SNP Links for Nucleotide (Select 332078498) - SNP - NCBI

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Links from Nucleotide

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Select item 14907773601.

rs1490777360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:65616295 (GRCh38)
14:66083013 (GRCh37)
Canonical SPDI:: NC_000014.9:65616294:A:G
Gene:: FUT8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.65616295A>G, NC_000014.8:g.66083013A>G, NM_004480.4:c.-86A>G, NM_178155.3:c.404A>G, NM_178155.2:c.404A>G, XM_017021138.2:c.404A>G, XM_017021138.1:c.404A>G, NM_178156.2:c.404A>G, NR_038170.2:n.1214A>G, XM_047431180.1:c.404A>G, XM_047431178.1:c.404A>G, XM_047431177.1:c.404A>G, XM_047431181.1:c.404A>G, NR_038167.1:n.2131A>G, XM_047431179.1:c.404A>G, NR_038170.1:n.1214A>G, NM_001371533.1:c.404A>G, NM_001371536.1:c.404A>G, NM_001371534.1:c.404A>G, NM_178154.1:c.404A>G, NP_835368.1:p.Lys135Arg, XP_016876627.1:p.Lys135Arg, NP_835369.1:p.Lys135Arg, XP_047287136.1:p.Lys135Arg, XP_047287134.1:p.Lys135Arg, XP_047287133.1:p.Lys135Arg, XP_047287137.1:p.Lys135Arg, XP_047287135.1:p.Lys135Arg, NP_001358462.1:p.Lys135Arg, NP_001358465.1:p.Lys135Arg, NP_001358463.1:p.Lys135Arg

Select item 14903800882.

rs1490380088 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGAGCAGGTGAT>- [Show Flanks]
Chromosome:: 14:65629532 (GRCh38)
14:66096250 (GRCh37)
Canonical SPDI:: NC_000014.9:65629528:GATGGAGCAGGTGAT:GAT
Gene:: FUT8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.65629532_65629543del, NC_000014.8:g.66096250_66096261del, NM_004480.4:c.34_45del, NM_178155.3:c.523_534del, NM_178155.2:c.523_534del, XM_017021138.2:c.625_636del, XM_017021138.1:c.625_636del, NM_178156.2:c.523_534del, NR_038170.2:n.1333_1344del, XM_047431180.1:c.625_636del, XM_047431178.1:c.625_636del, XM_047431177.1:c.625_636del, XM_047431181.1:c.523_534del, NR_038167.1:n.2250_2261del, XM_047431179.1:c.625_636del, NR_038170.1:n.1333_1344del, NM_001371533.1:c.523_534del, NM_001371536.1:c.625_636del, NM_001371534.1:c.523_534del, NM_178154.1:c.523_534del, NP_004471.4:p.Gly12_Asp15del, NP_835368.1:p.Gly175_Asp178del, XP_016876627.1:p.Gly209_Asp212del, NP_835369.1:p.Gly175_Asp178del, XP_047287136.1:p.Gly209_Asp212del, XP_047287134.1:p.Gly209_Asp212del, XP_047287133.1:p.Gly209_Asp212del, XP_047287137.1:p.Gly175_Asp178del, XP_047287135.1:p.Gly209_Asp212del, NP_001358462.1:p.Gly175_Asp178del, NP_001358465.1:p.Gly209_Asp212del, NP_001358463.1:p.Gly175_Asp178del

Select item 14885213633.

rs1488521363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:65410947 (GRCh38)
14:65877665 (GRCh37)
Canonical SPDI:: NC_000014.9:65410946:A:T
Gene:: FUT8 (Varview), FUT8-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.65410947A>T, NC_000014.8:g.65877665A>T, NM_004480.4:c.-1431A>T, XM_017021138.2:c.-1274A>T, NM_178155.2:c.-1372A>T, NM_178156.2:c.-1274A>T, XM_047431177.1:c.-1436A>T, XM_047431181.1:c.-1436A>T, NR_038167.1:n.356A>T, NR_024334.1:n.1671T>A

Select item 14870197004.

rs1487019700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:65742173 (GRCh38)
14:66208891 (GRCh37)
Canonical SPDI:: NC_000014.9:65742172:C:T
Gene:: FUT8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000014.9:g.65742173C>T, NC_000014.8:g.66208891C>T, NM_004480.4:c.1002C>T, NM_178155.3:c.1491C>T, NM_178155.2:c.1491C>T, XM_017021138.2:c.1593C>T, XM_017021138.1:c.1593C>T, NM_178156.2:c.1491C>T, NR_038170.2:n.2301C>T, XM_047431180.1:c.1593C>T, XM_047431178.1:c.1593C>T, XM_047431177.1:c.1593C>T, XM_047431181.1:c.1491C>T, NR_038167.1:n.2794C>T, XM_047431179.1:c.1593C>T, NR_038170.1:n.2301C>T, NM_001371533.1:c.1491C>T, NM_001371536.1:c.1593C>T, NM_001371534.1:c.1491C>T, NM_178154.1:c.1491C>T, NM_178157.1:c.273C>T

Select item 14866157475.

rs1486615747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:65411577 (GRCh38)
14:65878295 (GRCh37)
Canonical SPDI:: NC_000014.9:65411576:C:A,NC_000014.9:65411576:C:T
Gene:: FUT8 (Varview), FUT8-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.65411577C>A, NC_000014.9:g.65411577C>T, NC_000014.8:g.65878295C>A, NC_000014.8:g.65878295C>T, NM_004480.4:c.-801C>A, NM_004480.4:c.-801C>T, XM_017021138.2:c.-644C>A, XM_017021138.2:c.-644C>T, NM_178155.2:c.-742C>A, NM_178155.2:c.-742C>T, NM_178156.2:c.-644C>A, NM_178156.2:c.-644C>T, XM_047431177.1:c.-806C>A, XM_047431177.1:c.-806C>T, XM_047431181.1:c.-806C>A, XM_047431181.1:c.-806C>T, NR_038167.1:n.986C>A, NR_038167.1:n.986C>T, NR_024334.1:n.1041G>T, NR_024334.1:n.1041G>A

Select item 14852015316.

rs1485201531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:65742174 (GRCh38)
14:66208892 (GRCh37)
Canonical SPDI:: NC_000014.9:65742173:T:A
Gene:: FUT8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.65742174T>A, NC_000014.8:g.66208892T>A, NM_004480.4:c.1003T>A, NM_178155.3:c.1492T>A, NM_178155.2:c.1492T>A, XM_017021138.2:c.1594T>A, XM_017021138.1:c.1594T>A, NM_178156.2:c.1492T>A, NR_038170.2:n.2302T>A, XM_047431180.1:c.1594T>A, XM_047431178.1:c.1594T>A, XM_047431177.1:c.1594T>A, XM_047431181.1:c.1492T>A, NR_038167.1:n.2795T>A, XM_047431179.1:c.1594T>A, NR_038170.1:n.2302T>A, NM_001371533.1:c.1492T>A, NM_001371536.1:c.1594T>A, NM_001371534.1:c.1492T>A, NM_178154.1:c.1492T>A, NM_178157.1:c.274T>A, NP_004471.4:p.Tyr335Asn, NP_835368.1:p.Tyr498Asn, XP_016876627.1:p.Tyr532Asn, NP_835369.1:p.Tyr498Asn, XP_047287136.1:p.Tyr532Asn, XP_047287134.1:p.Tyr532Asn, XP_047287133.1:p.Tyr532Asn, XP_047287137.1:p.Tyr498Asn, XP_047287135.1:p.Tyr532Asn, NP_001358462.1:p.Tyr498Asn, NP_001358465.1:p.Tyr532Asn, NP_001358463.1:p.Tyr498Asn

Select item 14848060217.

rs1484806021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:65411324 (GRCh38)
14:65878042 (GRCh37)
Canonical SPDI:: NC_000014.9:65411323:G:A
Gene:: FUT8 (Varview), FUT8-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.65411324G>A, NC_000014.8:g.65878042G>A, NM_004480.4:c.-1054G>A, XM_017021138.2:c.-897G>A, NM_178155.2:c.-995G>A, NM_178156.2:c.-897G>A, XM_047431177.1:c.-1059G>A, XM_047431181.1:c.-1059G>A, NR_038167.1:n.733G>A, NR_024334.1:n.1294C>T

Select item 14847597288.

rs1484759728 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:65744024 (GRCh38)
14:66210742 (GRCh37)
Canonical SPDI:: NC_000014.9:65744023:A:G
Gene:: FUT8 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.65744024A>G, NC_000014.8:g.66210742A>G, NM_004480.4:c.*1614A>G, NM_178155.3:c.*1614A>G, NM_178155.2:c.*1614A>G, XM_017021138.2:c.*1614A>G, XM_017021138.1:c.*1614A>G, NM_178156.2:c.*1614A>G, NR_038170.2:n.4152A>G, XM_047431180.1:c.*1614A>G, XM_047431178.1:c.*1614A>G, XM_047431177.1:c.*1614A>G, XM_047431181.1:c.*1614A>G, NR_038167.1:n.4645A>G, XM_047431179.1:c.*1614A>G, NR_038170.1:n.4152A>G, NM_001371533.1:c.*1614A>G, NM_001371536.1:c.*1614A>G, NM_001371534.1:c.*1614A>G

Select item 14836185149.

rs1483618514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:65561542 (GRCh38)
14:66028260 (GRCh37)
Canonical SPDI:: NC_000014.9:65561541:G:T
Gene:: FUT8 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.65561542G>T, NC_000014.8:g.66028260G>T, NM_178155.3:c.-22G>T, NM_178155.2:c.-22G>T, XM_017021138.2:c.-22G>T, XM_017021138.1:c.-22G>T, NM_178156.2:c.-22G>T, NR_038170.2:n.789G>T, XM_047431180.1:c.-22G>T, XM_047431178.1:c.-22G>T, XM_047431177.1:c.-22G>T, XM_047431181.1:c.-22G>T, NR_038167.1:n.1706G>T, XM_047431179.1:c.-22G>T, NR_038170.1:n.789G>T, NM_001371533.1:c.-22G>T, NM_001371536.1:c.-22G>T, NM_001371534.1:c.-22G>T, NM_178154.1:c.-22G>T

Select item 148334436810.

rs1483344368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:65410728 (GRCh38)
14:65877446 (GRCh37)
Canonical SPDI:: NC_000014.9:65410727:G:A
Gene:: FUT8 (Varview), FUT8-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.65410728G>A, NC_000014.8:g.65877446G>A, NM_004480.4:c.-1650G>A, XM_017021138.2:c.-1493G>A, NM_178155.2:c.-1591G>A, NM_178156.2:c.-1493G>A, XM_047431177.1:c.-1655G>A, XM_047431181.1:c.-1655G>A, NR_038167.1:n.137G>A, NR_024334.1:n.1890C>T

Select item 148242403211.

rs1482424032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:65742970 (GRCh38)
14:66209688 (GRCh37)
Canonical SPDI:: NC_000014.9:65742969:A:T
Gene:: FUT8 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.002/9 (ALFA)
T=0.0018/8 (Estonian)
HGVS:: NC_000014.9:g.65742970A>T, NC_000014.8:g.66209688A>T, NM_004480.4:c.*560A>T, NM_178155.3:c.*560A>T, NM_178155.2:c.*560A>T, XM_017021138.2:c.*560A>T, XM_017021138.1:c.*560A>T, NM_178156.2:c.*560A>T, NR_038170.2:n.3098A>T, XM_047431180.1:c.*560A>T, XM_047431178.1:c.*560A>T, XM_047431177.1:c.*560A>T, XM_047431181.1:c.*560A>T, NR_038167.1:n.3591A>T, XM_047431179.1:c.*560A>T, NR_038170.1:n.3098A>T, NM_001371533.1:c.*560A>T, NM_001371536.1:c.*560A>T, NM_001371534.1:c.*560A>T, NM_178154.1:c.*560A>T, NM_178157.1:c.*560A>T

Select item 148156744112.

rs1481567441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:65616216 (GRCh38)
14:66082934 (GRCh37)
Canonical SPDI:: NC_000014.9:65616215:G:C
Gene:: FUT8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.65616216G>C, NC_000014.8:g.66082934G>C, NM_004480.4:c.-165G>C, NM_178155.3:c.325G>C, NM_178155.2:c.325G>C, XM_017021138.2:c.325G>C, XM_017021138.1:c.325G>C, NM_178156.2:c.325G>C, NR_038170.2:n.1135G>C, XM_047431180.1:c.325G>C, XM_047431178.1:c.325G>C, XM_047431177.1:c.325G>C, XM_047431181.1:c.325G>C, NR_038167.1:n.2052G>C, XM_047431179.1:c.325G>C, NR_038170.1:n.1135G>C, NM_001371533.1:c.325G>C, NM_001371536.1:c.325G>C, NM_001371534.1:c.325G>C, NM_178154.1:c.325G>C, NP_835368.1:p.Gly109Arg, XP_016876627.1:p.Gly109Arg, NP_835369.1:p.Gly109Arg, XP_047287136.1:p.Gly109Arg, XP_047287134.1:p.Gly109Arg, XP_047287133.1:p.Gly109Arg, XP_047287137.1:p.Gly109Arg, XP_047287135.1:p.Gly109Arg, NP_001358462.1:p.Gly109Arg, NP_001358465.1:p.Gly109Arg, NP_001358463.1:p.Gly109Arg

Select item 148142342613.

rs1481423426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:65669347 (GRCh38)
14:66136065 (GRCh37)
Canonical SPDI:: NC_000014.9:65669346:A:G
Gene:: FUT8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.65669347A>G, NC_000014.8:g.66136065A>G, NM_004480.4:c.213A>G, NM_178155.3:c.702A>G, NM_178155.2:c.702A>G, XM_017021138.2:c.804A>G, XM_017021138.1:c.804A>G, NM_178156.2:c.702A>G, NR_038170.2:n.1512A>G, XM_047431180.1:c.804A>G, XM_047431178.1:c.804A>G, XM_047431177.1:c.804A>G, XM_047431181.1:c.702A>G, NR_038167.1:n.2429A>G, XM_047431179.1:c.804A>G, NR_038170.1:n.1512A>G, NM_001371533.1:c.702A>G, NM_001371536.1:c.804A>G, NM_001371534.1:c.702A>G, NM_178154.1:c.702A>G

Select item 148083737414.

rs1480837374 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:65743546 (GRCh38)
14:66210264 (GRCh37)
Canonical SPDI:: NC_000014.9:65743545:A:G
Gene:: FUT8 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000014.9:g.65743546A>G, NC_000014.8:g.66210264A>G, NM_004480.4:c.*1136A>G, NM_178155.3:c.*1136A>G, NM_178155.2:c.*1136A>G, XM_017021138.2:c.*1136A>G, XM_017021138.1:c.*1136A>G, NM_178156.2:c.*1136A>G, NR_038170.2:n.3674A>G, XM_047431180.1:c.*1136A>G, XM_047431178.1:c.*1136A>G, XM_047431177.1:c.*1136A>G, XM_047431181.1:c.*1136A>G, NR_038167.1:n.4167A>G, XM_047431179.1:c.*1136A>G, NR_038170.1:n.3674A>G, NM_001371533.1:c.*1136A>G, NM_001371536.1:c.*1136A>G, NM_001371534.1:c.*1136A>G

Select item 148020560515.

rs1480205605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:65669314 (GRCh38)
14:66136032 (GRCh37)
Canonical SPDI:: NC_000014.9:65669313:G:A
Gene:: FUT8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.00014/2 (TOMMO)
A=0.00034/1 (KOREAN)
HGVS:: NC_000014.9:g.65669314G>A, NC_000014.8:g.66136032G>A, NM_004480.4:c.180G>A, NM_178155.3:c.669G>A, NM_178155.2:c.669G>A, XM_017021138.2:c.771G>A, XM_017021138.1:c.771G>A, NM_178156.2:c.669G>A, NR_038170.2:n.1479G>A, XM_047431180.1:c.771G>A, XM_047431178.1:c.771G>A, XM_047431177.1:c.771G>A, XM_047431181.1:c.669G>A, NR_038167.1:n.2396G>A, XM_047431179.1:c.771G>A, NR_038170.1:n.1479G>A, NM_001371533.1:c.669G>A, NM_001371536.1:c.771G>A, NM_001371534.1:c.669G>A, NM_178154.1:c.669G>A

Select item 147769815616.

rs1477698156 [Homo sapiens]

Variant type:: DEL
Alleles:: ATCTCCTTT>- [Show Flanks]
Chromosome:: 14:65411568 (GRCh38)
14:65878286 (GRCh37)
Canonical SPDI:: NC_000014.9:65411567:ATCTCCTTT:
Gene:: FUT8 (Varview), FUT8-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.65411568_65411576del, NC_000014.8:g.65878286_65878294del, NM_004480.4:c.-810_-802del, XM_017021138.2:c.-653_-645del, NM_178155.2:c.-751_-743del, NM_178156.2:c.-653_-645del, XM_047431177.1:c.-815_-807del, XM_047431181.1:c.-815_-807del, NR_038167.1:n.977_985del, NR_024334.1:n.1042_1050del

Select item 147766581617.

rs1477665816 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 14:65561501 (GRCh38)
14:66028219 (GRCh37)
Canonical SPDI:: NC_000014.9:65561500:A:
Gene:: FUT8 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.65561501del, NC_000014.8:g.66028219del, NM_178155.3:c.-63del, NM_178155.2:c.-63del, XM_017021138.2:c.-63del, XM_017021138.1:c.-63del, NM_178156.2:c.-63del, NR_038170.2:n.748del, XM_047431180.1:c.-63del, XM_047431178.1:c.-63del, XM_047431177.1:c.-63del, XM_047431181.1:c.-63del, NR_038167.1:n.1665del, XM_047431179.1:c.-63del, NR_038170.1:n.748del, NM_001371533.1:c.-63del, NM_001371536.1:c.-63del, NM_001371534.1:c.-63del, NM_178154.1:c.-63del

Select item 147724117518.

rs1477241175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:65561684 (GRCh38)
14:66028402 (GRCh37)
Canonical SPDI:: NC_000014.9:65561683:C:T
Gene:: FUT8 (Varview)
Functional Consequence:: stop_gained,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.65561684C>T, NC_000014.8:g.66028402C>T, NM_178155.3:c.121C>T, NM_178155.2:c.121C>T, XM_017021138.2:c.121C>T, XM_017021138.1:c.121C>T, NM_178156.2:c.121C>T, NR_038170.2:n.931C>T, XM_047431180.1:c.121C>T, XM_047431178.1:c.121C>T, XM_047431177.1:c.121C>T, XM_047431181.1:c.121C>T, NR_038167.1:n.1848C>T, XM_047431179.1:c.121C>T, NR_038170.1:n.931C>T, NM_001371533.1:c.121C>T, NM_001371536.1:c.121C>T, NM_001371534.1:c.121C>T, NM_178154.1:c.121C>T, NP_835368.1:p.Arg41Ter, XP_016876627.1:p.Arg41Ter, NP_835369.1:p.Arg41Ter, XP_047287136.1:p.Arg41Ter, XP_047287134.1:p.Arg41Ter, XP_047287133.1:p.Arg41Ter, XP_047287137.1:p.Arg41Ter, XP_047287135.1:p.Arg41Ter, NP_001358462.1:p.Arg41Ter, NP_001358465.1:p.Arg41Ter, NP_001358463.1:p.Arg41Ter

Select item 147633253719.

rs1476332537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:65742699 (GRCh38)
14:66209417 (GRCh37)
Canonical SPDI:: NC_000014.9:65742698:A:T
Gene:: FUT8 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000014.9:g.65742699A>T, NC_000014.8:g.66209417A>T, NM_004480.4:c.*289A>T, NM_178155.3:c.*289A>T, NM_178155.2:c.*289A>T, XM_017021138.2:c.*289A>T, XM_017021138.1:c.*289A>T, NM_178156.2:c.*289A>T, NR_038170.2:n.2827A>T, XM_047431180.1:c.*289A>T, XM_047431178.1:c.*289A>T, XM_047431177.1:c.*289A>T, XM_047431181.1:c.*289A>T, NR_038167.1:n.3320A>T, XM_047431179.1:c.*289A>T, NR_038170.1:n.2827A>T, NM_001371533.1:c.*289A>T, NM_001371536.1:c.*289A>T, NM_001371534.1:c.*289A>T, NM_178154.1:c.*289A>T, NM_178157.1:c.*289A>T

Select item 147517759220.

rs1475177592 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:65742688 (GRCh38)
14:66209406 (GRCh37)
Canonical SPDI:: NC_000014.9:65742687:A:G,NC_000014.9:65742687:A:T
Gene:: FUT8 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.65742688A>G, NC_000014.9:g.65742688A>T, NC_000014.8:g.66209406A>G, NC_000014.8:g.66209406A>T, NM_004480.4:c.*278A>G, NM_004480.4:c.*278A>T, NM_178155.3:c.*278A>G, NM_178155.3:c.*278A>T, NM_178155.2:c.*278A>G, NM_178155.2:c.*278A>T, XM_017021138.2:c.*278A>G, XM_017021138.2:c.*278A>T, XM_017021138.1:c.*278A>G, XM_017021138.1:c.*278A>T, NM_178156.2:c.*278A>G, NM_178156.2:c.*278A>T, NR_038170.2:n.2816A>G, NR_038170.2:n.2816A>T, XM_047431180.1:c.*278A>G, XM_047431180.1:c.*278A>T, XM_047431178.1:c.*278A>G, XM_047431178.1:c.*278A>T, XM_047431177.1:c.*278A>G, XM_047431177.1:c.*278A>T, XM_047431181.1:c.*278A>G, XM_047431181.1:c.*278A>T, NR_038167.1:n.3309A>G, NR_038167.1:n.3309A>T, XM_047431179.1:c.*278A>G, XM_047431179.1:c.*278A>T, NR_038170.1:n.2816A>G, NR_038170.1:n.2816A>T, NM_001371533.1:c.*278A>G, NM_001371533.1:c.*278A>T, NM_001371536.1:c.*278A>G, NM_001371536.1:c.*278A>T, NM_001371534.1:c.*278A>G, NM_001371534.1:c.*278A>T, NM_178154.1:c.*278A>G, NM_178154.1:c.*278A>T, NM_178157.1:c.*278A>G, NM_178157.1:c.*278A>T

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