SNP Links for Protein (Select 768037021) - SNP

Select item 14872796221.

rs1487279622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:57135936 (GRCh38)
X:57162369 (GRCh37)
Canonical SPDI:: NC_000023.11:57135935:C:G
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.57135936C>G, NC_000023.10:g.57162369C>G, NG_016252.1:g.6690G>C, NM_019003.4:c.662G>C, NM_019003.5:c.662G>C, NM_019003.3:c.662G>C, XM_005262016.5:c.662G>C, XM_005262016.4:c.662G>C, XM_005262016.3:c.662G>C, XM_005262016.2:c.800G>C, XM_005262016.1:c.974G>C, XM_005262017.5:c.662G>C, XM_005262017.4:c.662G>C, XM_005262017.3:c.662G>C, XM_005262017.2:c.797G>C, XM_005262017.1:c.971G>C, XM_005262019.4:c.662G>C, XM_005262019.3:c.662G>C, XM_005262019.2:c.662G>C, XM_005262019.1:c.662G>C, XM_017029598.2:c.662G>C, XM_017029598.1:c.662G>C, XM_047442188.1:c.359G>C, NP_061876.3:p.Gly221Ala, XP_005262073.3:p.Gly221Ala, XP_005262074.3:p.Gly221Ala, XP_005262076.1:p.Gly221Ala, XP_016885087.1:p.Gly221Ala, XP_047298144.1:p.Gly120Ala

Select item 14868384702.

rs1486838470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:57136413 (GRCh38)
X:57162846 (GRCh37)
Canonical SPDI:: NC_000023.11:57136412:T:A
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.57136413T>A, NC_000023.10:g.57162846T>A, NG_016252.1:g.6213A>T, NM_019003.4:c.185A>T, NM_019003.5:c.185A>T, NM_019003.3:c.185A>T, XM_005262016.5:c.185A>T, XM_005262016.4:c.185A>T, XM_005262016.3:c.185A>T, XM_005262016.2:c.323A>T, XM_005262016.1:c.497A>T, XM_005262017.5:c.185A>T, XM_005262017.4:c.185A>T, XM_005262017.3:c.185A>T, XM_005262017.2:c.320A>T, XM_005262017.1:c.494A>T, XM_005262019.4:c.185A>T, XM_005262019.3:c.185A>T, XM_005262019.2:c.185A>T, XM_005262019.1:c.185A>T, XM_017029599.3:c.185A>T, XM_017029599.2:c.323A>T, XM_017029599.1:c.323A>T, XM_017029598.2:c.185A>T, XM_017029598.1:c.185A>T, XM_047442188.1:c.185A>T, NP_061876.3:p.Asp62Val, XP_005262073.3:p.Asp62Val, XP_005262074.3:p.Asp62Val, XP_005262076.1:p.Asp62Val, XP_016885088.2:p.Asp62Val, XP_016885087.1:p.Asp62Val, XP_047298144.1:p.Asp62Val

Select item 14865579253.

rs1486557925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:57136540 (GRCh38)
X:57162973 (GRCh37)
Canonical SPDI:: NC_000023.11:57136539:G:A,NC_000023.11:57136539:G:T
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/1 (TOMMO)
T=0.00005/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.57136540G>A, NC_000023.11:g.57136540G>T, NC_000023.10:g.57162973G>A, NC_000023.10:g.57162973G>T, NG_016252.1:g.6086C>T, NG_016252.1:g.6086C>A, NM_019003.4:c.58C>T, NM_019003.4:c.58C>A, NM_019003.5:c.58C>T, NM_019003.5:c.58C>A, NM_019003.3:c.58C>T, NM_019003.3:c.58C>A, XM_005262016.5:c.58C>T, XM_005262016.5:c.58C>A, XM_005262016.4:c.58C>T, XM_005262016.4:c.58C>A, XM_005262016.3:c.58C>T, XM_005262016.3:c.58C>A, XM_005262016.2:c.196C>T, XM_005262016.2:c.196C>A, XM_005262016.1:c.370C>T, XM_005262016.1:c.370C>A, XM_005262017.5:c.58C>T, XM_005262017.5:c.58C>A, XM_005262017.4:c.58C>T, XM_005262017.4:c.58C>A, XM_005262017.3:c.58C>T, XM_005262017.3:c.58C>A, XM_005262017.2:c.193C>T, XM_005262017.2:c.193C>A, XM_005262017.1:c.367C>T, XM_005262017.1:c.367C>A, XM_005262019.4:c.58C>T, XM_005262019.4:c.58C>A, XM_005262019.3:c.58C>T, XM_005262019.3:c.58C>A, XM_005262019.2:c.58C>T, XM_005262019.2:c.58C>A, XM_005262019.1:c.58C>T, XM_005262019.1:c.58C>A, XM_017029599.3:c.58C>T, XM_017029599.3:c.58C>A, XM_017029599.2:c.196C>T, XM_017029599.2:c.196C>A, XM_017029599.1:c.196C>T, XM_017029599.1:c.196C>A, XM_017029598.2:c.58C>T, XM_017029598.2:c.58C>A, XM_017029598.1:c.58C>T, XM_017029598.1:c.58C>A, XM_047442188.1:c.58C>T, XM_047442188.1:c.58C>A, NP_061876.3:p.Arg20Trp, XP_005262073.3:p.Arg20Trp, XP_005262074.3:p.Arg20Trp, XP_005262076.1:p.Arg20Trp, XP_016885088.2:p.Arg20Trp, XP_016885087.1:p.Arg20Trp, XP_047298144.1:p.Arg20Trp

Select item 14862280154.

rs1486228015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:57136092 (GRCh38)
X:57162525 (GRCh37)
Canonical SPDI:: NC_000023.11:57136091:T:G
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000023.11:g.57136092T>G, NC_000023.10:g.57162525T>G, NG_016252.1:g.6534A>C, NM_019003.4:c.506A>C, NM_019003.5:c.506A>C, NM_019003.3:c.506A>C, XM_005262016.5:c.506A>C, XM_005262016.4:c.506A>C, XM_005262016.3:c.506A>C, XM_005262016.2:c.644A>C, XM_005262016.1:c.818A>C, XM_005262017.5:c.506A>C, XM_005262017.4:c.506A>C, XM_005262017.3:c.506A>C, XM_005262017.2:c.641A>C, XM_005262017.1:c.815A>C, XM_005262019.4:c.506A>C, XM_005262019.3:c.506A>C, XM_005262019.2:c.506A>C, XM_005262019.1:c.506A>C, XM_017029598.2:c.506A>C, XM_017029598.1:c.506A>C, NP_061876.3:p.Asp169Ala, XP_005262073.3:p.Asp169Ala, XP_005262074.3:p.Asp169Ala, XP_005262076.1:p.Asp169Ala, XP_016885087.1:p.Asp169Ala

Select item 14764219965.

rs1476421996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:57136520 (GRCh38)
X:57162953 (GRCh37)
Canonical SPDI:: NC_000023.11:57136519:G:A
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.57136520G>A, NC_000023.10:g.57162953G>A, NG_016252.1:g.6106C>T, NM_019003.4:c.78C>T, NM_019003.5:c.78C>T, NM_019003.3:c.78C>T, XM_005262016.5:c.78C>T, XM_005262016.4:c.78C>T, XM_005262016.3:c.78C>T, XM_005262016.2:c.216C>T, XM_005262016.1:c.390C>T, XM_005262017.5:c.78C>T, XM_005262017.4:c.78C>T, XM_005262017.3:c.78C>T, XM_005262017.2:c.213C>T, XM_005262017.1:c.387C>T, XM_005262019.4:c.78C>T, XM_005262019.3:c.78C>T, XM_005262019.2:c.78C>T, XM_005262019.1:c.78C>T, XM_017029599.3:c.78C>T, XM_017029599.2:c.216C>T, XM_017029599.1:c.216C>T, XM_017029598.2:c.78C>T, XM_017029598.1:c.78C>T, XM_047442188.1:c.78C>T

Select item 14759990356.

rs1475999035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:57136437 (GRCh38)
X:57162870 (GRCh37)
Canonical SPDI:: NC_000023.11:57136436:A:G
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.00004/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.57136437A>G, NC_000023.10:g.57162870A>G, NG_016252.1:g.6189T>C, NM_019003.4:c.161T>C, NM_019003.5:c.161T>C, NM_019003.3:c.161T>C, XM_005262016.5:c.161T>C, XM_005262016.4:c.161T>C, XM_005262016.3:c.161T>C, XM_005262016.2:c.299T>C, XM_005262016.1:c.473T>C, XM_005262017.5:c.161T>C, XM_005262017.4:c.161T>C, XM_005262017.3:c.161T>C, XM_005262017.2:c.296T>C, XM_005262017.1:c.470T>C, XM_005262019.4:c.161T>C, XM_005262019.3:c.161T>C, XM_005262019.2:c.161T>C, XM_005262019.1:c.161T>C, XM_017029599.3:c.161T>C, XM_017029599.2:c.299T>C, XM_017029599.1:c.299T>C, XM_017029598.2:c.161T>C, XM_017029598.1:c.161T>C, XM_047442188.1:c.161T>C, NP_061876.3:p.Ile54Thr, XP_005262073.3:p.Ile54Thr, XP_005262074.3:p.Ile54Thr, XP_005262076.1:p.Ile54Thr, XP_016885088.2:p.Ile54Thr, XP_016885087.1:p.Ile54Thr, XP_047298144.1:p.Ile54Thr

Select item 14713664777.

rs1471366477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:57136566 (GRCh38)
X:57162999 (GRCh37)
Canonical SPDI:: NC_000023.11:57136565:C:T
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.57136566C>T, NC_000023.10:g.57162999C>T, NG_016252.1:g.6060G>A, NM_019003.4:c.32G>A, NM_019003.5:c.32G>A, NM_019003.3:c.32G>A, XM_005262016.5:c.32G>A, XM_005262016.4:c.32G>A, XM_005262016.3:c.32G>A, XM_005262016.2:c.170G>A, XM_005262016.1:c.344G>A, XM_005262017.5:c.32G>A, XM_005262017.4:c.32G>A, XM_005262017.3:c.32G>A, XM_005262017.2:c.167G>A, XM_005262017.1:c.341G>A, XM_005262019.4:c.32G>A, XM_005262019.3:c.32G>A, XM_005262019.2:c.32G>A, XM_005262019.1:c.32G>A, XM_017029599.3:c.32G>A, XM_017029599.2:c.170G>A, XM_017029599.1:c.170G>A, XM_017029598.2:c.32G>A, XM_017029598.1:c.32G>A, XM_047442188.1:c.32G>A, NP_061876.3:p.Gly11Glu, XP_005262073.3:p.Gly11Glu, XP_005262074.3:p.Gly11Glu, XP_005262076.1:p.Gly11Glu, XP_016885088.2:p.Gly11Glu, XP_016885087.1:p.Gly11Glu, XP_047298144.1:p.Gly11Glu

Select item 14620947488.

rs1462094748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:57135993 (GRCh38)
X:57162426 (GRCh37)
Canonical SPDI:: NC_000023.11:57135992:G:C
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.57135993G>C, NC_000023.10:g.57162426G>C, NG_016252.1:g.6633C>G, NM_019003.4:c.605C>G, NM_019003.5:c.605C>G, NM_019003.3:c.605C>G, XM_005262016.5:c.605C>G, XM_005262016.4:c.605C>G, XM_005262016.3:c.605C>G, XM_005262016.2:c.743C>G, XM_005262016.1:c.917C>G, XM_005262017.5:c.605C>G, XM_005262017.4:c.605C>G, XM_005262017.3:c.605C>G, XM_005262017.2:c.740C>G, XM_005262017.1:c.914C>G, XM_005262019.4:c.605C>G, XM_005262019.3:c.605C>G, XM_005262019.2:c.605C>G, XM_005262019.1:c.605C>G, XM_017029598.2:c.605C>G, XM_017029598.1:c.605C>G, XM_047442188.1:c.302C>G, NP_061876.3:p.Pro202Arg, XP_005262073.3:p.Pro202Arg, XP_005262074.3:p.Pro202Arg, XP_005262076.1:p.Pro202Arg, XP_016885087.1:p.Pro202Arg, XP_047298144.1:p.Pro101Arg

Select item 14594699809.

rs1459469980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:57136517 (GRCh38)
X:57162950 (GRCh37)
Canonical SPDI:: NC_000023.11:57136516:C:T
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.57136517C>T, NC_000023.10:g.57162950C>T, NG_016252.1:g.6109G>A, NM_019003.4:c.81G>A, NM_019003.5:c.81G>A, NM_019003.3:c.81G>A, XM_005262016.5:c.81G>A, XM_005262016.4:c.81G>A, XM_005262016.3:c.81G>A, XM_005262016.2:c.219G>A, XM_005262016.1:c.393G>A, XM_005262017.5:c.81G>A, XM_005262017.4:c.81G>A, XM_005262017.3:c.81G>A, XM_005262017.2:c.216G>A, XM_005262017.1:c.390G>A, XM_005262019.4:c.81G>A, XM_005262019.3:c.81G>A, XM_005262019.2:c.81G>A, XM_005262019.1:c.81G>A, XM_017029599.3:c.81G>A, XM_017029599.2:c.219G>A, XM_017029599.1:c.219G>A, XM_017029598.2:c.81G>A, XM_017029598.1:c.81G>A, XM_047442188.1:c.81G>A, NP_061876.3:p.Met27Ile, XP_005262073.3:p.Met27Ile, XP_005262074.3:p.Met27Ile, XP_005262076.1:p.Met27Ile, XP_016885088.2:p.Met27Ile, XP_016885087.1:p.Met27Ile, XP_047298144.1:p.Met27Ile

Select item 145762009510.

rs1457620095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:57135828 (GRCh38)
X:57162261 (GRCh37)
Canonical SPDI:: NC_000023.11:57135827:T:G
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.57135828T>G, NC_000023.10:g.57162261T>G, NG_016252.1:g.6798A>C, NM_019003.4:c.770A>C, NM_019003.5:c.770A>C, NM_019003.3:c.770A>C, XM_005262016.5:c.770A>C, XM_005262016.4:c.770A>C, XM_005262016.3:c.770A>C, XM_005262016.2:c.908A>C, XM_005262016.1:c.1082A>C, XM_005262017.5:c.770A>C, XM_005262017.4:c.770A>C, XM_005262017.3:c.770A>C, XM_005262017.2:c.905A>C, XM_005262017.1:c.1079A>C, XM_005262019.4:c.770A>C, XM_005262019.3:c.770A>C, XM_005262019.2:c.770A>C, XM_005262019.1:c.770A>C, XM_017029598.2:c.770A>C, XM_017029598.1:c.770A>C, XM_047442188.1:c.467A>C, NP_061876.3:p.Lys257Thr, XP_005262073.3:p.Lys257Thr, XP_005262074.3:p.Lys257Thr, XP_005262076.1:p.Lys257Thr, XP_016885087.1:p.Lys257Thr, XP_047298144.1:p.Lys156Thr

Select item 145658311211.

rs1456583112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:57136028 (GRCh38)
X:57162461 (GRCh37)
Canonical SPDI:: NC_000023.11:57136027:T:C
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.57136028T>C, NC_000023.10:g.57162461T>C, NG_016252.1:g.6598A>G, NM_019003.4:c.570A>G, NM_019003.5:c.570A>G, NM_019003.3:c.570A>G, XM_005262016.5:c.570A>G, XM_005262016.4:c.570A>G, XM_005262016.3:c.570A>G, XM_005262016.2:c.708A>G, XM_005262016.1:c.882A>G, XM_005262017.5:c.570A>G, XM_005262017.4:c.570A>G, XM_005262017.3:c.570A>G, XM_005262017.2:c.705A>G, XM_005262017.1:c.879A>G, XM_005262019.4:c.570A>G, XM_005262019.3:c.570A>G, XM_005262019.2:c.570A>G, XM_005262019.1:c.570A>G, XM_017029598.2:c.570A>G, XM_017029598.1:c.570A>G, XM_047442188.1:c.267A>G

Select item 144744092012.

rs1447440920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:57136419 (GRCh38)
X:57162852 (GRCh37)
Canonical SPDI:: NC_000023.11:57136418:T:G
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.57136419T>G, NC_000023.10:g.57162852T>G, NG_016252.1:g.6207A>C, NM_019003.4:c.179A>C, NM_019003.5:c.179A>C, NM_019003.3:c.179A>C, XM_005262016.5:c.179A>C, XM_005262016.4:c.179A>C, XM_005262016.3:c.179A>C, XM_005262016.2:c.317A>C, XM_005262016.1:c.491A>C, XM_005262017.5:c.179A>C, XM_005262017.4:c.179A>C, XM_005262017.3:c.179A>C, XM_005262017.2:c.314A>C, XM_005262017.1:c.488A>C, XM_005262019.4:c.179A>C, XM_005262019.3:c.179A>C, XM_005262019.2:c.179A>C, XM_005262019.1:c.179A>C, XM_017029599.3:c.179A>C, XM_017029599.2:c.317A>C, XM_017029599.1:c.317A>C, XM_017029598.2:c.179A>C, XM_017029598.1:c.179A>C, XM_047442188.1:c.179A>C, NP_061876.3:p.Glu60Ala, XP_005262073.3:p.Glu60Ala, XP_005262074.3:p.Glu60Ala, XP_005262076.1:p.Glu60Ala, XP_016885088.2:p.Glu60Ala, XP_016885087.1:p.Glu60Ala, XP_047298144.1:p.Glu60Ala

Select item 144241006713.

rs1442410067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:57136152 (GRCh38)
X:57162585 (GRCh37)
Canonical SPDI:: NC_000023.11:57136151:C:A
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.57136152C>A, NC_000023.10:g.57162585C>A, NG_016252.1:g.6474G>T, NM_019003.4:c.446G>T, NM_019003.5:c.446G>T, NM_019003.3:c.446G>T, XM_005262016.5:c.446G>T, XM_005262016.4:c.446G>T, XM_005262016.3:c.446G>T, XM_005262016.2:c.584G>T, XM_005262016.1:c.758G>T, XM_005262017.5:c.446G>T, XM_005262017.4:c.446G>T, XM_005262017.3:c.446G>T, XM_005262017.2:c.581G>T, XM_005262017.1:c.755G>T, XM_005262019.4:c.446G>T, XM_005262019.3:c.446G>T, XM_005262019.2:c.446G>T, XM_005262019.1:c.446G>T, XM_017029598.2:c.446G>T, XM_017029598.1:c.446G>T, NP_061876.3:p.Gly149Val, XP_005262073.3:p.Gly149Val, XP_005262074.3:p.Gly149Val, XP_005262076.1:p.Gly149Val, XP_016885087.1:p.Gly149Val

Select item 144104114914.

rs1441041149 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAA>- [Show Flanks]
Chromosome:: X:57136269 (GRCh38)
X:57162702 (GRCh37)
Canonical SPDI:: NC_000023.11:57136264:AGAAAGAA:AGAA
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAAGAA=0./0 (ALFA)
-=0.000006/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000011/1 (GnomAD)
HGVS:: NC_000023.11:g.57136265AGAA[1], NC_000023.10:g.57162698AGAA[1], NG_016252.1:g.6354TTCT[1], NM_019003.4:c.330_333del, NM_019003.5:c.330_333del, NM_019003.3:c.330_333del, XM_005262016.5:c.330_333del, XM_005262016.4:c.330_333del, XM_005262016.3:c.330_333del, XM_005262016.2:c.468_471del, XM_005262016.1:c.642_645del, XM_005262017.5:c.330_333del, XM_005262017.4:c.330_333del, XM_005262017.3:c.330_333del, XM_005262017.2:c.465_468del, XM_005262017.1:c.639_642del, XM_005262019.4:c.330_333del, XM_005262019.3:c.330_333del, XM_005262019.2:c.330_333del, XM_005262019.1:c.330_333del, XM_017029598.2:c.330_333del, XM_017029598.1:c.330_333del, NP_061876.3:p.Ser111fs, XP_005262073.3:p.Ser111fs, XP_005262074.3:p.Ser111fs, XP_005262076.1:p.Ser111fs, XP_016885087.1:p.Ser111fs

Select item 143222306115.

rs1432223061 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: X:57136357 (GRCh38)
X:57162790 (GRCh37)
Canonical SPDI:: NC_000023.11:57136352:AGAGAG:AGAG
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.57136353AG[2], NC_000023.10:g.57162786AG[2], NG_016252.1:g.6268CT[2], NM_019003.4:c.244_245del, NM_019003.5:c.244_245del, NM_019003.3:c.244_245del, XM_005262016.5:c.244_245del, XM_005262016.4:c.244_245del, XM_005262016.3:c.244_245del, XM_005262016.2:c.382_383del, XM_005262016.1:c.556_557del, XM_005262017.5:c.244_245del, XM_005262017.4:c.244_245del, XM_005262017.3:c.244_245del, XM_005262017.2:c.379_380del, XM_005262017.1:c.553_554del, XM_005262019.4:c.244_245del, XM_005262019.3:c.244_245del, XM_005262019.2:c.244_245del, XM_005262019.1:c.244_245del, XM_017029598.2:c.244_245del, XM_017029598.1:c.244_245del, NP_061876.3:p.Tyr83fs, XP_005262073.3:p.Tyr83fs, XP_005262074.3:p.Tyr83fs, XP_005262076.1:p.Tyr83fs, XP_016885087.1:p.Tyr83fs

Select item 143139994016.

rs1431399940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:57136116 (GRCh38)
X:57162549 (GRCh37)
Canonical SPDI:: NC_000023.11:57136115:C:G
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000023.11:g.57136116C>G, NC_000023.10:g.57162549C>G, NG_016252.1:g.6510G>C, NM_019003.4:c.482G>C, NM_019003.5:c.482G>C, NM_019003.3:c.482G>C, XM_005262016.5:c.482G>C, XM_005262016.4:c.482G>C, XM_005262016.3:c.482G>C, XM_005262016.2:c.620G>C, XM_005262016.1:c.794G>C, XM_005262017.5:c.482G>C, XM_005262017.4:c.482G>C, XM_005262017.3:c.482G>C, XM_005262017.2:c.617G>C, XM_005262017.1:c.791G>C, XM_005262019.4:c.482G>C, XM_005262019.3:c.482G>C, XM_005262019.2:c.482G>C, XM_005262019.1:c.482G>C, XM_017029598.2:c.482G>C, XM_017029598.1:c.482G>C, NP_061876.3:p.Trp161Ser, XP_005262073.3:p.Trp161Ser, XP_005262074.3:p.Trp161Ser, XP_005262076.1:p.Trp161Ser, XP_016885087.1:p.Trp161Ser

Select item 142893890217.

rs1428938902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:57136135 (GRCh38)
X:57162568 (GRCh37)
Canonical SPDI:: NC_000023.11:57136134:C:G
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.57136135C>G, NC_000023.10:g.57162568C>G, NG_016252.1:g.6491G>C, NM_019003.4:c.463G>C, NM_019003.5:c.463G>C, NM_019003.3:c.463G>C, XM_005262016.5:c.463G>C, XM_005262016.4:c.463G>C, XM_005262016.3:c.463G>C, XM_005262016.2:c.601G>C, XM_005262016.1:c.775G>C, XM_005262017.5:c.463G>C, XM_005262017.4:c.463G>C, XM_005262017.3:c.463G>C, XM_005262017.2:c.598G>C, XM_005262017.1:c.772G>C, XM_005262019.4:c.463G>C, XM_005262019.3:c.463G>C, XM_005262019.2:c.463G>C, XM_005262019.1:c.463G>C, XM_017029598.2:c.463G>C, XM_017029598.1:c.463G>C, NP_061876.3:p.Ala155Pro, XP_005262073.3:p.Ala155Pro, XP_005262074.3:p.Ala155Pro, XP_005262076.1:p.Ala155Pro, XP_016885087.1:p.Ala155Pro

Select item 142254384318.

rs1422543843 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:57136391 (GRCh38)
X:57162824 (GRCh37)
Canonical SPDI:: NC_000023.11:57136390:T:C
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.57136391T>C, NC_000023.10:g.57162824T>C, NG_016252.1:g.6235A>G, NM_019003.4:c.207A>G, NM_019003.5:c.207A>G, NM_019003.3:c.207A>G, XM_005262016.5:c.207A>G, XM_005262016.4:c.207A>G, XM_005262016.3:c.207A>G, XM_005262016.2:c.345A>G, XM_005262016.1:c.519A>G, XM_005262017.5:c.207A>G, XM_005262017.4:c.207A>G, XM_005262017.3:c.207A>G, XM_005262017.2:c.342A>G, XM_005262017.1:c.516A>G, XM_005262019.4:c.207A>G, XM_005262019.3:c.207A>G, XM_005262019.2:c.207A>G, XM_005262019.1:c.207A>G, XM_017029599.3:c.207A>G, XM_017029599.2:c.345A>G, XM_017029599.1:c.345A>G, XM_017029598.2:c.207A>G, XM_017029598.1:c.207A>G, XM_047442188.1:c.207A>G

Select item 142093339119.

rs1420933391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:57136016 (GRCh38)
X:57162449 (GRCh37)
Canonical SPDI:: NC_000023.11:57136015:C:G
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.57136016C>G, NC_000023.10:g.57162449C>G, NG_016252.1:g.6610G>C, NM_019003.4:c.582G>C, NM_019003.5:c.582G>C, NM_019003.3:c.582G>C, XM_005262016.5:c.582G>C, XM_005262016.4:c.582G>C, XM_005262016.3:c.582G>C, XM_005262016.2:c.720G>C, XM_005262016.1:c.894G>C, XM_005262017.5:c.582G>C, XM_005262017.4:c.582G>C, XM_005262017.3:c.582G>C, XM_005262017.2:c.717G>C, XM_005262017.1:c.891G>C, XM_005262019.4:c.582G>C, XM_005262019.3:c.582G>C, XM_005262019.2:c.582G>C, XM_005262019.1:c.582G>C, XM_017029598.2:c.582G>C, XM_017029598.1:c.582G>C, XM_047442188.1:c.279G>C, NP_061876.3:p.Glu194Asp, XP_005262073.3:p.Glu194Asp, XP_005262074.3:p.Glu194Asp, XP_005262076.1:p.Glu194Asp, XP_016885087.1:p.Glu194Asp, XP_047298144.1:p.Glu93Asp

Select item 142081212020.

rs1420812120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:57135899 (GRCh38)
X:57162332 (GRCh37)
Canonical SPDI:: NC_000023.11:57135898:T:C
Gene:: SPIN2A (Varview), FAAH2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.57135899T>C, NC_000023.10:g.57162332T>C, NG_016252.1:g.6727A>G, NM_019003.4:c.699A>G, NM_019003.5:c.699A>G, NM_019003.3:c.699A>G, XM_005262016.5:c.699A>G, XM_005262016.4:c.699A>G, XM_005262016.3:c.699A>G, XM_005262016.2:c.837A>G, XM_005262016.1:c.1011A>G, XM_005262017.5:c.699A>G, XM_005262017.4:c.699A>G, XM_005262017.3:c.699A>G, XM_005262017.2:c.834A>G, XM_005262017.1:c.1008A>G, XM_005262019.4:c.699A>G, XM_005262019.3:c.699A>G, XM_005262019.2:c.699A>G, XM_005262019.1:c.699A>G, XM_017029598.2:c.699A>G, XM_017029598.1:c.699A>G, XM_047442188.1:c.396A>G

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 198

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 198

Page of 10

Page of 10

Display Settings:

Supplemental Content

Find related data

Recent activity