SNP Links for Protein (Select 1054429635) - SNP

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Links from Protein

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Select item 14855664791.

rs1485566479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:69458588 (GRCh38)
14:69925305 (GRCh37)
Canonical SPDI:: NC_000014.9:69458587:C:G
Gene:: SLC39A9 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69458588C>G, NC_000014.8:g.69925305C>G, NM_018375.5:c.919C>G, NM_018375.4:c.919C>G, NM_001252148.2:c.850C>G, NM_001252148.1:c.850C>G, NM_001330185.2:c.721C>G, NM_001330185.1:c.721C>G, NM_001252151.2:c.565C>G, NM_001252151.1:c.565C>G, NM_001252152.2:c.565C>G, NM_001252152.1:c.565C>G, XM_024449648.2:c.565C>G, XM_024449648.1:c.565C>G, XM_047431550.1:c.496C>G, NP_060845.2:p.His307Asp, NP_001239077.1:p.His284Asp, NP_001317114.1:p.His241Asp, NP_001239080.1:p.His189Asp, NP_001239081.1:p.His189Asp, XP_024305416.1:p.His189Asp, XP_047287506.1:p.His166Asp

Select item 14773491622.

rs1477349162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:69454892 (GRCh38)
14:69921609 (GRCh37)
Canonical SPDI:: NC_000014.9:69454891:C:T
Gene:: SLC39A9 (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_000014.9:g.69454892C>T, NC_000014.8:g.69921609C>T, NM_018375.5:c.553C>T, NM_018375.4:c.553C>T, NM_001252148.2:c.484C>T, NM_001252148.1:c.484C>T, NM_001330185.2:c.355C>T, NM_001330185.1:c.355C>T, NM_001252151.2:c.199C>T, NM_001252151.1:c.199C>T, NM_001252152.2:c.199C>T, NM_001252152.1:c.199C>T, XM_024449648.2:c.199C>T, XM_024449648.1:c.199C>T, NM_001252150.2:c.553C>T, NM_001252150.1:c.553C>T, XM_047431550.1:c.130C>T, NP_060845.2:p.His185Tyr, NP_001239077.1:p.His162Tyr, NP_001317114.1:p.His119Tyr, NP_001239080.1:p.His67Tyr, NP_001239081.1:p.His67Tyr, XP_024305416.1:p.His67Tyr, NP_001239079.1:p.His185Tyr, XP_047287506.1:p.His44Tyr

Select item 14706796323.

rs1470679632 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:69453251 (GRCh38)
14:69919968 (GRCh37)
Canonical SPDI:: NC_000014.9:69453250:A:C
Gene:: SLC39A9 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69453251A>C, NC_000014.8:g.69919968A>C, NM_018375.5:c.414A>C, NM_018375.4:c.414A>C, NM_001330185.2:c.216A>C, NM_001330185.1:c.216A>C, NM_001252151.2:c.60A>C, NM_001252151.1:c.60A>C, NM_001252152.2:c.60A>C, NM_001252152.1:c.60A>C, XM_024449648.2:c.60A>C, XM_024449648.1:c.60A>C, NM_001252150.2:c.414A>C, NM_001252150.1:c.414A>C

Select item 14615559144.

rs1461555914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:69424196 (GRCh38)
14:69890913 (GRCh37)
Canonical SPDI:: NC_000014.9:69424195:C:T
Gene:: SLC39A9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69424196C>T, NC_000014.8:g.69890913C>T, NM_018375.5:c.199C>T, NM_018375.4:c.199C>T, NM_001252148.2:c.199C>T, NM_001252148.1:c.199C>T, NM_001330185.2:c.199C>T, NM_001330185.1:c.199C>T, NM_001252151.2:c.-156C>T, NM_001252151.1:c.-156C>T, NM_001252152.2:c.-297C>T, NM_001252152.1:c.-297C>T, XM_024449648.2:c.-156C>T, XM_024449648.1:c.-156C>T, NM_001252150.2:c.199C>T, NM_001252150.1:c.199C>T, XM_047431550.1:c.-156C>T, NP_060845.2:p.Leu67Phe, NP_001239077.1:p.Leu67Phe, NP_001317114.1:p.Leu67Phe, NP_001239079.1:p.Leu67Phe

Select item 14536948985.

rs1453694898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:69424162 (GRCh38)
14:69890879 (GRCh37)
Canonical SPDI:: NC_000014.9:69424161:G:T
Gene:: SLC39A9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.69424162G>T, NC_000014.8:g.69890879G>T, NM_018375.5:c.165G>T, NM_018375.4:c.165G>T, NM_001252148.2:c.165G>T, NM_001252148.1:c.165G>T, NM_001330185.2:c.165G>T, NM_001330185.1:c.165G>T, NM_001252151.2:c.-190G>T, NM_001252151.1:c.-190G>T, NM_001252152.2:c.-331G>T, NM_001252152.1:c.-331G>T, XM_024449648.2:c.-190G>T, XM_024449648.1:c.-190G>T, NM_001252150.2:c.165G>T, NM_001252150.1:c.165G>T, XM_047431550.1:c.-190G>T

Select item 14506327486.

rs1450632748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:69455782 (GRCh38)
14:69922499 (GRCh37)
Canonical SPDI:: NC_000014.9:69455781:G:A
Gene:: SLC39A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69455782G>A, NC_000014.8:g.69922499G>A, NM_018375.5:c.609G>A, NM_018375.4:c.609G>A, NM_001252148.2:c.540G>A, NM_001252148.1:c.540G>A, NM_001330185.2:c.411G>A, NM_001330185.1:c.411G>A, NM_001252151.2:c.255G>A, NM_001252151.1:c.255G>A, NM_001252152.2:c.255G>A, NM_001252152.1:c.255G>A, XM_024449648.2:c.255G>A, XM_024449648.1:c.255G>A, NM_001252150.2:c.609G>A, NM_001252150.1:c.609G>A, XM_047431550.1:c.186G>A

Select item 14449597037.

rs1444959703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:69458407 (GRCh38)
14:69925124 (GRCh37)
Canonical SPDI:: NC_000014.9:69458406:C:T
Gene:: SLC39A9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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.69458407C>T, NC_000014.8:g.69925124C>T, NM_018375.5:c.738C>T, NM_018375.4:c.738C>T, NM_001252148.2:c.669C>T, NM_001252148.1:c.669C>T, NM_001330185.2:c.540C>T, NM_001330185.1:c.540C>T, NM_001252151.2:c.384C>T, NM_001252151.1:c.384C>T, NM_001252152.2:c.384C>T, NM_001252152.1:c.384C>T, XM_024449648.2:c.384C>T, XM_024449648.1:c.384C>T, XM_047431550.1:c.315C>T

Select item 14371837548.

rs1437183754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:69455743 (GRCh38)
14:69922460 (GRCh37)
Canonical SPDI:: NC_000014.9:69455742:T:G
Gene:: SLC39A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.69455743T>G, NC_000014.8:g.69922460T>G, NM_018375.5:c.570T>G, NM_018375.4:c.570T>G, NM_001252148.2:c.501T>G, NM_001252148.1:c.501T>G, NM_001330185.2:c.372T>G, NM_001330185.1:c.372T>G, NM_001252151.2:c.216T>G, NM_001252151.1:c.216T>G, NM_001252152.2:c.216T>G, NM_001252152.1:c.216T>G, XM_024449648.2:c.216T>G, XM_024449648.1:c.216T>G, NM_001252150.2:c.570T>G, NM_001252150.1:c.570T>G, XM_047431550.1:c.147T>G

Select item 14329391249.

rs1432939124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:69399399 (GRCh38)
14:69866116 (GRCh37)
Canonical SPDI:: NC_000014.9:69399398:G:A,NC_000014.9:69399398:G:C
Gene:: ERH (Varview), SLC39A9 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.69399399G>A, NC_000014.9:g.69399399G>C, NC_000014.8:g.69866116G>A, NC_000014.8:g.69866116G>C, NM_018375.5:c.30G>A, NM_018375.5:c.30G>C, NM_018375.4:c.30G>A, NM_018375.4:c.30G>C, NM_001252148.2:c.30G>A, NM_001252148.2:c.30G>C, NM_001252148.1:c.30G>A, NM_001252148.1:c.30G>C, NM_001330185.2:c.30G>A, NM_001330185.2:c.30G>C, NM_001330185.1:c.30G>A, NM_001330185.1:c.30G>C, NM_001252150.2:c.30G>A, NM_001252150.2:c.30G>C, NM_001252150.1:c.30G>A, NM_001252150.1:c.30G>C

Select item 143291064110.

rs1432910641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:69455808 (GRCh38)
14:69922525 (GRCh37)
Canonical SPDI:: NC_000014.9:69455807:T:G
Gene:: SLC39A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.69455808T>G, NC_000014.8:g.69922525T>G, NM_018375.5:c.635T>G, NM_018375.4:c.635T>G, NM_001252148.2:c.566T>G, NM_001252148.1:c.566T>G, NM_001330185.2:c.437T>G, NM_001330185.1:c.437T>G, NM_001252151.2:c.281T>G, NM_001252151.1:c.281T>G, NM_001252152.2:c.281T>G, NM_001252152.1:c.281T>G, XM_024449648.2:c.281T>G, XM_024449648.1:c.281T>G, NM_001252150.2:c.635T>G, NM_001252150.1:c.635T>G, XM_047431550.1:c.212T>G, NP_060845.2:p.Leu212Arg, NP_001239077.1:p.Leu189Arg, NP_001317114.1:p.Leu146Arg, NP_001239080.1:p.Leu94Arg, NP_001239081.1:p.Leu94Arg, XP_024305416.1:p.Leu94Arg, NP_001239079.1:p.Leu212Arg, XP_047287506.1:p.Leu71Arg

Select item 142999492011.

rs1429994920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:69454841 (GRCh38)
14:69921558 (GRCh37)
Canonical SPDI:: NC_000014.9:69454840:T:C
Gene:: SLC39A9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.69454841T>C, NC_000014.8:g.69921558T>C, NM_018375.5:c.502T>C, NM_018375.4:c.502T>C, NM_001252148.2:c.433T>C, NM_001252148.1:c.433T>C, NM_001330185.2:c.304T>C, NM_001330185.1:c.304T>C, NM_001252151.2:c.148T>C, NM_001252151.1:c.148T>C, NM_001252152.2:c.148T>C, NM_001252152.1:c.148T>C, XM_024449648.2:c.148T>C, XM_024449648.1:c.148T>C, NM_001252150.2:c.502T>C, NM_001252150.1:c.502T>C, XM_047431550.1:c.79T>C, NP_060845.2:p.Ser168Pro, NP_001239077.1:p.Ser145Pro, NP_001317114.1:p.Ser102Pro, NP_001239080.1:p.Ser50Pro, NP_001239081.1:p.Ser50Pro, XP_024305416.1:p.Ser50Pro, NP_001239079.1:p.Ser168Pro, XP_047287506.1:p.Ser27Pro

Select item 140547399912.

rs1405473999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:69455781 (GRCh38)
14:69922498 (GRCh37)
Canonical SPDI:: NC_000014.9:69455780:A:T
Gene:: SLC39A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69455781A>T, NC_000014.8:g.69922498A>T, NM_018375.5:c.608A>T, NM_018375.4:c.608A>T, NM_001252148.2:c.539A>T, NM_001252148.1:c.539A>T, NM_001330185.2:c.410A>T, NM_001330185.1:c.410A>T, NM_001252151.2:c.254A>T, NM_001252151.1:c.254A>T, NM_001252152.2:c.254A>T, NM_001252152.1:c.254A>T, XM_024449648.2:c.254A>T, XM_024449648.1:c.254A>T, NM_001252150.2:c.608A>T, NM_001252150.1:c.608A>T, XM_047431550.1:c.185A>T, NP_060845.2:p.Glu203Val, NP_001239077.1:p.Glu180Val, NP_001317114.1:p.Glu137Val, NP_001239080.1:p.Glu85Val, NP_001239081.1:p.Glu85Val, XP_024305416.1:p.Glu85Val, NP_001239079.1:p.Glu203Val, XP_047287506.1:p.Glu62Val

Select item 140228633413.

rs1402286334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:69455739 (GRCh38)
14:69922456 (GRCh37)
Canonical SPDI:: NC_000014.9:69455738:C:G
Gene:: SLC39A9 (Varview)
Functional Consequence:: coding_sequence_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_000014.9:g.69455739C>G, NC_000014.8:g.69922456C>G, NM_018375.5:c.566C>G, NM_018375.4:c.566C>G, NM_001252148.2:c.497C>G, NM_001252148.1:c.497C>G, NM_001330185.2:c.368C>G, NM_001330185.1:c.368C>G, NM_001252151.2:c.212C>G, NM_001252151.1:c.212C>G, NM_001252152.2:c.212C>G, NM_001252152.1:c.212C>G, XM_024449648.2:c.212C>G, XM_024449648.1:c.212C>G, NM_001252150.2:c.566C>G, NM_001252150.1:c.566C>G, XM_047431550.1:c.143C>G, NP_060845.2:p.Ala189Gly, NP_001239077.1:p.Ala166Gly, NP_001317114.1:p.Ala123Gly, NP_001239080.1:p.Ala71Gly, NP_001239081.1:p.Ala71Gly, XP_024305416.1:p.Ala71Gly, NP_001239079.1:p.Ala189Gly, XP_047287506.1:p.Ala48Gly

Select item 140059162114.

rs1400591621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:69424114 (GRCh38)
14:69890831 (GRCh37)
Canonical SPDI:: NC_000014.9:69424113:T:A
Gene:: SLC39A9 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.69424114T>A, NC_000014.8:g.69890831T>A, NM_018375.5:c.117T>A, NM_018375.4:c.117T>A, NM_001252148.2:c.117T>A, NM_001252148.1:c.117T>A, NM_001330185.2:c.117T>A, NM_001330185.1:c.117T>A, NM_001252151.2:c.-238T>A, NM_001252151.1:c.-238T>A, NM_001252152.2:c.-379T>A, NM_001252152.1:c.-379T>A, XM_024449648.2:c.-238T>A, XM_024449648.1:c.-238T>A, NM_001252150.2:c.117T>A, NM_001252150.1:c.117T>A, XM_047431550.1:c.-238T>A

Select item 139877606315.

rs1398776063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:69455740 (GRCh38)
14:69922457 (GRCh37)
Canonical SPDI:: NC_000014.9:69455739:T:C
Gene:: SLC39A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.69455740T>C, NC_000014.8:g.69922457T>C, NM_018375.5:c.567T>C, NM_018375.4:c.567T>C, NM_001252148.2:c.498T>C, NM_001252148.1:c.498T>C, NM_001330185.2:c.369T>C, NM_001330185.1:c.369T>C, NM_001252151.2:c.213T>C, NM_001252151.1:c.213T>C, NM_001252152.2:c.213T>C, NM_001252152.1:c.213T>C, XM_024449648.2:c.213T>C, XM_024449648.1:c.213T>C, NM_001252150.2:c.567T>C, NM_001252150.1:c.567T>C, XM_047431550.1:c.144T>C

Select item 139399487316.

rs1393994873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:69454820 (GRCh38)
14:69921537 (GRCh37)
Canonical SPDI:: NC_000014.9:69454819:G:A
Gene:: SLC39A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.69454820G>A, NC_000014.8:g.69921537G>A, NM_018375.5:c.481G>A, NM_018375.4:c.481G>A, NM_001252148.2:c.412G>A, NM_001252148.1:c.412G>A, NM_001330185.2:c.283G>A, NM_001330185.1:c.283G>A, NM_001252151.2:c.127G>A, NM_001252151.1:c.127G>A, NM_001252152.2:c.127G>A, NM_001252152.1:c.127G>A, XM_024449648.2:c.127G>A, XM_024449648.1:c.127G>A, NM_001252150.2:c.481G>A, NM_001252150.1:c.481G>A, XM_047431550.1:c.58G>A, NP_060845.2:p.Val161Ile, NP_001239077.1:p.Val138Ile, NP_001317114.1:p.Val95Ile, NP_001239080.1:p.Val43Ile, NP_001239081.1:p.Val43Ile, XP_024305416.1:p.Val43Ile, NP_001239079.1:p.Val161Ile, XP_047287506.1:p.Val20Ile

Select item 138789798917.

rs1387897989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:69458427 (GRCh38)
14:69925144 (GRCh37)
Canonical SPDI:: NC_000014.9:69458426:C:G
Gene:: SLC39A9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.69458427C>G, NC_000014.8:g.69925144C>G, NM_018375.5:c.758C>G, NM_018375.4:c.758C>G, NM_001252148.2:c.689C>G, NM_001252148.1:c.689C>G, NM_001330185.2:c.560C>G, NM_001330185.1:c.560C>G, NM_001252151.2:c.404C>G, NM_001252151.1:c.404C>G, NM_001252152.2:c.404C>G, NM_001252152.1:c.404C>G, XM_024449648.2:c.404C>G, XM_024449648.1:c.404C>G, XM_047431550.1:c.335C>G, NP_060845.2:p.Thr253Arg, NP_001239077.1:p.Thr230Arg, NP_001317114.1:p.Thr187Arg, NP_001239080.1:p.Thr135Arg, NP_001239081.1:p.Thr135Arg, XP_024305416.1:p.Thr135Arg, XP_047287506.1:p.Thr112Arg

Select item 138352342418.

rs1383523424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:69455765 (GRCh38)
14:69922482 (GRCh37)
Canonical SPDI:: NC_000014.9:69455764:A:G
Gene:: SLC39A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.69455765A>G, NC_000014.8:g.69922482A>G, NM_018375.5:c.592A>G, NM_018375.4:c.592A>G, NM_001252148.2:c.523A>G, NM_001252148.1:c.523A>G, NM_001330185.2:c.394A>G, NM_001330185.1:c.394A>G, NM_001252151.2:c.238A>G, NM_001252151.1:c.238A>G, NM_001252152.2:c.238A>G, NM_001252152.1:c.238A>G, XM_024449648.2:c.238A>G, XM_024449648.1:c.238A>G, NM_001252150.2:c.592A>G, NM_001252150.1:c.592A>G, XM_047431550.1:c.169A>G, NP_060845.2:p.Met198Val, NP_001239077.1:p.Met175Val, NP_001317114.1:p.Met132Val, NP_001239080.1:p.Met80Val, NP_001239081.1:p.Met80Val, XP_024305416.1:p.Met80Val, NP_001239079.1:p.Met198Val, XP_047287506.1:p.Met57Val

Select item 138185706419.

rs1381857064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:69458482 (GRCh38)
14:69925199 (GRCh37)
Canonical SPDI:: NC_000014.9:69458481:C:T
Gene:: SLC39A9 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.69458482C>T, NC_000014.8:g.69925199C>T, NM_018375.5:c.813C>T, NM_018375.4:c.813C>T, NM_001252148.2:c.744C>T, NM_001252148.1:c.744C>T, NM_001330185.2:c.615C>T, NM_001330185.1:c.615C>T, NM_001252151.2:c.459C>T, NM_001252151.1:c.459C>T, NM_001252152.2:c.459C>T, NM_001252152.1:c.459C>T, XM_024449648.2:c.459C>T, XM_024449648.1:c.459C>T, XM_047431550.1:c.390C>T

Select item 138122334820.

rs1381223348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:69458549 (GRCh38)
14:69925266 (GRCh37)
Canonical SPDI:: NC_000014.9:69458548:G:A
Gene:: SLC39A9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.69458549G>A, NC_000014.8:g.69925266G>A, NM_018375.5:c.880G>A, NM_018375.4:c.880G>A, NM_001252148.2:c.811G>A, NM_001252148.1:c.811G>A, NM_001330185.2:c.682G>A, NM_001330185.1:c.682G>A, NM_001252151.2:c.526G>A, NM_001252151.1:c.526G>A, NM_001252152.2:c.526G>A, NM_001252152.1:c.526G>A, XM_024449648.2:c.526G>A, XM_024449648.1:c.526G>A, XM_047431550.1:c.457G>A, NP_060845.2:p.Gly294Ser, NP_001239077.1:p.Gly271Ser, NP_001317114.1:p.Gly228Ser, NP_001239080.1:p.Gly176Ser, NP_001239081.1:p.Gly176Ser, XP_024305416.1:p.Gly176Ser, XP_047287506.1:p.Gly153Ser

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