714.2:c.70A>G, XM_017002714.1:c.70A>G, XM_011510093.3:c.70A>G, XM_011510093.2:c.70A>G, XM_011510093.1:c.70A>G, XM_024450540.2:c.70A>G, XM_024450540.1:c.70A>G, XM_024450541.2:c.70A>G, XM_024450541.1:c.70A>G, XM_047433402.1:c.70A>G, XM_047433401.1:c.70A>G, XM_047433399.1:c.70A>G, NP_003770.1:p.Met24Val, NP_001186802.1:p.Met24Val, NP_001186803.1:p.Met24Val, XP_005245623.1:p.Met24Val, XP_016858203.1:p.Met24Val, XP_011508395.1:p.Met24Val, XP_024306308.1:p.Met24Val, XP_024306309.1:p.Met24Val, XP_047289358.1:p.Met24Val, XP_047289357.1:p.Met24Val, XP_047289355.1:p.Met24Val

Select item 145939766711.

rs1459397667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161172303 (GRCh38)
1:161142093 (GRCh37)
Canonical SPDI:: NC_000001.11:161172302:G:A
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.161172303G>A, NC_000001.10:g.161142093G>A, NG_012877.2:g.10913G>A, NG_011480.1:g.10222C>T, NM_003779.4:c.832C>T, NM_003779.3:c.832C>T, NM_001199873.1:c.832C>T, NM_001199874.1:c.832C>T, XM_005245566.3:c.832C>T, XM_005245566.2:c.832C>T, XM_005245566.1:c.832C>T, XM_017002714.3:c.832C>T, XM_017002714.2:c.832C>T, XM_017002714.1:c.832C>T, XM_011510093.3:c.832C>T, XM_011510093.2:c.832C>T, XM_011510093.1:c.832C>T, XM_024450540.2:c.832C>T, XM_024450540.1:c.832C>T, XM_024450541.2:c.832C>T, XM_024450541.1:c.832C>T, XM_047433402.1:c.832C>T, XM_047433401.1:c.832C>T, XM_047433399.1:c.832C>T, NP_003770.1:p.Arg278Trp, NP_001186802.1:p.Arg278Trp, NP_001186803.1:p.Arg278Trp, XP_005245623.1:p.Arg278Trp, XP_016858203.1:p.Arg278Trp, XP_011508395.1:p.Arg278Trp, XP_024306308.1:p.Arg278Trp, XP_024306309.1:p.Arg278Trp, XP_047289358.1:p.Arg278Trp, XP_047289357.1:p.Arg278Trp, XP_047289355.1:p.Arg278Trp

Select item 145545449512.

rs1455454495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:161172312 (GRCh38)
1:161142102 (GRCh37)
Canonical SPDI:: NC_000001.11:161172311:T:G
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161172312T>G, NC_000001.10:g.161142102T>G, NG_012877.2:g.10922T>G, NG_011480.1:g.10213A>C, NM_003779.4:c.823A>C, NM_003779.3:c.823A>C, NM_001199873.1:c.823A>C, NM_001199874.1:c.823A>C, XM_005245566.3:c.823A>C, XM_005245566.2:c.823A>C, XM_005245566.1:c.823A>C, XM_017002714.3:c.823A>C, XM_017002714.2:c.823A>C, XM_017002714.1:c.823A>C, XM_011510093.3:c.823A>C, XM_011510093.2:c.823A>C, XM_011510093.1:c.823A>C, XM_024450540.2:c.823A>C, XM_024450540.1:c.823A>C, XM_024450541.2:c.823A>C, XM_024450541.1:c.823A>C, XM_047433402.1:c.823A>C, XM_047433401.1:c.823A>C, XM_047433399.1:c.823A>C, NP_003770.1:p.Lys275Gln, NP_001186802.1:p.Lys275Gln, NP_001186803.1:p.Lys275Gln, XP_005245623.1:p.Lys275Gln, XP_016858203.1:p.Lys275Gln, XP_011508395.1:p.Lys275Gln, XP_024306308.1:p.Lys275Gln, XP_024306309.1:p.Lys275Gln, XP_047289358.1:p.Lys275Gln, XP_047289357.1:p.Lys275Gln, XP_047289355.1:p.Lys275Gln

Select item 145447371713.

rs1454473717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:161173727 (GRCh38)
1:161143517 (GRCh37)
Canonical SPDI:: NC_000001.11:161173726:G:C
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161173727G>C, NC_000001.10:g.161143517G>C, NG_012877.2:g.12337G>C, NG_011480.1:g.8798C>G, NM_003779.4:c.681C>G, NM_003779.3:c.681C>G, NM_001199873.1:c.681C>G, NM_001199874.1:c.681C>G, XM_005245566.3:c.681C>G, XM_005245566.2:c.681C>G, XM_005245566.1:c.681C>G, XM_017002714.3:c.681C>G, XM_017002714.2:c.681C>G, XM_017002714.1:c.681C>G, XM_011510093.3:c.681C>G, XM_011510093.2:c.681C>G, XM_011510093.1:c.681C>G, XM_024450540.2:c.681C>G, XM_024450540.1:c.681C>G, XM_024450541.2:c.681C>G, XM_024450541.1:c.681C>G, XM_047433402.1:c.681C>G, XM_047433401.1:c.681C>G, XM_047433399.1:c.681C>G, NP_003770.1:p.Ser227Arg, NP_001186802.1:p.Ser227Arg, NP_001186803.1:p.Ser227Arg, XP_005245623.1:p.Ser227Arg, XP_016858203.1:p.Ser227Arg, XP_011508395.1:p.Ser227Arg, XP_024306308.1:p.Ser227Arg, XP_024306309.1:p.Ser227Arg, XP_047289358.1:p.Ser227Arg, XP_047289357.1:p.Ser227Arg, XP_047289355.1:p.Ser227Arg

Select item 145446293814.

rs1454462938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161173968 (GRCh38)
1:161143758 (GRCh37)
Canonical SPDI:: NC_000001.11:161173967:G:A
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161173968G>A, NC_000001.10:g.161143758G>A, NG_012877.2:g.12578G>A, NG_011480.1:g.8557C>T, NM_003779.4:c.571C>T, NM_003779.3:c.571C>T, NM_001199873.1:c.571C>T, NM_001199874.1:c.571C>T, XM_005245566.3:c.571C>T, XM_005245566.2:c.571C>T, XM_005245566.1:c.571C>T, XM_017002714.3:c.571C>T, XM_017002714.2:c.571C>T, XM_017002714.1:c.571C>T, XM_011510093.3:c.571C>T, XM_011510093.2:c.571C>T, XM_011510093.1:c.571C>T, XM_024450540.2:c.571C>T, XM_024450540.1:c.571C>T, XM_024450541.2:c.571C>T, XM_024450541.1:c.571C>T, XM_047433402.1:c.571C>T, XM_047433401.1:c.571C>T, XM_047433399.1:c.571C>T

Select item 145285094815.

rs1452850948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161174001 (GRCh38)
1:161143791 (GRCh37)
Canonical SPDI:: NC_000001.11:161174000:G:A
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161174001G>A, NC_000001.10:g.161143791G>A, NG_012877.2:g.12611G>A, NG_011480.1:g.8524C>T, NM_003779.4:c.538C>T, NM_003779.3:c.538C>T, NM_001199873.1:c.538C>T, NM_001199874.1:c.538C>T, XM_005245566.3:c.538C>T, XM_005245566.2:c.538C>T, XM_005245566.1:c.538C>T, XM_017002714.3:c.538C>T, XM_017002714.2:c.538C>T, XM_017002714.1:c.538C>T, XM_011510093.3:c.538C>T, XM_011510093.2:c.538C>T, XM_011510093.1:c.538C>T, XM_024450540.2:c.538C>T, XM_024450540.1:c.538C>T, XM_024450541.2:c.538C>T, XM_024450541.1:c.538C>T, XM_047433402.1:c.538C>T, XM_047433401.1:c.538C>T, XM_047433399.1:c.538C>T, NP_003770.1:p.Arg180Ter, NP_001186802.1:p.Arg180Ter, NP_001186803.1:p.Arg180Ter, XP_005245623.1:p.Arg180Ter, XP_016858203.1:p.Arg180Ter, XP_011508395.1:p.Arg180Ter, XP_024306308.1:p.Arg180Ter, XP_024306309.1:p.Arg180Ter, XP_047289358.1:p.Arg180Ter, XP_047289357.1:p.Arg180Ter, XP_047289355.1:p.Arg180Ter

Select item 144983552216.

rs1449835522 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:161175133 (GRCh38)
1:161144923 (GRCh37)
Canonical SPDI:: NC_000001.11:161175132:C:
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161175133del, NC_000001.10:g.161144923del, NG_012877.2:g.13743del, NG_011480.1:g.7392del, NM_003779.4:c.349del, NM_003779.3:c.349del, NM_001199873.1:c.349del, NM_001199874.1:c.349del, XM_005245566.3:c.349del, XM_005245566.2:c.349del, XM_005245566.1:c.349del, XM_017002714.3:c.349del, XM_017002714.2:c.349del, XM_017002714.1:c.349del, XM_011510093.3:c.349del, XM_011510093.2:c.349del, XM_011510093.1:c.349del, XM_024450540.2:c.349del, XM_024450540.1:c.349del, XM_024450541.2:c.349del, XM_024450541.1:c.349del, XM_047433402.1:c.349del, XM_047433401.1:c.349del, XM_047433399.1:c.349del, NP_003770.1:p.Ala117fs, NP_001186802.1:p.Ala117fs, NP_001186803.1:p.Ala117fs, XP_005245623.1:p.Ala117fs, XP_016858203.1:p.Ala117fs, XP_011508395.1:p.Ala117fs, XP_024306308.1:p.Ala117fs, XP_024306309.1:p.Ala117fs, XP_047289358.1:p.Ala117fs, XP_047289357.1:p.Ala117fs, XP_047289355.1:p.Ala117fs

Select item 144855020617.

rs1448550206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161171831 (GRCh38)
1:161141621 (GRCh37)
Canonical SPDI:: NC_000001.11:161171830:G:A
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161171831G>A, NC_000001.10:g.161141621G>A, NG_012877.2:g.10441G>A, NG_011480.1:g.10694C>T, NM_003779.4:c.1167C>T, NM_003779.3:c.1167C>T, NM_001199873.1:c.1167C>T, NM_001199874.1:c.1167C>T, XM_005245566.3:c.1167C>T, XM_005245566.2:c.1167C>T, XM_005245566.1:c.1167C>T, XM_017002714.3:c.*209C>T, XM_017002714.2:c.*209C>T, XM_017002714.1:c.*209C>T, XM_011510093.3:c.*209C>T, XM_011510093.2:c.*209C>T, XM_011510093.1:c.*209C>T, XM_024450540.2:c.1167C>T, XM_024450540.1:c.1167C>T, XM_024450541.2:c.1167C>T, XM_024450541.1:c.1167C>T, XM_047433402.1:c.*209C>T, XM_047433401.1:c.*209C>T, XM_047433399.1:c.1167C>T

Select item 144772942918.

rs1447729429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:161175059 (GRCh38)
1:161144849 (GRCh37)
Canonical SPDI:: NC_000001.11:161175058:C:G,NC_000001.11:161175058:C:T
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161175059C>G, NC_000001.11:g.161175059C>T, NC_000001.10:g.161144849C>G, NC_000001.10:g.161144849C>T, NG_012877.2:g.13669C>G, NG_012877.2:g.13669C>T, NG_011480.1:g.7466G>C, NG_011480.1:g.7466G>A, NM_003779.4:c.423G>C, NM_003779.4:c.423G>A, NM_003779.3:c.423G>C, NM_003779.3:c.423G>A, NM_001199873.1:c.423G>C, NM_001199873.1:c.423G>A, NM_001199874.1:c.423G>C, NM_001199874.1:c.423G>A, XM_005245566.3:c.423G>C, XM_005245566.3:c.423G>A, XM_005245566.2:c.423G>C, XM_005245566.2:c.423G>A, XM_005245566.1:c.423G>C, XM_005245566.1:c.423G>A, XM_017002714.3:c.423G>C, XM_017002714.3:c.423G>A, XM_017002714.2:c.423G>C, XM_017002714.2:c.423G>A, XM_017002714.1:c.423G>C, XM_017002714.1:c.423G>A, XM_011510093.3:c.423G>C, XM_011510093.3:c.423G>A, XM_011510093.2:c.423G>C, XM_011510093.2:c.423G>A, XM_011510093.1:c.423G>C, XM_011510093.1:c.423G>A, XM_024450540.2:c.423G>C, XM_024450540.2:c.423G>A, XM_024450540.1:c.423G>C, XM_024450540.1:c.423G>A, XM_024450541.2:c.423G>C, XM_024450541.2:c.423G>A, XM_024450541.1:c.423G>C, XM_024450541.1:c.423G>A, XM_047433402.1:c.423G>C, XM_047433402.1:c.423G>A, XM_047433401.1:c.423G>C, XM_047433401.1:c.423G>A, XM_047433399.1:c.423G>C, XM_047433399.1:c.423G>A

Select item 144592879619.

rs1445928796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161175956 (GRCh38)
1:161145746 (GRCh37)
Canonical SPDI:: NC_000001.11:161175955:A:G
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161175956A>G, NC_000001.10:g.161145746A>G, NG_012877.2:g.14566A>G, NG_011480.1:g.6569T>C, NM_003779.4:c.105T>C, NM_003779.3:c.105T>C, NM_001199873.1:c.105T>C, NM_001199874.1:c.105T>C, XM_005245566.3:c.105T>C, XM_005245566.2:c.105T>C, XM_005245566.1:c.105T>C, XM_017002714.3:c.105T>C, XM_017002714.2:c.105T>C, XM_017002714.1:c.105T>C, XM_011510093.3:c.105T>C, XM_011510093.2:c.105T>C, XM_011510093.1:c.105T>C, XM_024450540.2:c.105T>C, XM_024450540.1:c.105T>C, XM_024450541.2:c.105T>C, XM_024450541.1:c.105T>C, XM_047433402.1:c.105T>C, XM_047433401.1:c.105T>C, XM_047433399.1:c.105T>C

Select item 144345004420.

rs1443450044 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:161175861 (GRCh38)
1:161145651 (GRCh37)
Canonical SPDI:: NC_000001.11:161175860:CCCCC:CCCC
Gene:: PPOX (Varview), B4GALT3 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161175865del, NC_000001.10:g.161145655del, NG_012877.2:g.14475del, NG_011480.1:g.6664del, NM_003779.4:c.200del, NM_003779.3:c.200del, NM_001199873.1:c.200del, NM_001199874.1:c.200del, XM_005245566.3:c.200del, XM_005245566.2:c.200del, XM_005245566.1:c.200del, XM_017002714.3:c.200del, XM_017002714.2:c.200del, XM_017002714.1:c.200del, XM_011510093.3:c.200del, XM_011510093.2:c.200del, XM_011510093.1:c.200del, XM_024450540.2:c.200del, XM_024450540.1:c.200del, XM_024450541.2:c.200del, XM_024450541.1:c.200del, XM_047433402.1:c.200del, XM_047433401.1:c.200del, XM_047433399.1:c.200del, NP_003770.1:p.Gly67fs, NP_001186802.1:p.Gly67fs, NP_001186803.1:p.Gly67fs, XP_005245623.1:p.Gly67fs, XP_016858203.1:p.Gly67fs, XP_011508395.1:p.Gly67fs, XP_024306308.1:p.Gly67fs, XP_024306309.1:p.Gly67fs, XP_047289358.1:p.Gly67fs, XP_047289357.1:p.Gly67fs, XP_047289355.1:p.Gly67fs

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