SNP Links for Protein (Select 1196493433) - SNP

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Links from Protein

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Select item 14901375731.

rs1490137573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:34854901 (GRCh38)
20:33442704 (GRCh37)
Canonical SPDI:: NC_000020.11:34854900:T:A,NC_000020.11:34854900:T:C
Gene:: GGT7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000020.11:g.34854901T>A, NC_000020.11:g.34854901T>C, NC_000020.10:g.33442704T>A, NC_000020.10:g.33442704T>C, XM_011528783.4:c.276A>T, XM_011528783.4:c.276A>G, XM_011528783.3:c.276A>T, XM_011528783.3:c.276A>G, XM_011528783.2:c.276A>T, XM_011528783.2:c.276A>G, XM_011528783.1:c.276A>T, XM_011528783.1:c.276A>G, NM_178026.3:c.1125A>T, NM_178026.3:c.1125A>G, NM_178026.2:c.1125A>T, NM_178026.2:c.1125A>G, NM_052830.3:c.1125A>T, NM_052830.3:c.1125A>G, XM_011528782.3:c.423A>T, XM_011528782.3:c.423A>G, XM_011528782.2:c.423A>T, XM_011528782.2:c.423A>G, XM_011528782.1:c.423A>T, XM_011528782.1:c.423A>G, XR_001754240.2:n.1166A>T, XR_001754240.2:n.1166A>G, XR_001754240.1:n.1167A>T, XR_001754240.1:n.1167A>G, NM_001351702.2:c.1125A>T, NM_001351702.2:c.1125A>G, NM_001351702.1:c.1125A>T, NM_001351702.1:c.1125A>G, NM_052830.2:c.1137A>T, NM_052830.2:c.1137A>G, XM_017027811.2:c.1125A>T, XM_017027811.2:c.1125A>G, XM_017027811.1:c.1125A>T, XM_017027811.1:c.1125A>G, XM_047440107.1:c.966A>T, XM_047440107.1:c.966A>G, XM_047440108.1:c.1125A>T, XM_047440108.1:c.1125A>G, XM_047440111.1:c.495A>T, XM_047440111.1:c.495A>G, XM_047440109.1:c.1125A>T, XM_047440109.1:c.1125A>G, XM_047440110.1:c.1125A>T, XM_047440110.1:c.1125A>G, NM_052830.1:c.1137A>T, NM_052830.1:c.1137A>G

Select item 14900582162.

rs1490058216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:34862891 (GRCh38)
20:33450694 (GRCh37)
Canonical SPDI:: NC_000020.11:34862890:C:G
Gene:: GGT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34862891C>G, NC_000020.10:g.33450694C>G, NM_178026.3:c.480G>C, NM_178026.2:c.480G>C, NM_052830.3:c.480G>C, XR_001754240.2:n.521G>C, XR_001754240.1:n.522G>C, NM_001351702.2:c.480G>C, NM_001351702.1:c.480G>C, NM_052830.2:c.480G>C, XM_017027811.2:c.480G>C, XM_017027811.1:c.480G>C, XM_047440107.1:c.321G>C, XM_047440108.1:c.480G>C, XM_047440109.1:c.480G>C, XM_047440110.1:c.480G>C, NM_052830.1:c.480G>C, NM_178025.1:c.480G>C, NP_821158.2:p.Gln160His, NP_001338631.1:p.Gln160His, XP_016883300.1:p.Gln160His, XP_047296063.1:p.Gln107His, XP_047296064.1:p.Gln160His, XP_047296065.1:p.Gln160His, XP_047296066.1:p.Gln160His

Select item 14895591113.

rs1489559111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:34863454 (GRCh38)
20:33451257 (GRCh37)
Canonical SPDI:: NC_000020.11:34863453:C:T
Gene:: GGT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000020.11:g.34863454C>T, NC_000020.10:g.33451257C>T, NM_178026.3:c.264G>A, NM_178026.2:c.264G>A, NM_052830.3:c.264G>A, XR_001754240.2:n.305G>A, XR_001754240.1:n.306G>A, NM_001351702.2:c.264G>A, NM_001351702.1:c.264G>A, NM_052830.2:c.264G>A, XM_017027811.2:c.264G>A, XM_017027811.1:c.264G>A, XM_047440107.1:c.105G>A, XM_047440108.1:c.264G>A, XM_047440109.1:c.264G>A, XM_047440110.1:c.264G>A, NM_052830.1:c.264G>A, NM_178025.1:c.264G>A

Select item 14886892284.

rs1488689228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:34863442 (GRCh38)
20:33451245 (GRCh37)
Canonical SPDI:: NC_000020.11:34863441:C:G,NC_000020.11:34863441:C:T
Gene:: GGT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34863442C>G, NC_000020.11:g.34863442C>T, NC_000020.10:g.33451245C>G, NC_000020.10:g.33451245C>T, NM_178026.3:c.276G>C, NM_178026.3:c.276G>A, NM_178026.2:c.276G>C, NM_178026.2:c.276G>A, NM_052830.3:c.276G>C, NM_052830.3:c.276G>A, XR_001754240.2:n.317G>C, XR_001754240.2:n.317G>A, XR_001754240.1:n.318G>C, XR_001754240.1:n.318G>A, NM_001351702.2:c.276G>C, NM_001351702.2:c.276G>A, NM_001351702.1:c.276G>C, NM_001351702.1:c.276G>A, NM_052830.2:c.276G>C, NM_052830.2:c.276G>A, XM_017027811.2:c.276G>C, XM_017027811.2:c.276G>A, XM_017027811.1:c.276G>C, XM_017027811.1:c.276G>A, XM_047440107.1:c.117G>C, XM_047440107.1:c.117G>A, XM_047440108.1:c.276G>C, XM_047440108.1:c.276G>A, XM_047440109.1:c.276G>C, XM_047440109.1:c.276G>A, XM_047440110.1:c.276G>C, XM_047440110.1:c.276G>A, NM_052830.1:c.276G>C, NM_052830.1:c.276G>A, NM_178025.1:c.276G>C, NM_178025.1:c.276G>A

Select item 14866571655.

rs1486657165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34856839 (GRCh38)
20:33444642 (GRCh37)
Canonical SPDI:: NC_000020.11:34856838:G:A
Gene:: GGT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34856839G>A, NC_000020.10:g.33444642G>A, XM_011528783.4:c.220C>T, XM_011528783.3:c.220C>T, XM_011528783.2:c.220C>T, XM_011528783.1:c.220C>T, NM_178026.3:c.1069C>T, NM_178026.2:c.1069C>T, NM_052830.3:c.1069C>T, XM_011528782.3:c.367C>T, XM_011528782.2:c.367C>T, XM_011528782.1:c.367C>T, XR_001754240.2:n.1110C>T, XR_001754240.1:n.1111C>T, NM_001351702.2:c.1069C>T, NM_001351702.1:c.1069C>T, NM_052830.2:c.1081C>T, XM_017027811.2:c.1069C>T, XM_017027811.1:c.1069C>T, XM_047440107.1:c.910C>T, XM_047440108.1:c.1069C>T, XM_047440111.1:c.439C>T, XM_047440109.1:c.1069C>T, XM_047440110.1:c.1069C>T, NM_052830.1:c.1081C>T, XP_011527085.1:p.Leu74Phe, NP_821158.2:p.Leu357Phe, XP_011527084.1:p.Leu123Phe, NP_001338631.1:p.Leu357Phe, XP_016883300.1:p.Leu357Phe, XP_047296063.1:p.Leu304Phe, XP_047296064.1:p.Leu357Phe, XP_047296067.1:p.Leu147Phe, XP_047296065.1:p.Leu357Phe, XP_047296066.1:p.Leu357Phe

Select item 14858301546.

rs1485830154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:34860306 (GRCh38)
20:33448109 (GRCh37)
Canonical SPDI:: NC_000020.11:34860305:C:T
Gene:: GGT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
HGVS:: NC_000020.11:g.34860306C>T, NC_000020.10:g.33448109C>T, NM_178026.3:c.691G>A, NM_178026.2:c.691G>A, NM_052830.3:c.691G>A, XM_011528782.3:c.-12G>A, XM_011528782.2:c.-12G>A, XM_011528782.1:c.-12G>A, XR_001754240.2:n.732G>A, XR_001754240.1:n.733G>A, NM_001351702.2:c.691G>A, NM_001351702.1:c.691G>A, NM_052830.2:c.703G>A, XM_017027811.2:c.691G>A, XM_017027811.1:c.691G>A, XM_047440107.1:c.532G>A, XM_047440108.1:c.691G>A, XM_047440111.1:c.-28G>A, XM_047440109.1:c.691G>A, XM_047440110.1:c.691G>A, NM_052830.1:c.703G>A, NP_821158.2:p.Gly231Arg, NP_001338631.1:p.Gly231Arg, XP_016883300.1:p.Gly231Arg, XP_047296063.1:p.Gly178Arg, XP_047296064.1:p.Gly231Arg, XP_047296065.1:p.Gly231Arg, XP_047296066.1:p.Gly231Arg

Select item 14856186837.

rs1485618683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:34851315 (GRCh38)
20:33439118 (GRCh37)
Canonical SPDI:: NC_000020.11:34851314:C:G
Gene:: GGT7 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34851315C>G, NC_000020.10:g.33439118C>G, XM_011528783.4:c.792G>C, XM_011528783.3:c.792G>C, XM_011528783.2:c.792G>C, XM_011528783.1:c.792G>C, NM_178026.3:c.1641G>C, NM_178026.2:c.1641G>C, NM_052830.3:c.1641G>C, XM_011528782.3:c.939G>C, XM_011528782.2:c.939G>C, XM_011528782.1:c.939G>C, XR_001754240.2:n.1682G>C, XR_001754240.1:n.1683G>C, NM_001351702.2:c.1641G>C, NM_001351702.1:c.1641G>C, NM_052830.2:c.1653G>C, XM_047440107.1:c.1482G>C, XM_047440108.1:c.1641G>C, XM_047440111.1:c.1011G>C, XM_047440109.1:c.1641G>C, XM_047440110.1:c.1641G>C, NM_052830.1:c.1653G>C

Select item 14811928668.

rs1481192866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:34851244 (GRCh38)
20:33439047 (GRCh37)
Canonical SPDI:: NC_000020.11:34851243:C:G
Gene:: GGT7 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.34851244C>G, NC_000020.10:g.33439047C>G, XM_011528783.4:c.863G>C, XM_011528783.3:c.863G>C, XM_011528783.2:c.863G>C, XM_011528783.1:c.863G>C, NM_178026.3:c.1712G>C, NM_178026.2:c.1712G>C, NM_052830.3:c.1712G>C, XM_011528782.3:c.1010G>C, XM_011528782.2:c.1010G>C, XM_011528782.1:c.1010G>C, XR_001754240.2:n.1753G>C, XR_001754240.1:n.1754G>C, NM_001351702.2:c.1712G>C, NM_001351702.1:c.1712G>C, NM_052830.2:c.1724G>C, XM_047440107.1:c.1553G>C, XM_047440108.1:c.1712G>C, XM_047440111.1:c.1082G>C, XM_047440109.1:c.1712G>C, XM_047440110.1:c.1712G>C, NM_052830.1:c.1724G>C, XP_011527085.1:p.Ser288Thr, NP_821158.2:p.Ser571Thr, XP_011527084.1:p.Ser337Thr, NP_001338631.1:p.Ser571Thr, XP_047296063.1:p.Ser518Thr, XP_047296064.1:p.Ser571Thr, XP_047296067.1:p.Ser361Thr, XP_047296065.1:p.Ser571Thr, XP_047296066.1:p.Ser571Thr

Select item 14805645429.

rs1480564542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:34859984 (GRCh38)
20:33447787 (GRCh37)
Canonical SPDI:: NC_000020.11:34859983:C:T
Gene:: GGT7 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000022/4 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34859984C>T, NC_000020.10:g.33447787C>T, XM_011528783.4:c.-91G>A, XM_011528783.3:c.-91G>A, XM_011528783.2:c.-91G>A, XM_011528783.1:c.-91G>A, NM_178026.3:c.802G>A, NM_178026.2:c.802G>A, NM_052830.3:c.802G>A, XM_011528782.3:c.100G>A, XM_011528782.2:c.100G>A, XM_011528782.1:c.100G>A, XR_001754240.2:n.843G>A, XR_001754240.1:n.844G>A, NM_001351702.2:c.802G>A, NM_001351702.1:c.802G>A, NM_052830.2:c.814G>A, XM_017027811.2:c.802G>A, XM_017027811.1:c.802G>A, XM_047440107.1:c.643G>A, XM_047440108.1:c.802G>A, XM_047440111.1:c.172G>A, XM_047440109.1:c.802G>A, XM_047440110.1:c.802G>A, NM_052830.1:c.814G>A, NP_821158.2:p.Val268Met, XP_011527084.1:p.Val34Met, NP_001338631.1:p.Val268Met, XP_016883300.1:p.Val268Met, XP_047296063.1:p.Val215Met, XP_047296064.1:p.Val268Met, XP_047296067.1:p.Val58Met, XP_047296065.1:p.Val268Met, XP_047296066.1:p.Val268Met

Select item 148021539910.

rs1480215399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:34863521 (GRCh38)
20:33451324 (GRCh37)
Canonical SPDI:: NC_000020.11:34863520:C:T
Gene:: GGT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.34863521C>T, NC_000020.10:g.33451324C>T, NM_178026.3:c.197G>A, NM_178026.2:c.197G>A, NM_052830.3:c.197G>A, XR_001754240.2:n.238G>A, XR_001754240.1:n.239G>A, NM_001351702.2:c.197G>A, NM_001351702.1:c.197G>A, NM_052830.2:c.197G>A, XM_017027811.2:c.197G>A, XM_017027811.1:c.197G>A, XM_047440107.1:c.38G>A, XM_047440108.1:c.197G>A, XM_047440109.1:c.197G>A, XM_047440110.1:c.197G>A, NM_052830.1:c.197G>A, NM_178025.1:c.197G>A, NP_821158.2:p.Arg66Gln, NP_001338631.1:p.Arg66Gln, XP_016883300.1:p.Arg66Gln, XP_047296063.1:p.Arg13Gln, XP_047296064.1:p.Arg66Gln, XP_047296065.1:p.Arg66Gln, XP_047296066.1:p.Arg66Gln

Select item 148010437811.

rs1480104378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:34850012 (GRCh38)
20:33437815 (GRCh37)
Canonical SPDI:: NC_000020.11:34850011:C:A
Gene:: GGT7 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_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_000020.11:g.34850012C>A, NC_000020.10:g.33437815C>A, XM_011528783.4:c.925G>T, XM_011528783.3:c.925G>T, XM_011528783.2:c.925G>T, XM_011528783.1:c.925G>T, NM_178026.3:c.1774G>T, NM_178026.2:c.1774G>T, NM_052830.3:c.1774G>T, XM_011528782.3:c.1072G>T, XM_011528782.2:c.1072G>T, XM_011528782.1:c.1072G>T, XR_001754240.2:n.1815G>T, XR_001754240.1:n.1816G>T, NM_001351702.2:c.1774G>T, NM_001351702.1:c.1774G>T, NM_052830.2:c.1786G>T, XM_047440107.1:c.1615G>T, XM_047440108.1:c.*801G>T, XM_047440111.1:c.1144G>T, XM_047440109.1:c.*164G>T, XM_047440110.1:c.*177G>T, NM_052830.1:c.1786G>T, XP_011527085.1:p.Ala309Ser, NP_821158.2:p.Ala592Ser, XP_011527084.1:p.Ala358Ser, NP_001338631.1:p.Ala592Ser, XP_047296063.1:p.Ala539Ser, XP_047296067.1:p.Ala382Ser

Select item 147936103412.

rs1479361034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:34863463 (GRCh38)
20:33451266 (GRCh37)
Canonical SPDI:: NC_000020.11:34863462:T:C
Gene:: GGT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.34863463T>C, NC_000020.10:g.33451266T>C, NM_178026.3:c.255A>G, NM_178026.2:c.255A>G, NM_052830.3:c.255A>G, XR_001754240.2:n.296A>G, XR_001754240.1:n.297A>G, NM_001351702.2:c.255A>G, NM_001351702.1:c.255A>G, NM_052830.2:c.255A>G, XM_017027811.2:c.255A>G, XM_017027811.1:c.255A>G, XM_047440107.1:c.96A>G, XM_047440108.1:c.255A>G, XM_047440109.1:c.255A>G, XM_047440110.1:c.255A>G, NM_052830.1:c.255A>G, NM_178025.1:c.255A>G

Select item 147858501013.

rs1478585010 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34862837 (GRCh38)
20:33450640 (GRCh37)
Canonical SPDI:: NC_000020.11:34862836:A:G
Gene:: GGT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.34862837A>G, NC_000020.10:g.33450640A>G, NM_178026.3:c.534T>C, NM_178026.2:c.534T>C, NM_052830.3:c.534T>C, XR_001754240.2:n.575T>C, XR_001754240.1:n.576T>C, NM_001351702.2:c.534T>C, NM_001351702.1:c.534T>C, NM_052830.2:c.534T>C, XM_017027811.2:c.534T>C, XM_017027811.1:c.534T>C, XM_047440107.1:c.375T>C, XM_047440108.1:c.534T>C, XM_047440109.1:c.534T>C, XM_047440110.1:c.534T>C, NM_052830.1:c.534T>C, NM_178025.1:c.534T>C

Select item 147855229814.

rs1478552298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:34872651 (GRCh38)
20:33460454 (GRCh37)
Canonical SPDI:: NC_000020.11:34872650:G:T
Gene:: GGT7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.34872651G>T, NC_000020.10:g.33460454G>T, NG_011520.1:g.2710G>T, NM_178026.3:c.165C>A, NM_178026.2:c.165C>A, NM_052830.3:c.165C>A, XR_001754240.2:n.206C>A, XR_001754240.1:n.207C>A, NM_001351702.2:c.165C>A, NM_001351702.1:c.165C>A, NM_052830.2:c.165C>A, XM_017027811.2:c.165C>A, XM_017027811.1:c.165C>A, XM_047440108.1:c.165C>A, XM_047440109.1:c.165C>A, XM_047440110.1:c.165C>A, NM_052830.1:c.165C>A, NM_178025.1:c.165C>A, NP_821158.2:p.Asp55Glu, NP_001338631.1:p.Asp55Glu, XP_016883300.1:p.Asp55Glu, XP_047296064.1:p.Asp55Glu, XP_047296065.1:p.Asp55Glu, XP_047296066.1:p.Asp55Glu

Select item 147792634915.

rs1477926349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:34852404 (GRCh38)
20:33440207 (GRCh37)
Canonical SPDI:: NC_000020.11:34852403:A:G
Gene:: GGT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000020.11:g.34852404A>G, NC_000020.10:g.33440207A>G, XM_011528783.4:c.605T>C, XM_011528783.3:c.605T>C, XM_011528783.2:c.605T>C, XM_011528783.1:c.605T>C, NM_178026.3:c.1454T>C, NM_178026.2:c.1454T>C, NM_052830.3:c.1454T>C, XM_011528782.3:c.752T>C, XM_011528782.2:c.752T>C, XM_011528782.1:c.752T>C, XR_001754240.2:n.1495T>C, XR_001754240.1:n.1496T>C, NM_001351702.2:c.1454T>C, NM_001351702.1:c.1454T>C, NM_052830.2:c.1466T>C, XM_017027811.2:c.1454T>C, XM_017027811.1:c.1454T>C, XM_047440107.1:c.1295T>C, XM_047440108.1:c.1454T>C, XM_047440111.1:c.824T>C, XM_047440109.1:c.1454T>C, XM_047440110.1:c.1454T>C, NM_052830.1:c.1466T>C, XP_011527085.1:p.Ile202Thr, NP_821158.2:p.Ile485Thr, XP_011527084.1:p.Ile251Thr, NP_001338631.1:p.Ile485Thr, XP_016883300.1:p.Ile485Thr, XP_047296063.1:p.Ile432Thr, XP_047296064.1:p.Ile485Thr, XP_047296067.1:p.Ile275Thr, XP_047296065.1:p.Ile485Thr, XP_047296066.1:p.Ile485Thr

Select item 147629034816.

rs1476290348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34859577 (GRCh38)
20:33447380 (GRCh37)
Canonical SPDI:: NC_000020.11:34859576:G:A
Gene:: GGT7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.34859577G>A, NC_000020.10:g.33447380G>A, XM_011528783.4:c.31C>T, XM_011528783.3:c.31C>T, XM_011528783.2:c.31C>T, XM_011528783.1:c.31C>T, NM_178026.3:c.880C>T, NM_178026.2:c.880C>T, NM_052830.3:c.880C>T, XM_011528782.3:c.178C>T, XM_011528782.2:c.178C>T, XM_011528782.1:c.178C>T, XR_001754240.2:n.921C>T, XR_001754240.1:n.922C>T, NM_001351702.2:c.880C>T, NM_001351702.1:c.880C>T, NM_052830.2:c.892C>T, XM_017027811.2:c.880C>T, XM_017027811.1:c.880C>T, XM_047440107.1:c.721C>T, XM_047440108.1:c.880C>T, XM_047440111.1:c.250C>T, XM_047440109.1:c.880C>T, XM_047440110.1:c.880C>T, NM_052830.1:c.892C>T, XP_011527085.1:p.Pro11Ser, NP_821158.2:p.Pro294Ser, XP_011527084.1:p.Pro60Ser, NP_001338631.1:p.Pro294Ser, XP_016883300.1:p.Pro294Ser, XP_047296063.1:p.Pro241Ser, XP_047296064.1:p.Pro294Ser, XP_047296067.1:p.Pro84Ser, XP_047296065.1:p.Pro294Ser, XP_047296066.1:p.Pro294Ser

Select item 147561502017.

rs1475615020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:34845487 (GRCh38)
20:33433290 (GRCh37)
Canonical SPDI:: NC_000020.11:34845486:C:A
Gene:: GGT7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.34845487C>A, NC_000020.10:g.33433290C>A, XM_011528783.4:c.981G>T, XM_011528783.3:c.981G>T, XM_011528783.2:c.981G>T, XM_011528783.1:c.981G>T, NM_178026.3:c.1830G>T, NM_178026.2:c.1830G>T, NM_052830.3:c.1830G>T, XM_011528782.3:c.1128G>T, XM_011528782.2:c.1128G>T, XM_011528782.1:c.1128G>T, XR_001754240.2:n.2037G>T, XR_001754240.1:n.2038G>T, NM_001351702.2:c.1823G>T, NM_001351702.1:c.1823G>T, NM_052830.2:c.1842G>T, XM_047440107.1:c.1671G>T, XM_047440111.1:c.1200G>T, NM_052830.1:c.1842G>T, XP_011527085.1:p.Glu327Asp, NP_821158.2:p.Glu610Asp, XP_011527084.1:p.Glu376Asp, NP_001338631.1:p.Ser608Ile, XP_047296063.1:p.Glu557Asp, XP_047296067.1:p.Glu400Asp

Select item 147337630518.

rs1473376305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34856816 (GRCh38)
20:33444619 (GRCh37)
Canonical SPDI:: NC_000020.11:34856815:G:A
Gene:: GGT7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34856816G>A, NC_000020.10:g.33444619G>A, XM_011528783.4:c.243C>T, XM_011528783.3:c.243C>T, XM_011528783.2:c.243C>T, XM_011528783.1:c.243C>T, NM_178026.3:c.1092C>T, NM_178026.2:c.1092C>T, NM_052830.3:c.1092C>T, XM_011528782.3:c.390C>T, XM_011528782.2:c.390C>T, XM_011528782.1:c.390C>T, XR_001754240.2:n.1133C>T, XR_001754240.1:n.1134C>T, NM_001351702.2:c.1092C>T, NM_001351702.1:c.1092C>T, NM_052830.2:c.1104C>T, XM_017027811.2:c.1092C>T, XM_017027811.1:c.1092C>T, XM_047440107.1:c.933C>T, XM_047440108.1:c.1092C>T, XM_047440111.1:c.462C>T, XM_047440109.1:c.1092C>T, XM_047440110.1:c.1092C>T, NM_052830.1:c.1104C>T

Select item 147326140019.

rs1473261400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:34851338 (GRCh38)
20:33439141 (GRCh37)
Canonical SPDI:: NC_000020.11:34851337:G:A
Gene:: GGT7 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34851338G>A, NC_000020.10:g.33439141G>A, XM_011528783.4:c.769C>T, XM_011528783.3:c.769C>T, XM_011528783.2:c.769C>T, XM_011528783.1:c.769C>T, NM_178026.3:c.1618C>T, NM_178026.2:c.1618C>T, NM_052830.3:c.1618C>T, XM_011528782.3:c.916C>T, XM_011528782.2:c.916C>T, XM_011528782.1:c.916C>T, XR_001754240.2:n.1659C>T, XR_001754240.1:n.1660C>T, NM_001351702.2:c.1618C>T, NM_001351702.1:c.1618C>T, NM_052830.2:c.1630C>T, XM_047440107.1:c.1459C>T, XM_047440108.1:c.1618C>T, XM_047440111.1:c.988C>T, XM_047440109.1:c.1618C>T, XM_047440110.1:c.1618C>T, NM_052830.1:c.1630C>T, XP_011527085.1:p.Leu257Phe, NP_821158.2:p.Leu540Phe, XP_011527084.1:p.Leu306Phe, NP_001338631.1:p.Leu540Phe, XP_047296063.1:p.Leu487Phe, XP_047296064.1:p.Leu540Phe, XP_047296067.1:p.Leu330Phe, XP_047296065.1:p.Leu540Phe, XP_047296066.1:p.Leu540Phe

Select item 147322967920.

rs1473229679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:34854796 (GRCh38)
20:33442599 (GRCh37)
Canonical SPDI:: NC_000020.11:34854795:C:T
Gene:: GGT7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.34854796C>T, NC_000020.10:g.33442599C>T, XM_011528783.4:c.381G>A, XM_011528783.3:c.381G>A, XM_011528783.2:c.381G>A, XM_011528783.1:c.381G>A, NM_178026.3:c.1230G>A, NM_178026.2:c.1230G>A, NM_052830.3:c.1230G>A, XM_011528782.3:c.528G>A, XM_011528782.2:c.528G>A, XM_011528782.1:c.528G>A, XR_001754240.2:n.1271G>A, XR_001754240.1:n.1272G>A, NM_001351702.2:c.1230G>A, NM_001351702.1:c.1230G>A, NM_052830.2:c.1242G>A, XM_017027811.2:c.1230G>A, XM_017027811.1:c.1230G>A, XM_047440107.1:c.1071G>A, XM_047440108.1:c.1230G>A, XM_047440111.1:c.600G>A, XM_047440109.1:c.1230G>A, XM_047440110.1:c.1230G>A, NM_052830.1:c.1242G>A

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