SNP Links for Protein (Select 111185922) - SNP

Links from Protein

Items: 1 to 20 of 219

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Select item 14876792171.

rs1487679217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:230010837 (GRCh38)
2:230875553 (GRCh37)
Canonical SPDI:: NC_000002.12:230010836:C:T
Gene:: FBXO36 (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_000002.12:g.230010837C>T, NC_000002.11:g.230875553C>T, NM_174899.5:c.520C>T, NM_174899.4:c.520C>T, XM_005246317.3:c.445C>T, XM_005246317.2:c.445C>T, XM_005246317.1:c.445C>T, NP_777559.3:p.Arg174Cys, XP_005246374.1:p.Arg149Cys

Select item 14846766262.

rs1484676626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:229922568 (GRCh38)
2:230787284 (GRCh37)
Canonical SPDI:: NC_000002.12:229922567:C:T
Gene:: TRIP12 (Varview), FBXO36 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.229922568C>T, NC_000002.11:g.230787284C>T, NG_053017.1:g.5667G>A, NM_174899.5:c.55C>T, NM_174899.4:c.55C>T, NP_777559.3:p.Pro19Ser

Select item 14817937173.

rs1481793717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:229922536 (GRCh38)
2:230787252 (GRCh37)
Canonical SPDI:: NC_000002.12:229922535:C:G,NC_000002.12:229922535:C:T
Gene:: TRIP12 (Varview), FBXO36 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00039/7 (TOMMO)
HGVS:: NC_000002.12:g.229922536C>G, NC_000002.12:g.229922536C>T, NC_000002.11:g.230787252C>G, NC_000002.11:g.230787252C>T, NG_053017.1:g.5699G>C, NG_053017.1:g.5699G>A, NM_174899.5:c.23C>G, NM_174899.5:c.23C>T, NM_174899.4:c.23C>G, NM_174899.4:c.23C>T, NP_777559.3:p.Thr8Ser, NP_777559.3:p.Thr8Ile

Select item 14797695444.

rs1479769544 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:229922574 (GRCh38)
2:230787290 (GRCh37)
Canonical SPDI:: NC_000002.12:229922573:A:C
Gene:: TRIP12 (Varview), FBXO36 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.229922574A>C, NC_000002.11:g.230787290A>C, NG_053017.1:g.5661T>G, NM_174899.5:c.61A>C, NM_174899.4:c.61A>C, NP_777559.3:p.Lys21Gln

Select item 14787449915.

rs1478744991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:229996828 (GRCh38)
2:230861544 (GRCh37)
Canonical SPDI:: NC_000002.12:229996827:G:A
Gene:: FBXO36 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000048/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.229996828G>A, NC_000002.11:g.230861544G>A, NM_174899.5:c.283G>A, NM_174899.4:c.283G>A, XM_005246317.3:c.208G>A, XM_005246317.2:c.208G>A, XM_005246317.1:c.208G>A, NP_777559.3:p.Glu95Lys, XP_005246374.1:p.Glu70Lys

Select item 14755506086.

rs1475550608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:230010825 (GRCh38)
2:230875541 (GRCh37)
Canonical SPDI:: NC_000002.12:230010824:C:T
Gene:: FBXO36 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.230010825C>T, NC_000002.11:g.230875541C>T, NM_174899.5:c.508C>T, NM_174899.4:c.508C>T, XM_005246317.3:c.433C>T, XM_005246317.2:c.433C>T, XM_005246317.1:c.433C>T, NP_777559.3:p.Gln170Ter, XP_005246374.1:p.Gln145Ter

Select item 14737852117.

rs1473785211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:229976279 (GRCh38)
2:230840995 (GRCh37)
Canonical SPDI:: NC_000002.12:229976278:G:A
Gene:: FBXO36 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.229976279G>A, NC_000002.11:g.230840995G>A, NM_174899.5:c.135G>A, NM_174899.4:c.135G>A, XM_005246317.3:c.60G>A, XM_005246317.2:c.60G>A, XM_005246317.1:c.60G>A

Select item 14697099848.

rs1469709984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:229922576 (GRCh38)
2:230787292 (GRCh37)
Canonical SPDI:: NC_000002.12:229922575:A:G
Gene:: TRIP12 (Varview), FBXO36 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.229922576A>G, NC_000002.11:g.230787292A>G, NG_053017.1:g.5659T>C, NM_174899.5:c.63A>G, NM_174899.4:c.63A>G

Select item 14593011419.

rs1459301141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:230010859 (GRCh38)
2:230875575 (GRCh37)
Canonical SPDI:: NC_000002.12:230010858:G:A
Gene:: FBXO36 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.230010859G>A, NC_000002.11:g.230875575G>A, NM_174899.5:c.542G>A, NM_174899.4:c.542G>A, XM_005246317.3:c.467G>A, XM_005246317.2:c.467G>A, XM_005246317.1:c.467G>A, NP_777559.3:p.Gly181Glu, XP_005246374.1:p.Gly156Glu

Select item 145791063710.

rs1457910637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:230010758 (GRCh38)
2:230875474 (GRCh37)
Canonical SPDI:: NC_000002.12:230010757:T:G
Gene:: FBXO36 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.230010758T>G, NC_000002.11:g.230875474T>G, NM_174899.5:c.441T>G, NM_174899.4:c.441T>G, XM_005246317.3:c.366T>G, XM_005246317.2:c.366T>G, XM_005246317.1:c.366T>G

Select item 145241563211.

rs1452415632 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:229996755 (GRCh38)
2:230861471 (GRCh37)
Canonical SPDI:: NC_000002.12:229996754:A:G
Gene:: FBXO36 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.229996755A>G, NC_000002.11:g.230861471A>G, NM_174899.5:c.210A>G, NM_174899.4:c.210A>G, XM_005246317.3:c.135A>G, XM_005246317.2:c.135A>G, XM_005246317.1:c.135A>G

Select item 144199622812.

rs1441996228 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:230010702 (GRCh38)
2:230875418 (GRCh37)
Canonical SPDI:: NC_000002.12:230010701:A:G
Gene:: FBXO36 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.230010702A>G, NC_000002.11:g.230875418A>G, NM_174899.5:c.385A>G, NM_174899.4:c.385A>G, XM_005246317.3:c.310A>G, XM_005246317.2:c.310A>G, XM_005246317.1:c.310A>G, NP_777559.3:p.Met129Val, XP_005246374.1:p.Met104Val

Select item 144073900913.

rs1440739009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:230010847 (GRCh38)
2:230875563 (GRCh37)
Canonical SPDI:: NC_000002.12:230010846:A:C,NC_000002.12:230010846:A:G
Gene:: FBXO36 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.230010847A>C, NC_000002.12:g.230010847A>G, NC_000002.11:g.230875563A>C, NC_000002.11:g.230875563A>G, NM_174899.5:c.530A>C, NM_174899.5:c.530A>G, NM_174899.4:c.530A>C, NM_174899.4:c.530A>G, XM_005246317.3:c.455A>C, XM_005246317.3:c.455A>G, XM_005246317.2:c.455A>C, XM_005246317.2:c.455A>G, XM_005246317.1:c.455A>C, XM_005246317.1:c.455A>G, NP_777559.3:p.Lys177Thr, NP_777559.3:p.Lys177Arg, XP_005246374.1:p.Lys152Thr, XP_005246374.1:p.Lys152Arg

Select item 143780883914.

rs1437808839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:229996765 (GRCh38)
2:230861481 (GRCh37)
Canonical SPDI:: NC_000002.12:229996764:A:G
Gene:: FBXO36 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.229996765A>G, NC_000002.11:g.230861481A>G, NM_174899.5:c.220A>G, NM_174899.4:c.220A>G, XM_005246317.3:c.145A>G, XM_005246317.2:c.145A>G, XM_005246317.1:c.145A>G, NP_777559.3:p.Ile74Val, XP_005246374.1:p.Ile49Val

Select item 143582444115.

rs1435824441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:230010790 (GRCh38)
2:230875506 (GRCh37)
Canonical SPDI:: NC_000002.12:230010789:G:A
Gene:: FBXO36 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.230010790G>A, NC_000002.11:g.230875506G>A, NM_174899.5:c.473G>A, NM_174899.4:c.473G>A, XM_005246317.3:c.398G>A, XM_005246317.2:c.398G>A, XM_005246317.1:c.398G>A, NP_777559.3:p.Trp158Ter, XP_005246374.1:p.Trp133Ter

Select item 143198284816.

rs1431982848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:230010763 (GRCh38)
2:230875479 (GRCh37)
Canonical SPDI:: NC_000002.12:230010762:T:C
Gene:: FBXO36 (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=0.000014/2 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.230010763T>C, NC_000002.11:g.230875479T>C, NM_174899.5:c.446T>C, NM_174899.4:c.446T>C, XM_005246317.3:c.371T>C, XM_005246317.2:c.371T>C, XM_005246317.1:c.371T>C, NP_777559.3:p.Val149Ala, XP_005246374.1:p.Val124Ala

Select item 142580248617.

rs1425802486 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:230010852 (GRCh38)
2:230875568 (GRCh37)
Canonical SPDI:: NC_000002.12:230010851:A:C
Gene:: FBXO36 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.230010852A>C, NC_000002.11:g.230875568A>C, NM_174899.5:c.535A>C, NM_174899.4:c.535A>C, XM_005246317.3:c.460A>C, XM_005246317.2:c.460A>C, XM_005246317.1:c.460A>C, NP_777559.3:p.Lys179Gln, XP_005246374.1:p.Lys154Gln

Select item 141989800818.

rs1419898008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:229922582 (GRCh38)
2:230787298 (GRCh37)
Canonical SPDI:: NC_000002.12:229922581:T:G
Gene:: TRIP12 (Varview), FBXO36 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.229922582T>G, NC_000002.11:g.230787298T>G, NG_053017.1:g.5653A>C, NM_174899.5:c.69T>G, NM_174899.4:c.69T>G, NP_777559.3:p.Tyr23Ter

Select item 141793269619.

rs1417932696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:229922579 (GRCh38)
2:230787295 (GRCh37)
Canonical SPDI:: NC_000002.12:229922578:C:A,NC_000002.12:229922578:C:G
Gene:: TRIP12 (Varview), FBXO36 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000002.12:g.229922579C>A, NC_000002.12:g.229922579C>G, NC_000002.11:g.230787295C>A, NC_000002.11:g.230787295C>G, NG_053017.1:g.5656G>T, NG_053017.1:g.5656G>C, NM_174899.5:c.66C>A, NM_174899.5:c.66C>G, NM_174899.4:c.66C>A, NM_174899.4:c.66C>G, NP_777559.3:p.Asp22Glu, NP_777559.3:p.Asp22Glu

Select item 141566499120.

rs1415664991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:230010812 (GRCh38)
2:230875528 (GRCh37)
Canonical SPDI:: NC_000002.12:230010811:C:T
Gene:: FBXO36 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.230010812C>T, NC_000002.11:g.230875528C>T, NM_174899.5:c.495C>T, NM_174899.4:c.495C>T, XM_005246317.3:c.420C>T, XM_005246317.2:c.420C>T, XM_005246317.1:c.420C>T

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