SNP Links for Protein (Select 4758662) - SNP

Links from Protein

Items: 1 to 20 of 712

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Select item 14896065531.

rs1489606553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:23447800 (GRCh38)
8:23305313 (GRCh37)
Canonical SPDI:: NC_000008.11:23447799:T:C
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.23447800T>C, NC_000008.10:g.23305313T>C, NG_030021.1:g.14932A>G, NM_004901.5:c.292A>G, NM_004901.4:c.292A>G, NM_001128930.3:c.292A>G, NM_001128930.2:c.292A>G, NP_004892.1:p.Ser98Gly, NP_001122402.1:p.Ser98Gly

Select item 14888559612.

rs1488855961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:23444548 (GRCh38)
8:23302061 (GRCh37)
Canonical SPDI:: NC_000008.11:23444547:C:A
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.23444548C>A, NC_000008.10:g.23302061C>A, NG_030021.1:g.18184G>T, NM_004901.5:c.471G>T, NM_004901.4:c.471G>T, NM_001128930.3:c.471G>T, NM_001128930.2:c.471G>T, NP_004892.1:p.Leu157Phe, NP_001122402.1:p.Leu157Phe

Select item 14886826383.

rs1488682638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:23447704 (GRCh38)
8:23305217 (GRCh37)
Canonical SPDI:: NC_000008.11:23447703:G:T
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000103/26 (GnomAD_exomes)
T=0.000276/73 (TOPMED)
T=0.000442/62 (GnomAD)
HGVS:: NC_000008.11:g.23447704G>T, NC_000008.10:g.23305217G>T, NG_030021.1:g.15028C>A, NM_004901.5:c.388C>A, NM_004901.4:c.388C>A, NM_001128930.3:c.388C>A, NM_001128930.2:c.388C>A, NP_004892.1:p.Pro130Thr, NP_001122402.1:p.Pro130Thr

Select item 14875002854.

rs1487500285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23435416 (GRCh38)
8:23292929 (GRCh37)
Canonical SPDI:: NC_000008.11:23435415:G:A
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.23435416G>A, NC_000008.10:g.23292929G>A, NG_030021.1:g.27316C>T, NM_004901.5:c.1436C>T, NM_004901.4:c.1436C>T, NM_001128930.3:c.1412C>T, NM_001128930.2:c.1412C>T, NP_004892.1:p.Ser479Phe, NP_001122402.1:p.Ser471Phe

Select item 14872584955.

rs1487258495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:23443950 (GRCh38)
8:23301463 (GRCh37)
Canonical SPDI:: NC_000008.11:23443949:C:G
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.23443950C>G, NC_000008.10:g.23301463C>G, NG_030021.1:g.18782G>C, NM_004901.5:c.567G>C, NM_004901.4:c.567G>C, NM_001128930.3:c.567G>C, NM_001128930.2:c.567G>C, NP_004892.1:p.Gln189His, NP_001122402.1:p.Gln189His

Select item 14848543736.

rs1484854373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:23439782 (GRCh38)
8:23297295 (GRCh37)
Canonical SPDI:: NC_000008.11:23439781:T:C
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.23439782T>C, NC_000008.10:g.23297295T>C, NG_030021.1:g.22950A>G, NM_004901.5:c.1016A>G, NM_004901.4:c.1016A>G, NM_001128930.3:c.992A>G, NM_001128930.2:c.992A>G, NP_004892.1:p.Asp339Gly, NP_001122402.1:p.Asp331Gly

Select item 14839932097.

rs1483993209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:23433128 (GRCh38)
8:23290641 (GRCh37)
Canonical SPDI:: NC_000008.11:23433127:G:T
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
T=0.000495/8 (TOMMO)
HGVS:: NC_000008.11:g.23433128G>T, NC_000008.10:g.23290641G>T, NG_030021.1:g.29604C>A, NM_004901.5:c.1649C>A, NM_004901.4:c.1649C>A, NM_001128930.3:c.1625C>A, NM_001128930.2:c.1625C>A, NP_004892.1:p.Ala550Asp, NP_001122402.1:p.Ala542Asp

Select item 14829132568.

rs1482913256 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGC>- [Show Flanks]
Chromosome:: 8:23432983 (GRCh38)
8:23290496 (GRCh37)
Canonical SPDI:: NC_000008.11:23432976:GGCGGCGGC:GGCGGC
Gene:: ENTPD4 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GGCGGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.23432977GGC[2], NC_000008.10:g.23290490GGC[2], NG_030021.1:g.29747GCC[2], NM_004901.5:c.1792GCC[2], NM_004901.4:c.1792GCC[2], NM_001128930.3:c.1768GCC[2], NM_001128930.2:c.1768GCC[2], NP_004892.1:p.Ala600del, NP_001122402.1:p.Ala592del

Select item 14816781939.

rs1481678193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:23447861 (GRCh38)
8:23305374 (GRCh37)
Canonical SPDI:: NC_000008.11:23447860:A:T
Gene:: ENTPD4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.23447861A>T, NC_000008.10:g.23305374A>T, NG_030021.1:g.14871T>A, NM_004901.5:c.231T>A, NM_004901.4:c.231T>A, NM_001128930.3:c.231T>A, NM_001128930.2:c.231T>A

Select item 147895396910.

rs1478953969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:23444604 (GRCh38)
8:23302117 (GRCh37)
Canonical SPDI:: NC_000008.11:23444603:T:C
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.23444604T>C, NC_000008.10:g.23302117T>C, NG_030021.1:g.18128A>G, NM_004901.5:c.415A>G, NM_004901.4:c.415A>G, NM_001128930.3:c.415A>G, NM_001128930.2:c.415A>G, NP_004892.1:p.Ile139Val, NP_001122402.1:p.Ile139Val

Select item 147821319211.

rs1478213192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:23441679 (GRCh38)
8:23299192 (GRCh37)
Canonical SPDI:: NC_000008.11:23441678:T:C,NC_000008.11:23441678:T:G
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.23441679T>C, NC_000008.11:g.23441679T>G, NC_000008.10:g.23299192T>C, NC_000008.10:g.23299192T>G, NG_030021.1:g.21053A>G, NG_030021.1:g.21053A>C, NM_004901.5:c.772A>G, NM_004901.5:c.772A>C, NM_004901.4:c.772A>G, NM_004901.4:c.772A>C, NM_001128930.3:c.772A>G, NM_001128930.3:c.772A>C, NM_001128930.2:c.772A>G, NM_001128930.2:c.772A>C, NP_004892.1:p.Ser258Gly, NP_004892.1:p.Ser258Arg, NP_001122402.1:p.Ser258Gly, NP_001122402.1:p.Ser258Arg

Select item 147817046912.

rs1478170469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:23439870 (GRCh38)
8:23297383 (GRCh37)
Canonical SPDI:: NC_000008.11:23439869:C:T
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.23439870C>T, NC_000008.10:g.23297383C>T, NG_030021.1:g.22862G>A, NM_004901.5:c.928G>A, NM_004901.4:c.928G>A, NM_001128930.3:c.904G>A, NM_001128930.2:c.904G>A, NP_004892.1:p.Asp310Asn, NP_001122402.1:p.Asp302Asn

Select item 147657787113.

rs1476577871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:23443880 (GRCh38)
8:23301393 (GRCh37)
Canonical SPDI:: NC_000008.11:23443879:G:A,NC_000008.11:23443879:G:T
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.23443880G>A, NC_000008.11:g.23443880G>T, NC_000008.10:g.23301393G>A, NC_000008.10:g.23301393G>T, NG_030021.1:g.18852C>T, NG_030021.1:g.18852C>A, NM_004901.5:c.637C>T, NM_004901.5:c.637C>A, NM_004901.4:c.637C>T, NM_004901.4:c.637C>A, NM_001128930.3:c.637C>T, NM_001128930.3:c.637C>A, NM_001128930.2:c.637C>T, NM_001128930.2:c.637C>A, NP_004892.1:p.His213Tyr, NP_004892.1:p.His213Asn, NP_001122402.1:p.His213Tyr, NP_001122402.1:p.His213Asn

Select item 147610970714.

rs1476109707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:23444465 (GRCh38)
8:23301978 (GRCh37)
Canonical SPDI:: NC_000008.11:23444464:A:T
Gene:: ENTPD4 (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_000008.11:g.23444465A>T, NC_000008.10:g.23301978A>T, NG_030021.1:g.18267T>A, NM_004901.5:c.554T>A, NM_004901.4:c.554T>A, NM_001128930.3:c.554T>A, NM_001128930.2:c.554T>A, NP_004892.1:p.Leu185His, NP_001122402.1:p.Leu185His

Select item 147521410715.

rs1475214107 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:23437256 (GRCh38)
8:23294769 (GRCh37)
Canonical SPDI:: NC_000008.11:23437255:A:G
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000008.11:g.23437256A>G, NC_000008.10:g.23294769A>G, NG_030021.1:g.25476T>C, NM_004901.5:c.1052T>C, NM_004901.4:c.1052T>C, NM_001128930.3:c.1028T>C, NM_001128930.2:c.1028T>C, NP_004892.1:p.Leu351Pro, NP_001122402.1:p.Leu343Pro

Select item 147516662316.

rs1475166623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23444583 (GRCh38)
8:23302096 (GRCh37)
Canonical SPDI:: NC_000008.11:23444582:G:A
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.23444583G>A, NC_000008.10:g.23302096G>A, NG_030021.1:g.18149C>T, NM_004901.5:c.436C>T, NM_004901.4:c.436C>T, NM_001128930.3:c.436C>T, NM_001128930.2:c.436C>T, NP_004892.1:p.Pro146Ser, NP_001122402.1:p.Pro146Ser

Select item 147489873117.

rs1474898731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23434425 (GRCh38)
8:23291938 (GRCh37)
Canonical SPDI:: NC_000008.11:23434424:G:A
Gene:: ENTPD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.23434425G>A, NC_000008.10:g.23291938G>A, NG_030021.1:g.28307C>T, NM_004901.5:c.1514C>T, NM_004901.4:c.1514C>T, NM_001128930.3:c.1490C>T, NM_001128930.2:c.1490C>T, NP_004892.1:p.Ser505Leu, NP_001122402.1:p.Ser497Leu

Select item 147230222818.

rs1472302228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:23447698 (GRCh38)
8:23305211 (GRCh37)
Canonical SPDI:: NC_000008.11:23447697:C:T
Gene:: ENTPD4 (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=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.23447698C>T, NC_000008.10:g.23305211C>T, NG_030021.1:g.15034G>A, NM_004901.5:c.394G>A, NM_004901.4:c.394G>A, NM_001128930.3:c.394G>A, NM_001128930.2:c.394G>A, NP_004892.1:p.Val132Ile, NP_001122402.1:p.Val132Ile

Select item 147188724719.

rs1471887247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:23448914 (GRCh38)
8:23306427 (GRCh37)
Canonical SPDI:: NC_000008.11:23448913:C:T
Gene:: ENTPD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000026/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.23448914C>T, NC_000008.10:g.23306427C>T, NG_030021.1:g.13818G>A, NM_004901.5:c.34G>A, NM_004901.4:c.34G>A, NM_001128930.3:c.34G>A, NM_001128930.2:c.34G>A, NP_004892.1:p.Ala12Thr, NP_001122402.1:p.Ala12Thr

Select item 147104479420.

rs1471044794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:23441690 (GRCh38)
8:23299203 (GRCh37)
Canonical SPDI:: NC_000008.11:23441689:C:T
Gene:: ENTPD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.23441690C>T, NC_000008.10:g.23299203C>T, NG_030021.1:g.21042G>A, NM_004901.5:c.761G>A, NM_004901.4:c.761G>A, NM_001128930.3:c.761G>A, NM_001128930.2:c.761G>A, NP_004892.1:p.Gly254Glu, NP_001122402.1:p.Gly254Glu

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