SNP Links for Protein (Select 148237498) - SNP

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Links from Protein

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Select item 14902606801.

rs1490260680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:59181937 (GRCh38)
11:58949410 (GRCh37)
Canonical SPDI:: NC_000011.10:59181936:T:G
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.59181937T>G, NC_000011.9:g.58949410T>G, NM_015177.2:c.410T>G, NM_015177.1:c.410T>G, NM_001300727.2:c.92T>G, NM_001300727.1:c.92T>G, NP_055992.1:p.Phe137Cys, NP_001287656.1:p.Phe31Cys

Select item 14897480062.

rs1489748006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:59192113 (GRCh38)
11:58959586 (GRCh37)
Canonical SPDI:: NC_000011.10:59192112:A:C
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.59192113A>C, NC_000011.9:g.58959586A>C, NM_015177.2:c.1237A>C, NM_015177.1:c.1237A>C, NM_001300727.2:c.919A>C, NM_001300727.1:c.919A>C, NP_055992.1:p.Met413Leu, NP_001287656.1:p.Met307Leu

Select item 14858577993.

rs1485857799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:59189300 (GRCh38)
11:58956773 (GRCh37)
Canonical SPDI:: NC_000011.10:59189299:C:T
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.59189300C>T, NC_000011.9:g.58956773C>T, NM_015177.2:c.1136C>T, NM_015177.1:c.1136C>T, NM_001300727.2:c.818C>T, NM_001300727.1:c.818C>T, NP_055992.1:p.Thr379Ile, NP_001287656.1:p.Thr273Ile

Select item 14847505554.

rs1484750555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:59204870 (GRCh38)
11:58972343 (GRCh37)
Canonical SPDI:: NC_000011.10:59204869:G:A
Gene:: DTX4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.59204870G>A, NC_000011.9:g.58972343G>A, NM_015177.2:c.1821G>A, NM_015177.1:c.1821G>A, NM_001300727.2:c.1503G>A, NM_001300727.1:c.1503G>A

Select item 14845660255.

rs1484566025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:59191162 (GRCh38)
11:58958635 (GRCh37)
Canonical SPDI:: NC_000011.10:59191161:A:G
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59191162A>G, NC_000011.9:g.58958635A>G, NM_015177.2:c.1208A>G, NM_015177.1:c.1208A>G, NM_001300727.2:c.890A>G, NM_001300727.1:c.890A>G, XR_007062681.1:n.941T>C, XR_007062682.1:n.941T>C, NP_055992.1:p.His403Arg, NP_001287656.1:p.His297Arg

Select item 14841969806.

rs1484196980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:59195286 (GRCh38)
11:58962759 (GRCh37)
Canonical SPDI:: NC_000011.10:59195285:T:C
Gene:: DTX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59195286T>C, NC_000011.9:g.58962759T>C, NM_015177.2:c.1453T>C, NM_015177.1:c.1453T>C, NM_001300727.2:c.1135T>C, NM_001300727.1:c.1135T>C, NP_055992.1:p.Tyr485His, NP_001287656.1:p.Tyr379His

Select item 14841457507.

rs1484145750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:59199751 (GRCh38)
11:58967224 (GRCh37)
Canonical SPDI:: NC_000011.10:59199750:C:T
Gene:: DTX4 (Varview)
Functional Consequence:: 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_000011.10:g.59199751C>T, NC_000011.9:g.58967224C>T, NM_015177.2:c.1604C>T, NM_015177.1:c.1604C>T, NM_001300727.2:c.1286C>T, NM_001300727.1:c.1286C>T, NP_055992.1:p.Pro535Leu, NP_001287656.1:p.Pro429Leu

Select item 14825962078.

rs1482596207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:59182350 (GRCh38)
11:58949823 (GRCh37)
Canonical SPDI:: NC_000011.10:59182349:G:T
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59182350G>T, NC_000011.9:g.58949823G>T, NM_015177.2:c.823G>T, NM_015177.1:c.823G>T, NM_001300727.2:c.505G>T, NM_001300727.1:c.505G>T, NP_055992.1:p.Ala275Ser, NP_001287656.1:p.Ala169Ser

Select item 14769162569.

rs1476916256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:59181868 (GRCh38)
11:58949341 (GRCh37)
Canonical SPDI:: NC_000011.10:59181867:A:G
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.59181868A>G, NC_000011.9:g.58949341A>G, NM_015177.2:c.341A>G, NM_015177.1:c.341A>G, NM_001300727.2:c.23A>G, NM_001300727.1:c.23A>G, NP_055992.1:p.Gln114Arg, NP_001287656.1:p.Gln8Arg

Select item 147431217610.

rs1474312176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:59192239 (GRCh38)
11:58959712 (GRCh37)
Canonical SPDI:: NC_000011.10:59192238:A:T
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59192239A>T, NC_000011.9:g.58959712A>T, NM_015177.2:c.1363A>T, NM_015177.1:c.1363A>T, NM_001300727.2:c.1045A>T, NM_001300727.1:c.1045A>T, NP_055992.1:p.Asn455Tyr, NP_001287656.1:p.Asn349Tyr

Select item 147253869211.

rs1472538692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:59182149 (GRCh38)
11:58949622 (GRCh37)
Canonical SPDI:: NC_000011.10:59182148:A:G
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.59182149A>G, NC_000011.9:g.58949622A>G, NM_015177.2:c.622A>G, NM_015177.1:c.622A>G, NM_001300727.2:c.304A>G, NM_001300727.1:c.304A>G, NP_055992.1:p.Ser208Gly, NP_001287656.1:p.Ser102Gly

Select item 147106074812.

rs1471060748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:59181986 (GRCh38)
11:58949459 (GRCh37)
Canonical SPDI:: NC_000011.10:59181985:C:T
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.59181986C>T, NC_000011.9:g.58949459C>T, NM_015177.2:c.459C>T, NM_015177.1:c.459C>T, NM_001300727.2:c.141C>T, NM_001300727.1:c.141C>T

Select item 147066949613.

rs1470669496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:59172637 (GRCh38)
11:58940110 (GRCh37)
Canonical SPDI:: NC_000011.10:59172636:C:T
Gene:: DTX4 (Varview), LOC124902601 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.59172637C>T, NC_000011.9:g.58940110C>T, NM_015177.2:c.42C>T, NM_015177.1:c.42C>T, XM_047427951.1:c.275G>A, XP_047283907.1:p.Arg92His

Select item 146750105814.

rs1467501058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:59172696 (GRCh38)
11:58940169 (GRCh37)
Canonical SPDI:: NC_000011.10:59172695:T:G
Gene:: DTX4 (Varview), LOC124902601 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.59172696T>G, NC_000011.9:g.58940169T>G, NM_015177.2:c.101T>G, NM_015177.1:c.101T>G, XM_047427951.1:c.216A>C, NP_055992.1:p.Val34Gly

Select item 146582470615.

rs1465824706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:59192227 (GRCh38)
11:58959700 (GRCh37)
Canonical SPDI:: NC_000011.10:59192226:G:A
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00006/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59192227G>A, NC_000011.9:g.58959700G>A, NM_015177.2:c.1351G>A, NM_015177.1:c.1351G>A, NM_001300727.2:c.1033G>A, NM_001300727.1:c.1033G>A, NP_055992.1:p.Ala451Thr, NP_001287656.1:p.Ala345Thr

Select item 146321892716.

rs1463218927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:59181943 (GRCh38)
11:58949416 (GRCh37)
Canonical SPDI:: NC_000011.10:59181942:C:A
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59181943C>A, NC_000011.9:g.58949416C>A, NM_015177.2:c.416C>A, NM_015177.1:c.416C>A, NM_001300727.2:c.98C>A, NM_001300727.1:c.98C>A, NP_055992.1:p.Thr139Asn, NP_001287656.1:p.Thr33Asn

Select item 146314350117.

rs1463143501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:59188784 (GRCh38)
11:58956257 (GRCh37)
Canonical SPDI:: NC_000011.10:59188783:C:A
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59188784C>A, NC_000011.9:g.58956257C>A, NM_015177.2:c.985C>A, NM_015177.1:c.985C>A, NM_001300727.2:c.667C>A, NM_001300727.1:c.667C>A, NP_055992.1:p.Pro329Thr, NP_001287656.1:p.Pro223Thr

Select item 146269634518.

rs1462696345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:59182299 (GRCh38)
11:58949772 (GRCh37)
Canonical SPDI:: NC_000011.10:59182298:A:G
Gene:: DTX4 (Varview), LOC124902675 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.59182299A>G, NC_000011.9:g.58949772A>G, NM_015177.2:c.772A>G, NM_015177.1:c.772A>G, NM_001300727.2:c.454A>G, NM_001300727.1:c.454A>G, NP_055992.1:p.Ile258Val, NP_001287656.1:p.Ile152Val

Select item 146258249619.

rs1462582496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:59172649 (GRCh38)
11:58940122 (GRCh37)
Canonical SPDI:: NC_000011.10:59172648:C:T
Gene:: DTX4 (Varview), LOC124902601 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,missense_variant
HGVS:: NC_000011.10:g.59172649C>T, NC_000011.9:g.58940122C>T, NM_015177.2:c.54C>T, NM_015177.1:c.54C>T, XM_047427951.1:c.263G>A, XP_047283907.1:p.Ser88Asn

Select item 146166335320.

rs1461663353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:59172746 (GRCh38)
11:58940219 (GRCh37)
Canonical SPDI:: NC_000011.10:59172745:A:G
Gene:: DTX4 (Varview), LOC124902601 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.59172746A>G, NC_000011.9:g.58940219A>G, NM_015177.2:c.151A>G, NM_015177.1:c.151A>G, NP_055992.1:p.Ser51Gly

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