SNP Links for Protein (Select 149944509) - SNP

Links from Protein

Items: 1 to 20 of 606

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Select item 14887372531.

rs1488737253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:69480770 (GRCh38)
4:70346488 (GRCh37)
Canonical SPDI:: NC_000004.12:69480769:G:A,NC_000004.12:69480769:G:C,NC_000004.12:69480769:G:T
Gene:: UGT2B4 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.69480770G>A, NC_000004.12:g.69480770G>C, NC_000004.12:g.69480770G>T, NC_000004.11:g.70346488G>A, NC_000004.11:g.70346488G>C, NC_000004.11:g.70346488G>T, NM_021139.3:c.1451C>T, NM_021139.3:c.1451C>G, NM_021139.3:c.1451C>A, NM_021139.2:c.1451C>T, NM_021139.2:c.1451C>G, NM_021139.2:c.1451C>A, NM_001297616.2:c.1043C>T, NM_001297616.2:c.1043C>G, NM_001297616.2:c.1043C>A, NM_001297616.1:c.1043C>T, NM_001297616.1:c.1043C>G, NM_001297616.1:c.1043C>A, NM_001297615.2:c.*121C>T, NM_001297615.2:c.*121C>G, NM_001297615.2:c.*121C>A, NM_001297615.1:c.*121C>T, NM_001297615.1:c.*121C>G, NM_001297615.1:c.*121C>A, NP_066962.2:p.Thr484Ile, NP_066962.2:p.Thr484Ser, NP_066962.2:p.Thr484Asn, NP_001284545.1:p.Thr348Ile, NP_001284545.1:p.Thr348Ser, NP_001284545.1:p.Thr348Asn

Select item 14866489542.

rs1486648954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:69495804 (GRCh38)
4:70361522 (GRCh37)
Canonical SPDI:: NC_000004.12:69495803:A:T
Gene:: UGT2B4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000004.12:g.69495804A>T, NC_000004.11:g.70361522A>T, NM_021139.3:c.58T>A, NM_021139.2:c.58T>A, NM_001297615.2:c.58T>A, NM_001297615.1:c.58T>A, NP_066962.2:p.Ser20Thr, NP_001284544.1:p.Ser20Thr

Select item 14865781313.

rs1486578131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:69495279 (GRCh38)
4:70360997 (GRCh37)
Canonical SPDI:: NC_000004.12:69495278:G:T
Gene:: UGT2B4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.69495279G>T, NC_000004.11:g.70360997G>T, NM_021139.3:c.583C>A, NM_021139.2:c.583C>A, NM_001297616.2:c.175C>A, NM_001297616.1:c.175C>A, NM_001297615.2:c.583C>A, NM_001297615.1:c.583C>A, NP_066962.2:p.Pro195Thr, NP_001284545.1:p.Pro59Thr, NP_001284544.1:p.Pro195Thr

Select item 14826485024.

rs1482648502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:69480901 (GRCh38)
4:70346619 (GRCh37)
Canonical SPDI:: NC_000004.12:69480900:C:A,NC_000004.12:69480900:C:T
Gene:: UGT2B4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.69480901C>A, NC_000004.12:g.69480901C>T, NC_000004.11:g.70346619C>A, NC_000004.11:g.70346619C>T, NM_021139.3:c.1320G>T, NM_021139.3:c.1320G>A, NM_021139.2:c.1320G>T, NM_021139.2:c.1320G>A, NM_001297616.2:c.912G>T, NM_001297616.2:c.912G>A, NM_001297616.1:c.912G>T, NM_001297616.1:c.912G>A, NM_001297615.2:c.1100G>T, NM_001297615.2:c.1100G>A, NM_001297615.1:c.1100G>T, NM_001297615.1:c.1100G>A, NP_066962.2:p.Glu440Asp, NP_001284545.1:p.Glu304Asp, NP_001284544.1:p.Arg367Ile, NP_001284544.1:p.Arg367Lys

Select item 14825622205.

rs1482562220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:69495816 (GRCh38)
4:70361534 (GRCh37)
Canonical SPDI:: NC_000004.12:69495815:A:G
Gene:: UGT2B4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.69495816A>G, NC_000004.11:g.70361534A>G, NM_021139.3:c.46T>C, NM_021139.2:c.46T>C, NM_001297615.2:c.46T>C, NM_001297615.1:c.46T>C, NP_066962.2:p.Cys16Arg, NP_001284544.1:p.Cys16Arg

Select item 14822212396.

rs1482221239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:69495483 (GRCh38)
4:70361201 (GRCh37)
Canonical SPDI:: NC_000004.12:69495482:A:T
Gene:: UGT2B4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000004.12:g.69495483A>T, NC_000004.11:g.70361201A>T, NM_021139.3:c.379T>A, NM_021139.2:c.379T>A, NM_001297615.2:c.379T>A, NM_001297615.1:c.379T>A, NP_066962.2:p.Cys127Ser, NP_001284544.1:p.Cys127Ser

Select item 14820014897.

rs1482001489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:69495706 (GRCh38)
4:70361424 (GRCh37)
Canonical SPDI:: NC_000004.12:69495705:C:G
Gene:: UGT2B4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.69495706C>G, NC_000004.11:g.70361424C>G, NM_021139.3:c.156G>C, NM_021139.2:c.156G>C, NM_001297615.2:c.156G>C, NM_001297615.1:c.156G>C, NP_066962.2:p.Glu52Asp, NP_001284544.1:p.Glu52Asp

Select item 14811051518.

rs1481105151 [Homo sapiens]

Variant type:: DEL
Alleles:: GATC>- [Show Flanks]
Chromosome:: 4:69495162 (GRCh38)
4:70360880 (GRCh37)
Canonical SPDI:: NC_000004.12:69495161:GATC:
Gene:: UGT2B4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0.000142/2 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.69495162_69495165del, NC_000004.11:g.70360880_70360883del, NM_021139.3:c.697_700del, NM_021139.2:c.697_700del, NM_001297616.2:c.289_292del, NM_001297616.1:c.289_292del, NM_001297615.2:c.697_700del, NM_001297615.1:c.697_700del, NP_066962.2:p.Asp233fs, NP_001284545.1:p.Asp97fs, NP_001284544.1:p.Asp233fs

Select item 14803079189.

rs1480307918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:69485235 (GRCh38)
4:70350953 (GRCh37)
Canonical SPDI:: NC_000004.12:69485234:G:A,NC_000004.12:69485234:G:T
Gene:: UGT2B4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.69485235G>A, NC_000004.12:g.69485235G>T, NC_000004.11:g.70350953G>A, NC_000004.11:g.70350953G>T, NM_021139.3:c.1283C>T, NM_021139.3:c.1283C>A, NM_021139.2:c.1283C>T, NM_021139.2:c.1283C>A, NM_001297616.2:c.875C>T, NM_001297616.2:c.875C>A, NM_001297616.1:c.875C>T, NM_001297616.1:c.875C>A, NP_066962.2:p.Ala428Val, NP_066962.2:p.Ala428Glu, NP_001284545.1:p.Ala292Val, NP_001284545.1:p.Ala292Glu

Select item 148029699310.

rs1480296993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:69486643 (GRCh38)
4:70352361 (GRCh37)
Canonical SPDI:: NC_000004.12:69486642:C:A
Gene:: UGT2B4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.69486643C>A, NC_000004.11:g.70352361C>A, NM_021139.3:c.1056G>T, NM_021139.2:c.1056G>T, NM_001297616.2:c.648G>T, NM_001297616.1:c.648G>T, NM_001297615.2:c.1056G>T, NM_001297615.1:c.1056G>T

Select item 147748631111.

rs1477486311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:69495784 (GRCh38)
4:70361502 (GRCh37)
Canonical SPDI:: NC_000004.12:69495783:C:A
Gene:: UGT2B4 (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=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.69495784C>A, NC_000004.11:g.70361502C>A, NM_021139.3:c.78G>T, NM_021139.2:c.78G>T, NM_001297615.2:c.78G>T, NM_001297615.1:c.78G>T

Select item 147575013412.

rs1475750134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:69493704 (GRCh38)
4:70359422 (GRCh37)
Canonical SPDI:: NC_000004.12:69493703:G:T
Gene:: UGT2B4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.69493704G>T, NC_000004.11:g.70359422G>T, NM_021139.3:c.859C>A, NM_021139.2:c.859C>A, NM_001297616.2:c.451C>A, NM_001297616.1:c.451C>A, NM_001297615.2:c.859C>A, NM_001297615.1:c.859C>A, NP_066962.2:p.Pro287Thr, NP_001284545.1:p.Pro151Thr, NP_001284544.1:p.Pro287Thr

Select item 147563152113.

rs1475631521 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:69480747 (GRCh38)
4:70346465 (GRCh37)
Canonical SPDI:: NC_000004.12:69480746:CC:C
Gene:: UGT2B4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.69480748del, NC_000004.11:g.70346466del, NM_021139.3:c.1474del, NM_021139.2:c.1474del, NM_001297616.2:c.1066del, NM_001297616.1:c.1066del, NM_001297615.2:c.*144del, NM_001297615.1:c.*144del, NP_066962.2:p.Asp492fs, NP_001284545.1:p.Asp356fs

Select item 147248790114.

rs1472487901 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:69495274 (GRCh38)
4:70360992 (GRCh37)
Canonical SPDI:: NC_000004.12:69495273:A:G
Gene:: UGT2B4 (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_000004.12:g.69495274A>G, NC_000004.11:g.70360992A>G, NM_021139.3:c.588T>C, NM_021139.2:c.588T>C, NM_001297616.2:c.180T>C, NM_001297616.1:c.180T>C, NM_001297615.2:c.588T>C, NM_001297615.1:c.588T>C

Select item 146930229315.

rs1469302293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:69489561 (GRCh38)
4:70355279 (GRCh37)
Canonical SPDI:: NC_000004.12:69489560:C:G
Gene:: UGT2B4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.69489561C>G, NC_000004.11:g.70355279C>G, NM_021139.3:c.880G>C, NM_021139.2:c.880G>C, NM_001297616.2:c.472G>C, NM_001297616.1:c.472G>C, NM_001297615.2:c.880G>C, NM_001297615.1:c.880G>C, NP_066962.2:p.Glu294Gln, NP_001284545.1:p.Glu158Gln, NP_001284544.1:p.Glu294Gln

Select item 146504661916.

rs1465046619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:69495153 (GRCh38)
4:70360871 (GRCh37)
Canonical SPDI:: NC_000004.12:69495152:T:C
Gene:: UGT2B4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.69495153T>C, NC_000004.11:g.70360871T>C, NM_021139.3:c.709A>G, NM_021139.2:c.709A>G, NM_001297616.2:c.301A>G, NM_001297616.1:c.301A>G, NM_001297615.2:c.709A>G, NM_001297615.1:c.709A>G, NP_066962.2:p.Ser237Gly, NP_001284545.1:p.Ser101Gly, NP_001284544.1:p.Ser237Gly

Select item 146448469817.

rs1464484698 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:69485407 (GRCh38)
4:70351125 (GRCh37)
Canonical SPDI:: NC_000004.12:69485406:A:G,NC_000004.12:69485406:A:T
Gene:: UGT2B4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.69485407A>G, NC_000004.12:g.69485407A>T, NC_000004.11:g.70351125A>G, NC_000004.11:g.70351125A>T, NM_021139.3:c.1111T>C, NM_021139.3:c.1111T>A, NM_021139.2:c.1111T>C, NM_021139.2:c.1111T>A, NM_001297616.2:c.703T>C, NM_001297616.2:c.703T>A, NM_001297616.1:c.703T>C, NM_001297616.1:c.703T>A, NP_066962.2:p.Phe371Leu, NP_066962.2:p.Phe371Ile, NP_001284545.1:p.Phe235Leu, NP_001284545.1:p.Phe235Ile

Select item 146396635518.

rs1463966355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:69495654 (GRCh38)
4:70361372 (GRCh37)
Canonical SPDI:: NC_000004.12:69495653:A:G
Gene:: UGT2B4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.69495654A>G, NC_000004.11:g.70361372A>G, NM_021139.3:c.208T>C, NM_021139.2:c.208T>C, NM_001297615.2:c.208T>C, NM_001297615.1:c.208T>C, NP_066962.2:p.Ser70Pro, NP_001284544.1:p.Ser70Pro

Select item 146268838219.

rs1462688382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:69480722 (GRCh38)
4:70346440 (GRCh37)
Canonical SPDI:: NC_000004.12:69480721:C:A
Gene:: UGT2B4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.69480722C>A, NC_000004.11:g.70346440C>A, NM_021139.3:c.1499G>T, NM_021139.2:c.1499G>T, NM_001297616.2:c.1091G>T, NM_001297616.1:c.1091G>T, NM_001297615.2:c.*169G>T, NM_001297615.1:c.*169G>T, NP_066962.2:p.Cys500Phe, NP_001284545.1:p.Cys364Phe

Select item 146260599620.

rs1462605996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:69480810 (GRCh38)
4:70346528 (GRCh37)
Canonical SPDI:: NC_000004.12:69480809:T:C
Gene:: UGT2B4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.69480810T>C, NC_000004.11:g.70346528T>C, NM_021139.3:c.1411A>G, NM_021139.2:c.1411A>G, NM_001297616.2:c.1003A>G, NM_001297616.1:c.1003A>G, NM_001297615.2:c.*81A>G, NM_001297615.1:c.*81A>G, NP_066962.2:p.Lys471Glu, NP_001284545.1:p.Lys335Glu

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