SNP Links for Protein (Select 34222387) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55354411 (GRCh38)
19:55865779 (GRCh37)
Canonical SPDI:: NC_000019.10:55354410:C:T
Gene:: COX6B2 (Varview), GARIN5B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.55354411C>T, NC_000019.9:g.55865779C>T, NM_144613.5:c.111G>A, NM_144613.4:c.111G>A, NM_001369798.1:c.111G>A, NM_001369799.1:c.111G>A, NM_001369800.1:c.111G>A

Select item 14095673738.

rs1409567373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:55354469 (GRCh38)
19:55865837 (GRCh37)
Canonical SPDI:: NC_000019.10:55354468:G:T
Gene:: COX6B2 (Varview), GARIN5B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55354469G>T, NC_000019.9:g.55865837G>T, NM_144613.5:c.53C>A, NM_144613.4:c.53C>A, NM_001369798.1:c.53C>A, NM_001369799.1:c.53C>A, NM_001369800.1:c.53C>A, NP_653214.2:p.Pro18His, NP_001356727.1:p.Pro18His, NP_001356728.1:p.Pro18His, NP_001356729.1:p.Pro18His

Select item 14000283169.

rs1400028316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:55353745 (GRCh38)
19:55865113 (GRCh37)
Canonical SPDI:: NC_000019.10:55353744:G:A,NC_000019.10:55353744:G:T
Gene:: COX6B2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.55353745G>A, NC_000019.10:g.55353745G>T, NC_000019.9:g.55865113G>A, NC_000019.9:g.55865113G>T, NM_144613.5:c.243C>T, NM_144613.5:c.243C>A, NM_144613.4:c.243C>T, NM_144613.4:c.243C>A, NM_001369798.1:c.243C>T, NM_001369798.1:c.243C>A, NM_001369799.1:c.243C>T, NM_001369799.1:c.243C>A, NM_001369800.1:c.243C>T, NM_001369800.1:c.243C>A, NP_653214.2:p.Asn81Lys, NP_001356727.1:p.Asn81Lys, NP_001356728.1:p.Asn81Lys, NP_001356729.1:p.Asn81Lys

Select item 139561860610.

rs1395618606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:55353949 (GRCh38)
19:55865317 (GRCh37)
Canonical SPDI:: NC_000019.10:55353948:T:A
Gene:: COX6B2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55353949T>A, NC_000019.9:g.55865317T>A, NM_144613.5:c.130A>T, NM_144613.4:c.130A>T, NM_001369798.1:c.130A>T, NM_001369799.1:c.130A>T, NM_001369800.1:c.130A>T, NP_653214.2:p.Lys44Ter, NP_001356727.1:p.Lys44Ter, NP_001356728.1:p.Lys44Ter, NP_001356729.1:p.Lys44Ter

Select item 139412834411.

rs1394128344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55353737 (GRCh38)
19:55865105 (GRCh37)
Canonical SPDI:: NC_000019.10:55353736:A:G
Gene:: COX6B2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.55353737A>G, NC_000019.9:g.55865105A>G, NM_144613.5:c.251T>C, NM_144613.4:c.251T>C, NM_001369798.1:c.251T>C, NM_001369799.1:c.251T>C, NM_001369800.1:c.251T>C, NP_653214.2:p.Phe84Ser, NP_001356727.1:p.Phe84Ser, NP_001356728.1:p.Phe84Ser, NP_001356729.1:p.Phe84Ser

Select item 138222618612.

rs1382226186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55353744 (GRCh38)
19:55865112 (GRCh37)
Canonical SPDI:: NC_000019.10:55353743:C:T
Gene:: COX6B2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.55353744C>T, NC_000019.9:g.55865112C>T, NM_144613.5:c.244G>A, NM_144613.4:c.244G>A, NM_001369798.1:c.244G>A, NM_001369799.1:c.244G>A, NM_001369800.1:c.244G>A, NP_653214.2:p.Gly82Arg, NP_001356727.1:p.Gly82Arg, NP_001356728.1:p.Gly82Arg, NP_001356729.1:p.Gly82Arg

Select item 138108538613.

rs1381085386 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 19:55353911 (GRCh38)
19:55865279 (GRCh37)
Canonical SPDI:: NC_000019.10:55353909:CGC:C
Gene:: COX6B2 (Varview)
Functional Consequence:: inframe_indel,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55353911_55353912del, NC_000019.9:g.55865279_55865280del, NM_144613.5:c.168_169del, NM_144613.4:c.168_169del, NM_001369798.1:c.168_169del, NM_001369799.1:c.168_169del, NM_001369800.1:c.168_169del, NP_653214.2:p.Cys56_Glu57delinsTer, NP_001356727.1:p.Cys56_Glu57delinsTer, NP_001356728.1:p.Cys56_Glu57delinsTer, NP_001356729.1:p.Cys56_Glu57delinsTer

Select item 137219262314.

rs1372192623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:55353912 (GRCh38)
19:55865280 (GRCh37)
Canonical SPDI:: NC_000019.10:55353911:C:A
Gene:: COX6B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.55353912C>A, NC_000019.9:g.55865280C>A, NM_144613.5:c.167G>T, NM_144613.4:c.167G>T, NM_001369798.1:c.167G>T, NM_001369799.1:c.167G>T, NM_001369800.1:c.167G>T, NP_653214.2:p.Cys56Phe, NP_001356727.1:p.Cys56Phe, NP_001356728.1:p.Cys56Phe, NP_001356729.1:p.Cys56Phe

Select item 136465862115.

rs1364658621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:55353903 (GRCh38)
19:55865271 (GRCh37)
Canonical SPDI:: NC_000019.10:55353902:T:A,NC_000019.10:55353902:T:C
Gene:: COX6B2 (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)
HGVS:: NC_000019.10:g.55353903T>A, NC_000019.10:g.55353903T>C, NC_000019.9:g.55865271T>A, NC_000019.9:g.55865271T>C, NM_144613.5:c.176A>T, NM_144613.5:c.176A>G, NM_144613.4:c.176A>T, NM_144613.4:c.176A>G, NM_001369798.1:c.176A>T, NM_001369798.1:c.176A>G, NM_001369799.1:c.176A>T, NM_001369799.1:c.176A>G, NM_001369800.1:c.176A>T, NM_001369800.1:c.176A>G, NP_653214.2:p.Tyr59Phe, NP_653214.2:p.Tyr59Cys, NP_001356727.1:p.Tyr59Phe, NP_001356727.1:p.Tyr59Cys, NP_001356728.1:p.Tyr59Phe, NP_001356728.1:p.Tyr59Cys, NP_001356729.1:p.Tyr59Phe, NP_001356729.1:p.Tyr59Cys

Select item 136279041316.

rs1362790413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:55354507 (GRCh38)
19:55865875 (GRCh37)
Canonical SPDI:: NC_000019.10:55354506:T:G
Gene:: COX6B2 (Varview), GARIN5B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55354507T>G, NC_000019.9:g.55865875T>G, NM_144613.5:c.15A>C, NM_144613.4:c.15A>C, NM_001369798.1:c.15A>C, NM_001369799.1:c.15A>C, NM_001369800.1:c.15A>C, NP_653214.2:p.Glu5Asp, NP_001356727.1:p.Glu5Asp, NP_001356728.1:p.Glu5Asp, NP_001356729.1:p.Glu5Asp

Select item 135531580817.

rs1355315808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55354444 (GRCh38)
19:55865812 (GRCh37)
Canonical SPDI:: NC_000019.10:55354443:C:T
Gene:: COX6B2 (Varview), GARIN5B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55354444C>T, NC_000019.9:g.55865812C>T, NM_144613.5:c.78G>A, NM_144613.4:c.78G>A, NM_001369798.1:c.78G>A, NM_001369799.1:c.78G>A, NM_001369800.1:c.78G>A

Select item 134505852218.

rs1345058522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:55353916 (GRCh38)
19:55865284 (GRCh37)
Canonical SPDI:: NC_000019.10:55353915:G:A,NC_000019.10:55353915:G:T
Gene:: COX6B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55353916G>A, NC_000019.10:g.55353916G>T, NC_000019.9:g.55865284G>A, NC_000019.9:g.55865284G>T, NM_144613.5:c.163C>T, NM_144613.5:c.163C>A, NM_144613.4:c.163C>T, NM_144613.4:c.163C>A, NM_001369798.1:c.163C>T, NM_001369798.1:c.163C>A, NM_001369799.1:c.163C>T, NM_001369799.1:c.163C>A, NM_001369800.1:c.163C>T, NM_001369800.1:c.163C>A, NP_653214.2:p.Pro55Ser, NP_653214.2:p.Pro55Thr, NP_001356727.1:p.Pro55Ser, NP_001356727.1:p.Pro55Thr, NP_001356728.1:p.Pro55Ser, NP_001356728.1:p.Pro55Thr, NP_001356729.1:p.Pro55Ser, NP_001356729.1:p.Pro55Thr

Select item 134101006919.

rs1341010069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55353869 (GRCh38)
19:55865237 (GRCh37)
Canonical SPDI:: NC_000019.10:55353868:G:A
Gene:: COX6B2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.55353869G>A, NC_000019.9:g.55865237G>A, NM_144613.5:c.210C>T, NM_144613.4:c.210C>T, NM_001369798.1:c.210C>T, NM_001369799.1:c.210C>T, NM_001369800.1:c.210C>T

Select item 133168115220.

rs1331681152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55354494 (GRCh38)
19:55865862 (GRCh37)
Canonical SPDI:: NC_000019.10:55354493:G:A
Gene:: COX6B2 (Varview), GARIN5B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55354494G>A, NC_000019.9:g.55865862G>A, NM_144613.5:c.28C>T, NM_144613.4:c.28C>T, NM_001369798.1:c.28C>T, NM_001369799.1:c.28C>T, NM_001369800.1:c.28C>T, NP_653214.2:p.Pro10Ser, NP_001356727.1:p.Pro10Ser, NP_001356728.1:p.Pro10Ser, NP_001356729.1:p.Pro10Ser

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