SNP Links for Protein (Select 219283190) - SNP

Links from Protein

Items: 1 to 20 of 249

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Select item 14895751041.

rs1489575104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:177307129 (GRCh38)
5:176734130 (GRCh37)
Canonical SPDI:: NC_000005.10:177307128:G:C
Gene:: PRELID1 (Varview), MXD3 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177307129G>C, NC_000005.9:g.176734130G>C, NM_001142935.2:c.572C>G, NM_001142935.1:c.572C>G, NP_001136407.1:p.Ser191Cys

Select item 14858782142.

rs1485878214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177307946 (GRCh38)
5:176734947 (GRCh37)
Canonical SPDI:: NC_000005.10:177307945:G:A
Gene:: MXD3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177307946G>A, NC_000005.9:g.176734947G>A, NM_031300.4:c.340C>T, NM_031300.3:c.340C>T, NM_001142935.2:c.340C>T, NM_001142935.1:c.340C>T, NM_001394986.1:c.340C>T, NM_001394987.1:c.310C>T, NP_112590.1:p.Gln114Ter, NP_001136407.1:p.Gln114Ter, NP_001381915.1:p.Gln114Ter, NP_001381916.1:p.Gln104Ter

Select item 14830407703.

rs1483040770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:177310479 (GRCh38)
5:176737480 (GRCh37)
Canonical SPDI:: NC_000005.10:177310478:A:T
Gene:: MXD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177310479A>T, NC_000005.9:g.176737480A>T, NM_031300.4:c.268T>A, NM_031300.3:c.268T>A, NM_001142935.2:c.268T>A, NM_001142935.1:c.268T>A, NM_001394986.1:c.268T>A, NM_001394987.1:c.238T>A, NP_112590.1:p.Cys90Ser, NP_001136407.1:p.Cys90Ser, NP_001381915.1:p.Cys90Ser, NP_001381916.1:p.Cys80Ser

Select item 14825677054.

rs1482567705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177310493 (GRCh38)
5:176737494 (GRCh37)
Canonical SPDI:: NC_000005.10:177310492:G:A
Gene:: MXD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000005.10:g.177310493G>A, NC_000005.9:g.176737494G>A, NM_031300.4:c.254C>T, NM_031300.3:c.254C>T, NM_001142935.2:c.254C>T, NM_001142935.1:c.254C>T, NM_001394986.1:c.254C>T, NM_001394987.1:c.224C>T, NP_112590.1:p.Pro85Leu, NP_001136407.1:p.Pro85Leu, NP_001381915.1:p.Pro85Leu, NP_001381916.1:p.Pro75Leu

Select item 14809896565.

rs1480989656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177311772 (GRCh38)
5:176738773 (GRCh37)
Canonical SPDI:: NC_000005.10:177311771:C:T
Gene:: MXD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.177311772C>T, NC_000005.9:g.176738773C>T, NM_031300.4:c.59G>A, NM_031300.3:c.59G>A, NM_001142935.2:c.59G>A, NM_001142935.1:c.59G>A, NM_001394986.1:c.59G>A, NM_001394987.1:c.59G>A, NP_112590.1:p.Arg20His, NP_001136407.1:p.Arg20His, NP_001381915.1:p.Arg20His, NP_001381916.1:p.Arg20His

Select item 14795025176.

rs1479502517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177307896 (GRCh38)
5:176734897 (GRCh37)
Canonical SPDI:: NC_000005.10:177307895:C:T
Gene:: MXD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177307896C>T, NC_000005.9:g.176734897C>T, NM_031300.4:c.390G>A, NM_031300.3:c.390G>A, NM_001142935.2:c.390G>A, NM_001142935.1:c.390G>A, NM_001394986.1:c.390G>A, NM_001394987.1:c.360G>A

Select item 14793539877.

rs1479353987 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCAG [Show Flanks]
Chromosome:: 5:177311397 (GRCh38)
5:176738399 (GRCh37)
Canonical SPDI:: NC_000005.10:177311397:CAG:CAGCGCAG
Gene:: MXD3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CAGCGCAG=0./0 (ALFA)
HGVS:: NC_000005.10:g.177311400_177311401insCGCAG, NC_000005.9:g.176738401_176738402insCGCAG, NM_031300.4:c.157_158insCGCTG, NM_031300.3:c.157_158insCGCTG, NM_001142935.2:c.157_158insCGCTG, NM_001142935.1:c.157_158insCGCTG, NM_001394986.1:c.157_158insCGCTG, NM_001394987.1:c.157_158insCGCTG, NP_112590.1:p.Gly53fs, NP_001136407.1:p.Gly53fs, NP_001381915.1:p.Gly53fs, NP_001381916.1:p.Gly53fs

Select item 14767551478.

rs1476755147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:177310526 (GRCh38)
5:176737527 (GRCh37)
Canonical SPDI:: NC_000005.10:177310525:T:C
Gene:: MXD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (GnomAD)
HGVS:: NC_000005.10:g.177310526T>C, NC_000005.9:g.176737527T>C, NM_031300.4:c.221A>G, NM_031300.3:c.221A>G, NM_001142935.2:c.221A>G, NM_001142935.1:c.221A>G, NM_001394986.1:c.221A>G, NM_001394987.1:c.191A>G, NP_112590.1:p.Lys74Arg, NP_001136407.1:p.Lys74Arg, NP_001381915.1:p.Lys74Arg, NP_001381916.1:p.Lys64Arg

Select item 14759050169.

rs1475905016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:177311414 (GRCh38)
5:176738415 (GRCh37)
Canonical SPDI:: NC_000005.10:177311413:T:G
Gene:: MXD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00514/61 (ALFA)
G=0.06743/195 (KOREAN)
HGVS:: NC_000005.10:g.177311414T>G, NC_000005.9:g.176738415T>G, NM_031300.4:c.141A>C, NM_031300.3:c.141A>C, NM_001142935.2:c.141A>C, NM_001142935.1:c.141A>C, NM_001394986.1:c.141A>C, NM_001394987.1:c.141A>C

Select item 146935259010.

rs1469352590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177307120 (GRCh38)
5:176734121 (GRCh37)
Canonical SPDI:: NC_000005.10:177307119:C:T
Gene:: PRELID1 (Varview), MXD3 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,genic_downstream_transcript_variant,terminator_codon_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.177307120C>T, NC_000005.9:g.176734121C>T, NM_001142935.2:c.581G>A, NM_001142935.1:c.581G>A

Select item 146673604211.

rs1466736042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177307859 (GRCh38)
5:176734860 (GRCh37)
Canonical SPDI:: NC_000005.10:177307858:C:T
Gene:: MXD3 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177307859C>T, NC_000005.9:g.176734860C>T, NM_031300.4:c.427G>A, NM_031300.3:c.427G>A, NM_001142935.2:c.427G>A, NM_001142935.1:c.427G>A, NM_001394986.1:c.427G>A, NM_001394987.1:c.397G>A, NP_112590.1:p.Ala143Thr, NP_001136407.1:p.Ala143Thr, NP_001381915.1:p.Ala143Thr, NP_001381916.1:p.Ala133Thr

Select item 146074645212.

rs1460746452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177307921 (GRCh38)
5:176734922 (GRCh37)
Canonical SPDI:: NC_000005.10:177307920:C:T
Gene:: MXD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177307921C>T, NC_000005.9:g.176734922C>T, NM_031300.4:c.365G>A, NM_031300.3:c.365G>A, NM_001142935.2:c.365G>A, NM_001142935.1:c.365G>A, NM_001394986.1:c.365G>A, NM_001394987.1:c.335G>A, NP_112590.1:p.Arg122Lys, NP_001136407.1:p.Arg122Lys, NP_001381915.1:p.Arg122Lys, NP_001381916.1:p.Arg112Lys

Select item 145768066713.

rs1457680667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177311432 (GRCh38)
5:176738433 (GRCh37)
Canonical SPDI:: NC_000005.10:177311431:G:A
Gene:: MXD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.177311432G>A, NC_000005.9:g.176738433G>A, NM_031300.4:c.123C>T, NM_031300.3:c.123C>T, NM_001142935.2:c.123C>T, NM_001142935.1:c.123C>T, NM_001394986.1:c.123C>T, NM_001394987.1:c.123C>T

Select item 145350708114.

rs1453507081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:177307824 (GRCh38)
5:176734825 (GRCh37)
Canonical SPDI:: NC_000005.10:177307823:C:A,NC_000005.10:177307823:C:T
Gene:: MXD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.177307824C>A, NC_000005.10:g.177307824C>T, NC_000005.9:g.176734825C>A, NC_000005.9:g.176734825C>T, NM_031300.4:c.462G>T, NM_031300.4:c.462G>A, NM_031300.3:c.462G>T, NM_031300.3:c.462G>A, NM_001142935.2:c.462G>T, NM_001142935.2:c.462G>A, NM_001142935.1:c.462G>T, NM_001142935.1:c.462G>A, NM_001394986.1:c.462G>T, NM_001394986.1:c.462G>A, NM_001394987.1:c.432G>T, NM_001394987.1:c.432G>A

Select item 144599213315.

rs1445992133 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:177307121 (GRCh38)
5:176734122 (GRCh37)
Canonical SPDI:: NC_000005.10:177307120:A:G
Gene:: PRELID1 (Varview), MXD3 (Varview)
Functional Consequence:: 500B_downstream_variant,stop_lost,downstream_transcript_variant,genic_downstream_transcript_variant,terminator_codon_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.177307121A>G, NC_000005.9:g.176734122A>G, NM_001142935.2:c.580T>C, NM_001142935.1:c.580T>C, NP_001136407.1:p.Ter194Arg

Select item 144271246116.

rs1442712461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:177307793 (GRCh38)
5:176734794 (GRCh37)
Canonical SPDI:: NC_000005.10:177307792:C:A
Gene:: MXD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177307793C>A, NC_000005.9:g.176734794C>A, NM_031300.4:c.493G>T, NM_031300.3:c.493G>T, NM_001142935.2:c.493G>T, NM_001142935.1:c.493G>T, NM_001394986.1:c.493G>T, NM_001394987.1:c.463G>T, NP_112590.1:p.Asp165Tyr, NP_001136407.1:p.Asp165Tyr, NP_001381915.1:p.Asp165Tyr, NP_001381916.1:p.Asp155Tyr

Select item 143967669117.

rs1439676691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:177307173 (GRCh38)
5:176734174 (GRCh37)
Canonical SPDI:: NC_000005.10:177307172:T:C
Gene:: PRELID1 (Varview), MXD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000085/3 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.177307173T>C, NC_000005.9:g.176734174T>C, NM_001142935.2:c.528A>G, NM_001142935.1:c.528A>G

Select item 143610155118.

rs1436101551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:177311815 (GRCh38)
5:176738816 (GRCh37)
Canonical SPDI:: NC_000005.10:177311814:T:C
Gene:: MXD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177311815T>C, NC_000005.9:g.176738816T>C, NM_031300.4:c.16A>G, NM_031300.3:c.16A>G, NM_001142935.2:c.16A>G, NM_001142935.1:c.16A>G, NM_001394986.1:c.16A>G, NM_001394987.1:c.16A>G, NP_112590.1:p.Ser6Gly, NP_001136407.1:p.Ser6Gly, NP_001381915.1:p.Ser6Gly, NP_001381916.1:p.Ser6Gly

Select item 143324079019.

rs1433240790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177307818 (GRCh38)
5:176734819 (GRCh37)
Canonical SPDI:: NC_000005.10:177307817:G:A
Gene:: MXD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.177307818G>A, NC_000005.9:g.176734819G>A, NM_031300.4:c.468C>T, NM_031300.3:c.468C>T, NM_001142935.2:c.468C>T, NM_001142935.1:c.468C>T, NM_001394986.1:c.468C>T, NM_001394987.1:c.438C>T

Select item 143101899020.

rs1431018990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177310457 (GRCh38)
5:176737458 (GRCh37)
Canonical SPDI:: NC_000005.10:177310456:C:T
Gene:: MXD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.177310457C>T, NC_000005.9:g.176737458C>T, NM_031300.4:c.290G>A, NM_031300.3:c.290G>A, NM_001142935.2:c.290G>A, NM_001142935.1:c.290G>A, NM_001394986.1:c.290G>A, NM_001394987.1:c.260G>A, NP_112590.1:p.Ser97Asn, NP_001136407.1:p.Ser97Asn, NP_001381915.1:p.Ser97Asn, NP_001381916.1:p.Ser87Asn

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