SNP Links for Protein (Select 1171343233) - SNP

Links from Protein

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Select item 14869408961.

rs1486940896 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGTGGGGC>- [Show Flanks]
Chromosome:: 10:99698666 (GRCh38)
10:101458423 (GRCh37)
Canonical SPDI:: NC_000010.11:99698664:CTTGTGGGGC:C
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99698666_99698674del, NC_000010.10:g.101458423_101458431del, NG_053079.1:g.44290_44298del, NM_020354.5:c.1143_1151del, NM_020354.4:c.1143_1151del, NM_020354.3:c.1143_1151del, NM_001349962.2:c.1149_1157del, NM_001349962.1:c.1149_1157del, NM_001349963.2:c.1143_1151del, NM_001349963.1:c.1143_1151del, NP_065087.1:p.Cys382_Ala384del, NP_001336891.1:p.Cys384_Ala386del, NP_001336892.1:p.Cys382_Ala384del

Select item 14847432922.

rs1484743292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:99661495 (GRCh38)
10:101421252 (GRCh37)
Canonical SPDI:: NC_000010.11:99661494:A:G
Gene:: ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.99661495A>G, NC_000010.10:g.101421252A>G, NG_053079.1:g.7119A>G, NM_020354.5:c.58A>G, NM_020354.4:c.58A>G, NM_020354.3:c.58A>G, NM_001349962.2:c.64A>G, NM_001349962.1:c.64A>G, NM_001349963.2:c.58A>G, NM_001349963.1:c.58A>G, NP_065087.1:p.Thr20Ala, NP_001336891.1:p.Thr22Ala, NP_001336892.1:p.Thr20Ala

Select item 14836324283.

rs1483632428 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:99702547 (GRCh38)
10:101462304 (GRCh37)
Canonical SPDI:: NC_000010.11:99702546:T:A
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99702547T>A, NC_000010.10:g.101462304T>A, NG_053079.1:g.48171T>A, NM_020354.5:c.1457T>A, NM_020354.4:c.1457T>A, NM_020354.3:c.1457T>A, NM_001349962.2:c.1463T>A, NM_001349962.1:c.1463T>A, NM_001349963.2:c.1457T>A, NM_001349963.1:c.1457T>A, NP_065087.1:p.Val486Asp, NP_001336891.1:p.Val488Asp, NP_001336892.1:p.Val486Asp

Select item 14833025794.

rs1483302579 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:99691448 (GRCh38)
10:101451205 (GRCh37)
Canonical SPDI:: NC_000010.11:99691447:A:G
Gene:: ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.99691448A>G, NC_000010.10:g.101451205A>G, NG_053079.1:g.37072A>G, NM_020354.5:c.773A>G, NM_020354.4:c.773A>G, NM_020354.3:c.773A>G, NM_001349962.2:c.779A>G, NM_001349962.1:c.779A>G, NM_001349963.2:c.773A>G, NM_001349963.1:c.773A>G, NP_065087.1:p.Asp258Gly, NP_001336891.1:p.Asp260Gly, NP_001336892.1:p.Asp258Gly

Select item 14826376515.

rs1482637651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:99704657 (GRCh38)
10:101464414 (GRCh37)
Canonical SPDI:: NC_000010.11:99704656:A:G
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.99704657A>G, NC_000010.10:g.101464414A>G, NG_053079.1:g.50281A>G, NM_020354.5:c.1789A>G, NM_020354.4:c.1789A>G, NM_020354.3:c.1789A>G, NM_001349962.2:c.1795A>G, NM_001349962.1:c.1795A>G, NM_001349963.2:c.1789A>G, NM_001349963.1:c.1789A>G, NP_065087.1:p.Met597Val, NP_001336891.1:p.Met599Val, NP_001336892.1:p.Met597Val

Select item 14811916086.

rs1481191608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:99685796 (GRCh38)
10:101445553 (GRCh37)
Canonical SPDI:: NC_000010.11:99685795:C:T
Gene:: ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99685796C>T, NC_000010.10:g.101445553C>T, NG_053079.1:g.31420C>T, NM_020354.5:c.553C>T, NM_020354.4:c.553C>T, NM_020354.3:c.553C>T, NM_001349962.2:c.559C>T, NM_001349962.1:c.559C>T, NM_001349963.2:c.553C>T, NM_001349963.1:c.553C>T, NP_065087.1:p.Gln185Ter, NP_001336891.1:p.Gln187Ter, NP_001336892.1:p.Gln185Ter

Select item 14802978177.

rs1480297817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:99679407 (GRCh38)
10:101439164 (GRCh37)
Canonical SPDI:: NC_000010.11:99679406:T:C
Gene:: ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.99679407T>C, NC_000010.10:g.101439164T>C, NG_053079.1:g.25031T>C, NM_020354.5:c.338T>C, NM_020354.4:c.338T>C, NM_020354.3:c.338T>C, NM_001349962.2:c.344T>C, NM_001349962.1:c.344T>C, NM_001349963.2:c.338T>C, NM_001349963.1:c.338T>C, NP_065087.1:p.Leu113Pro, NP_001336891.1:p.Leu115Pro, NP_001336892.1:p.Leu113Pro

Select item 14733442538.

rs1473344253 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACC>- [Show Flanks]
Chromosome:: 10:99704598 (GRCh38)
10:101464355 (GRCh37)
Canonical SPDI:: NC_000010.11:99704593:CACCACC:CACC
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99704595ACC[1], NC_000010.10:g.101464352ACC[1], NG_053079.1:g.50219ACC[1], NM_020354.5:c.1727ACC[1], NM_020354.4:c.1727ACC[1], NM_020354.3:c.1727ACC[1], NM_001349962.2:c.1733ACC[1], NM_001349962.1:c.1733ACC[1], NM_001349963.2:c.1727ACC[1], NM_001349963.1:c.1727ACC[1], NP_065087.1:p.His577del, NP_001336891.1:p.His579del, NP_001336892.1:p.His577del

Select item 14714449349.

rs1471444934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:99704543 (GRCh38)
10:101464300 (GRCh37)
Canonical SPDI:: NC_000010.11:99704542:C:T
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99704543C>T, NC_000010.10:g.101464300C>T, NG_053079.1:g.50167C>T, NM_020354.5:c.1675C>T, NM_020354.4:c.1675C>T, NM_020354.3:c.1675C>T, NM_001349962.2:c.1681C>T, NM_001349962.1:c.1681C>T, NM_001349963.2:c.1675C>T, NM_001349963.1:c.1675C>T

Select item 146582711610.

rs1465827116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:99702592 (GRCh38)
10:101462349 (GRCh37)
Canonical SPDI:: NC_000010.11:99702591:G:A
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/7 (GnomAD)
A=0.000064/17 (TOPMED)
HGVS:: NC_000010.11:g.99702592G>A, NC_000010.10:g.101462349G>A, NG_053079.1:g.48216G>A, NM_020354.5:c.1502G>A, NM_020354.4:c.1502G>A, NM_020354.3:c.1502G>A, NM_001349962.2:c.1508G>A, NM_001349962.1:c.1508G>A, NM_001349963.2:c.1502G>A, NM_001349963.1:c.1502G>A, NP_065087.1:p.Arg501Gln, NP_001336891.1:p.Arg503Gln, NP_001336892.1:p.Arg501Gln

Select item 146457899911.

rs1464578999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:99704548 (GRCh38)
10:101464305 (GRCh37)
Canonical SPDI:: NC_000010.11:99704547:G:T
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.99704548G>T, NC_000010.10:g.101464305G>T, NG_053079.1:g.50172G>T, NM_020354.5:c.1680G>T, NM_020354.4:c.1680G>T, NM_020354.3:c.1680G>T, NM_001349962.2:c.1686G>T, NM_001349962.1:c.1686G>T, NM_001349963.2:c.1680G>T, NM_001349963.1:c.1680G>T

Select item 146412209412.

rs1464122094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:99696012 (GRCh38)
10:101455769 (GRCh37)
Canonical SPDI:: NC_000010.11:99696011:C:T
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.99696012C>T, NC_000010.10:g.101455769C>T, NG_053079.1:g.41636C>T, NM_020354.5:c.900C>T, NM_020354.4:c.900C>T, NM_020354.3:c.900C>T, NM_001349962.2:c.906C>T, NM_001349962.1:c.906C>T, NM_001349963.2:c.900C>T, NM_001349963.1:c.900C>T, XM_006717634.4:c.*579G>A, NM_001320974.2:c.*464G>A, NM_001320974.1:c.*464G>A

Select item 146385392313.

rs1463853923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:99701034 (GRCh38)
10:101460791 (GRCh37)
Canonical SPDI:: NC_000010.11:99701033:C:G
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.99701034C>G, NC_000010.10:g.101460791C>G, NG_053079.1:g.46658C>G, NM_020354.5:c.1397C>G, NM_020354.4:c.1397C>G, NM_020354.3:c.1397C>G, NM_001349962.2:c.1403C>G, NM_001349962.1:c.1403C>G, NM_001349963.2:c.1397C>G, NM_001349963.1:c.1397C>G, NP_065087.1:p.Ser466Ter, NP_001336891.1:p.Ser468Ter, NP_001336892.1:p.Ser466Ter

Select item 146231569314.

rs1462315693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:99698756 (GRCh38)
10:101458513 (GRCh37)
Canonical SPDI:: NC_000010.11:99698755:C:T
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000010.11:g.99698756C>T, NC_000010.10:g.101458513C>T, NG_053079.1:g.44380C>T, NM_020354.5:c.1233C>T, NM_020354.4:c.1233C>T, NM_020354.3:c.1233C>T, NM_001349962.2:c.1239C>T, NM_001349962.1:c.1239C>T, NM_001349963.2:c.1233C>T, NM_001349963.1:c.1233C>T

Select item 146212747415.

rs1462127474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:99691496 (GRCh38)
10:101451253 (GRCh37)
Canonical SPDI:: NC_000010.11:99691495:C:A
Gene:: ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.99691496C>A, NC_000010.10:g.101451253C>A, NG_053079.1:g.37120C>A, NM_020354.5:c.821C>A, NM_020354.4:c.821C>A, NM_020354.3:c.821C>A, NM_001349962.2:c.827C>A, NM_001349962.1:c.827C>A, NM_001349963.2:c.821C>A, NM_001349963.1:c.821C>A, NP_065087.1:p.Thr274Asn, NP_001336891.1:p.Thr276Asn, NP_001336892.1:p.Thr274Asn

Select item 145917710116.

rs1459177101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:99704476 (GRCh38)
10:101464233 (GRCh37)
Canonical SPDI:: NC_000010.11:99704475:A:T
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99704476A>T, NC_000010.10:g.101464233A>T, NG_053079.1:g.50100A>T, NM_020354.5:c.1608A>T, NM_020354.4:c.1608A>T, NM_020354.3:c.1608A>T, NM_001349962.2:c.1614A>T, NM_001349962.1:c.1614A>T, NM_001349963.2:c.1608A>T, NM_001349963.1:c.1608A>T

Select item 145613392017.

rs1456133920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:99704576 (GRCh38)
10:101464333 (GRCh37)
Canonical SPDI:: NC_000010.11:99704575:C:G,NC_000010.11:99704575:C:T
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000010.11:g.99704576C>G, NC_000010.11:g.99704576C>T, NC_000010.10:g.101464333C>G, NC_000010.10:g.101464333C>T, NG_053079.1:g.50200C>G, NG_053079.1:g.50200C>T, NM_020354.5:c.1708C>G, NM_020354.5:c.1708C>T, NM_020354.4:c.1708C>G, NM_020354.4:c.1708C>T, NM_020354.3:c.1708C>G, NM_020354.3:c.1708C>T, NM_001349962.2:c.1714C>G, NM_001349962.2:c.1714C>T, NM_001349962.1:c.1714C>G, NM_001349962.1:c.1714C>T, NM_001349963.2:c.1708C>G, NM_001349963.2:c.1708C>T, NM_001349963.1:c.1708C>G, NM_001349963.1:c.1708C>T, NP_065087.1:p.Leu570Val, NP_001336891.1:p.Leu572Val, NP_001336892.1:p.Leu570Val

Select item 145578914018.

rs1455789140 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAG>- [Show Flanks]
Chromosome:: 10:99691418 (GRCh38)
10:101451175 (GRCh37)
Canonical SPDI:: NC_000010.11:99691413:GCAGCAG:GCAG
Gene:: ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: GCAG=0./0 (ALFA)
HGVS:: NC_000010.11:g.99691415CAG[1], NC_000010.10:g.101451172CAG[1], NG_053079.1:g.37039CAG[1], NM_020354.5:c.740CAG[1], NM_020354.4:c.740CAG[1], NM_020354.3:c.740CAG[1], NM_001349962.2:c.746CAG[1], NM_001349962.1:c.746CAG[1], NM_001349963.2:c.740CAG[1], NM_001349963.1:c.740CAG[1], NP_065087.1:p.Ala248del, NP_001336891.1:p.Ala250del, NP_001336892.1:p.Ala248del

Select item 145453809119.

rs1454538091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:99698676 (GRCh38)
10:101458433 (GRCh37)
Canonical SPDI:: NC_000010.11:99698675:A:G
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.99698676A>G, NC_000010.10:g.101458433A>G, NG_053079.1:g.44300A>G, NM_020354.5:c.1153A>G, NM_020354.4:c.1153A>G, NM_020354.3:c.1153A>G, NM_001349962.2:c.1159A>G, NM_001349962.1:c.1159A>G, NM_001349963.2:c.1153A>G, NM_001349963.1:c.1153A>G, NP_065087.1:p.Met385Val, NP_001336891.1:p.Met387Val, NP_001336892.1:p.Met385Val

Select item 145231172020.

rs1452311720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:99679330 (GRCh38)
10:101439087 (GRCh37)
Canonical SPDI:: NC_000010.11:99679329:T:G
Gene:: ENTPD7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99679330T>G, NC_000010.10:g.101439087T>G, NG_053079.1:g.24954T>G, NM_020354.5:c.261T>G, NM_020354.4:c.261T>G, NM_020354.3:c.261T>G, NM_001349962.2:c.267T>G, NM_001349962.1:c.267T>G, NM_001349963.2:c.261T>G, NM_001349963.1:c.261T>G

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