SNP Links for Protein (Select 1018191662) - SNP

Links from Protein

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Select item 14900642341.

rs1490064234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:18352109 (GRCh38)
3:18393601 (GRCh37)
Canonical SPDI:: NC_000003.12:18352108:C:G
Gene:: SATB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.18352109C>G, NC_000003.11:g.18393601C>G, NG_027814.2:g.98480G>C, NM_002971.6:c.1662G>C, NM_002971.5:c.1662G>C, NM_002971.4:c.1662G>C, NM_001131010.4:c.1662G>C, NM_001131010.3:c.1662G>C, NM_001131010.2:c.1662G>C, NM_001195470.3:c.1662G>C, NM_001195470.2:c.1662G>C, NM_001195470.1:c.1662G>C, NM_001322871.2:c.1662G>C, NM_001322871.1:c.1662G>C, NM_001322873.2:c.1662G>C, NM_001322873.1:c.1662G>C, NM_001322872.2:c.1662G>C, NM_001322872.1:c.1662G>C, NM_001322874.2:c.1662G>C, NM_001322874.1:c.1662G>C, NM_001322875.2:c.1662G>C, NM_001322875.1:c.1662G>C, NM_001322876.2:c.1446G>C, NM_001322876.1:c.1446G>C, XM_011533988.4:c.1662G>C, XM_011533988.3:c.1662G>C, XM_011533988.2:c.1662G>C, XM_011533988.1:c.1662G>C, XM_011533989.3:c.1662G>C, XM_011533989.2:c.1662G>C, XM_011533989.1:c.1662G>C, NP_002962.1:p.Arg554Ser, NP_001124482.1:p.Arg554Ser, NP_001182399.1:p.Arg554Ser, NP_001309800.1:p.Arg554Ser, NP_001309802.1:p.Arg554Ser, NP_001309801.1:p.Arg554Ser, NP_001309803.1:p.Arg554Ser, NP_001309804.1:p.Arg554Ser, NP_001309805.1:p.Arg482Ser, XP_011532290.1:p.Arg554Ser, XP_011532291.1:p.Arg554Ser

Select item 14889530422.

rs1488953042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:18394828 (GRCh38)
3:18436320 (GRCh37)
Canonical SPDI:: NC_000003.12:18394827:C:G
Gene:: SATB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.18394828C>G, NC_000003.11:g.18436320C>G, NG_027814.2:g.55761G>C, NM_002971.6:c.840G>C, NM_002971.5:c.840G>C, NM_002971.4:c.840G>C, NM_001131010.4:c.840G>C, NM_001131010.3:c.840G>C, NM_001131010.2:c.840G>C, NM_001195470.3:c.840G>C, NM_001195470.2:c.840G>C, NM_001195470.1:c.840G>C, NM_001322871.2:c.840G>C, NM_001322871.1:c.840G>C, NM_001322873.2:c.840G>C, NM_001322873.1:c.840G>C, NM_001322872.2:c.840G>C, NM_001322872.1:c.840G>C, NM_001322874.2:c.840G>C, NM_001322874.1:c.840G>C, NM_001322875.2:c.840G>C, NM_001322875.1:c.840G>C, NM_001322876.2:c.624G>C, NM_001322876.1:c.624G>C, XM_011533990.4:c.840G>C, XM_011533990.3:c.840G>C, XM_011533990.2:c.840G>C, XM_011533990.1:c.840G>C, XM_011533988.4:c.840G>C, XM_011533988.3:c.840G>C, XM_011533988.2:c.840G>C, XM_011533988.1:c.840G>C, XM_011533989.3:c.840G>C, XM_011533989.2:c.840G>C, XM_011533989.1:c.840G>C, XM_047448683.1:c.840G>C, NP_002962.1:p.Glu280Asp, NP_001124482.1:p.Glu280Asp, NP_001182399.1:p.Glu280Asp, NP_001309800.1:p.Glu280Asp, NP_001309802.1:p.Glu280Asp, NP_001309801.1:p.Glu280Asp, NP_001309803.1:p.Glu280Asp, NP_001309804.1:p.Glu280Asp, NP_001309805.1:p.Glu208Asp, XP_011532292.1:p.Glu280Asp, XP_011532290.1:p.Glu280Asp, XP_011532291.1:p.Glu280Asp, XP_047304639.1:p.Glu280Asp

Select item 14839296963.

rs1483929696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:18394567 (GRCh38)
3:18436059 (GRCh37)
Canonical SPDI:: NC_000003.12:18394566:G:T
Gene:: SATB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.18394567G>T, NC_000003.11:g.18436059G>T, NG_027814.2:g.56022C>A, NM_002971.6:c.1101C>A, NM_002971.5:c.1101C>A, NM_002971.4:c.1101C>A, NM_001131010.4:c.1101C>A, NM_001131010.3:c.1101C>A, NM_001131010.2:c.1101C>A, NM_001195470.3:c.1101C>A, NM_001195470.2:c.1101C>A, NM_001195470.1:c.1101C>A, NM_001322871.2:c.1101C>A, NM_001322871.1:c.1101C>A, NM_001322873.2:c.1101C>A, NM_001322873.1:c.1101C>A, NM_001322872.2:c.1101C>A, NM_001322872.1:c.1101C>A, NM_001322874.2:c.1101C>A, NM_001322874.1:c.1101C>A, NM_001322875.2:c.1101C>A, NM_001322875.1:c.1101C>A, NM_001322876.2:c.885C>A, NM_001322876.1:c.885C>A, XM_011533990.4:c.1101C>A, XM_011533990.3:c.1101C>A, XM_011533990.2:c.1101C>A, XM_011533990.1:c.1101C>A, XM_011533988.4:c.1101C>A, XM_011533988.3:c.1101C>A, XM_011533988.2:c.1101C>A, XM_011533988.1:c.1101C>A, XM_011533989.3:c.1101C>A, XM_011533989.2:c.1101C>A, XM_011533989.1:c.1101C>A, XM_047448683.1:c.1101C>A

Select item 14838146004.

rs1483814600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:18386447 (GRCh38)
3:18427939 (GRCh37)
Canonical SPDI:: NC_000003.12:18386446:G:C
Gene:: SATB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.18386447G>C, NC_000003.11:g.18427939G>C, NG_027814.2:g.64142C>G, NM_002971.6:c.1371C>G, NM_002971.5:c.1371C>G, NM_002971.4:c.1371C>G, NM_001131010.4:c.1371C>G, NM_001131010.3:c.1371C>G, NM_001131010.2:c.1371C>G, NM_001195470.3:c.1371C>G, NM_001195470.2:c.1371C>G, NM_001195470.1:c.1371C>G, NM_001322871.2:c.1371C>G, NM_001322871.1:c.1371C>G, NM_001322873.2:c.1371C>G, NM_001322873.1:c.1371C>G, NM_001322872.2:c.1371C>G, NM_001322872.1:c.1371C>G, NM_001322874.2:c.1371C>G, NM_001322874.1:c.1371C>G, NM_001322875.2:c.1371C>G, NM_001322875.1:c.1371C>G, NM_001322876.2:c.1155C>G, NM_001322876.1:c.1155C>G, XM_011533990.4:c.1371C>G, XM_011533990.3:c.1371C>G, XM_011533990.2:c.1371C>G, XM_011533990.1:c.1371C>G, XM_011533988.4:c.1371C>G, XM_011533988.3:c.1371C>G, XM_011533988.2:c.1371C>G, XM_011533988.1:c.1371C>G, XM_011533989.3:c.1371C>G, XM_011533989.2:c.1371C>G, XM_011533989.1:c.1371C>G, XM_047448683.1:c.1371C>G

Select item 14825503585.

rs1482550358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:18349352 (GRCh38)
3:18390844 (GRCh37)
Canonical SPDI:: NC_000003.12:18349351:C:T
Gene:: SATB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.18349352C>T, NC_000003.11:g.18390844C>T, NG_027814.2:g.101237G>A, NM_002971.6:c.2110G>A, NM_002971.5:c.2110G>A, NM_002971.4:c.2110G>A, NM_001131010.4:c.2110G>A, NM_001131010.3:c.2110G>A, NM_001131010.2:c.2110G>A, NM_001195470.3:c.2206G>A, NM_001195470.2:c.2206G>A, NM_001195470.1:c.2206G>A, NM_001322871.2:c.2206G>A, NM_001322871.1:c.2206G>A, NM_001322873.2:c.2110G>A, NM_001322873.1:c.2110G>A, NM_001322872.2:c.2110G>A, NM_001322872.1:c.2110G>A, NM_001322874.2:c.2110G>A, NM_001322874.1:c.2110G>A, NM_001322875.2:c.2110G>A, NM_001322875.1:c.2110G>A, NM_001322876.2:c.1894G>A, NM_001322876.1:c.1894G>A, XM_011533988.4:c.2206G>A, XM_011533988.3:c.2206G>A, XM_011533988.2:c.2206G>A, XM_011533988.1:c.2206G>A, XM_011533989.3:c.2206G>A, XM_011533989.2:c.2206G>A, XM_011533989.1:c.2206G>A, NP_002962.1:p.Gly704Ser, NP_001124482.1:p.Gly704Ser, NP_001182399.1:p.Gly736Ser, NP_001309800.1:p.Gly736Ser, NP_001309802.1:p.Gly704Ser, NP_001309801.1:p.Gly704Ser, NP_001309803.1:p.Gly704Ser, NP_001309804.1:p.Gly704Ser, NP_001309805.1:p.Gly632Ser, XP_011532290.1:p.Gly736Ser, XP_011532291.1:p.Gly736Ser

Select item 14816601106.

rs1481660110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:18349306 (GRCh38)
3:18390798 (GRCh37)
Canonical SPDI:: NC_000003.12:18349305:T:A
Gene:: SATB1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.18349306T>A, NC_000003.11:g.18390798T>A, NG_027814.2:g.101283A>T, NM_002971.6:c.2156A>T, NM_002971.5:c.2156A>T, NM_002971.4:c.2156A>T, NM_001131010.4:c.2156A>T, NM_001131010.3:c.2156A>T, NM_001131010.2:c.2156A>T, NM_001195470.3:c.2252A>T, NM_001195470.2:c.2252A>T, NM_001195470.1:c.2252A>T, NM_001322871.2:c.2252A>T, NM_001322871.1:c.2252A>T, NM_001322873.2:c.2156A>T, NM_001322873.1:c.2156A>T, NM_001322872.2:c.2156A>T, NM_001322872.1:c.2156A>T, NM_001322874.2:c.2156A>T, NM_001322874.1:c.2156A>T, NM_001322875.2:c.2156A>T, NM_001322875.1:c.2156A>T, NM_001322876.2:c.1940A>T, NM_001322876.1:c.1940A>T, XM_011533988.4:c.2252A>T, XM_011533988.3:c.2252A>T, XM_011533988.2:c.2252A>T, XM_011533988.1:c.2252A>T, XM_011533989.3:c.2252A>T, XM_011533989.2:c.2252A>T, XM_011533989.1:c.2252A>T, NP_002962.1:p.Tyr719Phe, NP_001124482.1:p.Tyr719Phe, NP_001182399.1:p.Tyr751Phe, NP_001309800.1:p.Tyr751Phe, NP_001309802.1:p.Tyr719Phe, NP_001309801.1:p.Tyr719Phe, NP_001309803.1:p.Tyr719Phe, NP_001309804.1:p.Tyr719Phe, NP_001309805.1:p.Tyr647Phe, XP_011532290.1:p.Tyr751Phe, XP_011532291.1:p.Tyr751Phe

Select item 14806232947.

rs1480623294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:18386439 (GRCh38)
3:18427931 (GRCh37)
Canonical SPDI:: NC_000003.12:18386438:G:A
Gene:: SATB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000003.12:g.18386439G>A, NC_000003.11:g.18427931G>A, NG_027814.2:g.64150C>T, NM_002971.6:c.1379C>T, NM_002971.5:c.1379C>T, NM_002971.4:c.1379C>T, NM_001131010.4:c.1379C>T, NM_001131010.3:c.1379C>T, NM_001131010.2:c.1379C>T, NM_001195470.3:c.1379C>T, NM_001195470.2:c.1379C>T, NM_001195470.1:c.1379C>T, NM_001322871.2:c.1379C>T, NM_001322871.1:c.1379C>T, NM_001322873.2:c.1379C>T, NM_001322873.1:c.1379C>T, NM_001322872.2:c.1379C>T, NM_001322872.1:c.1379C>T, NM_001322874.2:c.1379C>T, NM_001322874.1:c.1379C>T, NM_001322875.2:c.1379C>T, NM_001322875.1:c.1379C>T, NM_001322876.2:c.1163C>T, NM_001322876.1:c.1163C>T, XM_011533990.4:c.1379C>T, XM_011533990.3:c.1379C>T, XM_011533990.2:c.1379C>T, XM_011533990.1:c.1379C>T, XM_011533988.4:c.1379C>T, XM_011533988.3:c.1379C>T, XM_011533988.2:c.1379C>T, XM_011533988.1:c.1379C>T, XM_011533989.3:c.1379C>T, XM_011533989.2:c.1379C>T, XM_011533989.1:c.1379C>T, XM_047448683.1:c.1379C>T, NP_002962.1:p.Pro460Leu, NP_001124482.1:p.Pro460Leu, NP_001182399.1:p.Pro460Leu, NP_001309800.1:p.Pro460Leu, NP_001309802.1:p.Pro460Leu, NP_001309801.1:p.Pro460Leu, NP_001309803.1:p.Pro460Leu, NP_001309804.1:p.Pro460Leu, NP_001309805.1:p.Pro388Leu, XP_011532292.1:p.Pro460Leu, XP_011532290.1:p.Pro460Leu, XP_011532291.1:p.Pro460Leu, XP_047304639.1:p.Pro460Leu

Select item 14796942108.

rs1479694210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:18352022 (GRCh38)
3:18393514 (GRCh37)
Canonical SPDI:: NC_000003.12:18352021:G:A
Gene:: SATB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.18352022G>A, NC_000003.11:g.18393514G>A, NG_027814.2:g.98567C>T, NM_002971.6:c.1749C>T, NM_002971.5:c.1749C>T, NM_002971.4:c.1749C>T, NM_001131010.4:c.1749C>T, NM_001131010.3:c.1749C>T, NM_001131010.2:c.1749C>T, NM_001195470.3:c.1749C>T, NM_001195470.2:c.1749C>T, NM_001195470.1:c.1749C>T, NM_001322871.2:c.1749C>T, NM_001322871.1:c.1749C>T, NM_001322873.2:c.1749C>T, NM_001322873.1:c.1749C>T, NM_001322872.2:c.1749C>T, NM_001322872.1:c.1749C>T, NM_001322874.2:c.1749C>T, NM_001322874.1:c.1749C>T, NM_001322875.2:c.1749C>T, NM_001322875.1:c.1749C>T, NM_001322876.2:c.1533C>T, NM_001322876.1:c.1533C>T, XM_011533988.4:c.1749C>T, XM_011533988.3:c.1749C>T, XM_011533988.2:c.1749C>T, XM_011533988.1:c.1749C>T, XM_011533989.3:c.1749C>T, XM_011533989.2:c.1749C>T, XM_011533989.1:c.1749C>T

Select item 14792662219.

rs1479266221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:18394826 (GRCh38)
3:18436318 (GRCh37)
Canonical SPDI:: NC_000003.12:18394825:T:G
Gene:: SATB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.18394826T>G, NC_000003.11:g.18436318T>G, NG_027814.2:g.55763A>C, NM_002971.6:c.842A>C, NM_002971.5:c.842A>C, NM_002971.4:c.842A>C, NM_001131010.4:c.842A>C, NM_001131010.3:c.842A>C, NM_001131010.2:c.842A>C, NM_001195470.3:c.842A>C, NM_001195470.2:c.842A>C, NM_001195470.1:c.842A>C, NM_001322871.2:c.842A>C, NM_001322871.1:c.842A>C, NM_001322873.2:c.842A>C, NM_001322873.1:c.842A>C, NM_001322872.2:c.842A>C, NM_001322872.1:c.842A>C, NM_001322874.2:c.842A>C, NM_001322874.1:c.842A>C, NM_001322875.2:c.842A>C, NM_001322875.1:c.842A>C, NM_001322876.2:c.626A>C, NM_001322876.1:c.626A>C, XM_011533990.4:c.842A>C, XM_011533990.3:c.842A>C, XM_011533990.2:c.842A>C, XM_011533990.1:c.842A>C, XM_011533988.4:c.842A>C, XM_011533988.3:c.842A>C, XM_011533988.2:c.842A>C, XM_011533988.1:c.842A>C, XM_011533989.3:c.842A>C, XM_011533989.2:c.842A>C, XM_011533989.1:c.842A>C, XM_047448683.1:c.842A>C, NP_002962.1:p.Gln281Pro, NP_001124482.1:p.Gln281Pro, NP_001182399.1:p.Gln281Pro, NP_001309800.1:p.Gln281Pro, NP_001309802.1:p.Gln281Pro, NP_001309801.1:p.Gln281Pro, NP_001309803.1:p.Gln281Pro, NP_001309804.1:p.Gln281Pro, NP_001309805.1:p.Gln209Pro, XP_011532292.1:p.Gln281Pro, XP_011532290.1:p.Gln281Pro, XP_011532291.1:p.Gln281Pro, XP_047304639.1:p.Gln281Pro

Select item 147750356610.

rs1477503566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:18349283 (GRCh38)
3:18390775 (GRCh37)
Canonical SPDI:: NC_000003.12:18349282:C:A
Gene:: SATB1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.18349283C>A, NC_000003.11:g.18390775C>A, NG_027814.2:g.101306G>T, NM_002971.6:c.2179G>T, NM_002971.5:c.2179G>T, NM_002971.4:c.2179G>T, NM_001131010.4:c.2179G>T, NM_001131010.3:c.2179G>T, NM_001131010.2:c.2179G>T, NM_001195470.3:c.2275G>T, NM_001195470.2:c.2275G>T, NM_001195470.1:c.2275G>T, NM_001322871.2:c.2275G>T, NM_001322871.1:c.2275G>T, NM_001322873.2:c.2179G>T, NM_001322873.1:c.2179G>T, NM_001322872.2:c.2179G>T, NM_001322872.1:c.2179G>T, NM_001322874.2:c.2179G>T, NM_001322874.1:c.2179G>T, NM_001322875.2:c.2179G>T, NM_001322875.1:c.2179G>T, NM_001322876.2:c.1963G>T, NM_001322876.1:c.1963G>T, XM_011533988.4:c.2275G>T, XM_011533988.3:c.2275G>T, XM_011533988.2:c.2275G>T, XM_011533988.1:c.2275G>T, XM_011533989.3:c.2275G>T, XM_011533989.2:c.2275G>T, XM_011533989.1:c.2275G>T, NP_002962.1:p.Asp727Tyr, NP_001124482.1:p.Asp727Tyr, NP_001182399.1:p.Asp759Tyr, NP_001309800.1:p.Asp759Tyr, NP_001309802.1:p.Asp727Tyr, NP_001309801.1:p.Asp727Tyr, NP_001309803.1:p.Asp727Tyr, NP_001309804.1:p.Asp727Tyr, NP_001309805.1:p.Asp655Tyr, XP_011532290.1:p.Asp759Tyr, XP_011532291.1:p.Asp759Tyr

Select item 147729681711.

rs1477296817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:18416912 (GRCh38)
3:18458404 (GRCh37)
Canonical SPDI:: NC_000003.12:18416911:G:A
Gene:: SATB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.18416912G>A, NC_000003.11:g.18458404G>A, NG_027814.2:g.33677C>T, NM_002971.6:c.378C>T, NM_002971.5:c.378C>T, NM_002971.4:c.378C>T, NM_001131010.4:c.378C>T, NM_001131010.3:c.378C>T, NM_001131010.2:c.378C>T, NM_001195470.3:c.378C>T, NM_001195470.2:c.378C>T, NM_001195470.1:c.378C>T, NM_001322871.2:c.378C>T, NM_001322871.1:c.378C>T, NM_001322873.2:c.378C>T, NM_001322873.1:c.378C>T, NM_001322872.2:c.378C>T, NM_001322872.1:c.378C>T, NM_001322874.2:c.378C>T, NM_001322874.1:c.378C>T, NM_001322875.2:c.378C>T, NM_001322875.1:c.378C>T, NM_001322876.2:c.162C>T, NM_001322876.1:c.162C>T, XM_011533990.4:c.378C>T, XM_011533990.3:c.378C>T, XM_011533990.2:c.378C>T, XM_011533990.1:c.378C>T, XM_011533988.4:c.378C>T, XM_011533988.3:c.378C>T, XM_011533988.2:c.378C>T, XM_011533988.1:c.378C>T, XM_011533989.3:c.378C>T, XM_011533989.2:c.378C>T, XM_011533989.1:c.378C>T, XM_047448683.1:c.378C>T

Select item 147635910012.

rs1476359100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:18416016 (GRCh38)
3:18457508 (GRCh37)
Canonical SPDI:: NC_000003.12:18416015:T:C
Gene:: SATB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.18416016T>C, NC_000003.11:g.18457508T>C, NG_027814.2:g.34573A>G, NM_002971.6:c.506A>G, NM_002971.5:c.506A>G, NM_002971.4:c.506A>G, NM_001131010.4:c.506A>G, NM_001131010.3:c.506A>G, NM_001131010.2:c.506A>G, NM_001195470.3:c.506A>G, NM_001195470.2:c.506A>G, NM_001195470.1:c.506A>G, NM_001322871.2:c.506A>G, NM_001322871.1:c.506A>G, NM_001322873.2:c.506A>G, NM_001322873.1:c.506A>G, NM_001322872.2:c.506A>G, NM_001322872.1:c.506A>G, NM_001322874.2:c.506A>G, NM_001322874.1:c.506A>G, NM_001322875.2:c.506A>G, NM_001322875.1:c.506A>G, NM_001322876.2:c.290A>G, NM_001322876.1:c.290A>G, XM_011533990.4:c.506A>G, XM_011533990.3:c.506A>G, XM_011533990.2:c.506A>G, XM_011533990.1:c.506A>G, XM_011533988.4:c.506A>G, XM_011533988.3:c.506A>G, XM_011533988.2:c.506A>G, XM_011533988.1:c.506A>G, XM_011533989.3:c.506A>G, XM_011533989.2:c.506A>G, XM_011533989.1:c.506A>G, XM_047448683.1:c.506A>G, NP_002962.1:p.Gln169Arg, NP_001124482.1:p.Gln169Arg, NP_001182399.1:p.Gln169Arg, NP_001309800.1:p.Gln169Arg, NP_001309802.1:p.Gln169Arg, NP_001309801.1:p.Gln169Arg, NP_001309803.1:p.Gln169Arg, NP_001309804.1:p.Gln169Arg, NP_001309805.1:p.Gln97Arg, XP_011532292.1:p.Gln169Arg, XP_011532290.1:p.Gln169Arg, XP_011532291.1:p.Gln169Arg, XP_047304639.1:p.Gln169Arg

Select item 147593455713.

rs1475934557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:18349395 (GRCh38)
3:18390887 (GRCh37)
Canonical SPDI:: NC_000003.12:18349394:G:C
Gene:: SATB1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.18349395G>C, NC_000003.11:g.18390887G>C, NG_027814.2:g.101194C>G, NM_002971.6:c.2067C>G, NM_002971.5:c.2067C>G, NM_002971.4:c.2067C>G, NM_001131010.4:c.2067C>G, NM_001131010.3:c.2067C>G, NM_001131010.2:c.2067C>G, NM_001195470.3:c.2163C>G, NM_001195470.2:c.2163C>G, NM_001195470.1:c.2163C>G, NM_001322871.2:c.2163C>G, NM_001322871.1:c.2163C>G, NM_001322873.2:c.2067C>G, NM_001322873.1:c.2067C>G, NM_001322872.2:c.2067C>G, NM_001322872.1:c.2067C>G, NM_001322874.2:c.2067C>G, NM_001322874.1:c.2067C>G, NM_001322875.2:c.2067C>G, NM_001322875.1:c.2067C>G, NM_001322876.2:c.1851C>G, NM_001322876.1:c.1851C>G, XM_011533988.4:c.2163C>G, XM_011533988.3:c.2163C>G, XM_011533988.2:c.2163C>G, XM_011533988.1:c.2163C>G, XM_011533989.3:c.2163C>G, XM_011533989.2:c.2163C>G, XM_011533989.1:c.2163C>G, NP_002962.1:p.Ile689Met, NP_001124482.1:p.Ile689Met, NP_001182399.1:p.Ile721Met, NP_001309800.1:p.Ile721Met, NP_001309802.1:p.Ile689Met, NP_001309801.1:p.Ile689Met, NP_001309803.1:p.Ile689Met, NP_001309804.1:p.Ile689Met, NP_001309805.1:p.Ile617Met, XP_011532290.1:p.Ile721Met, XP_011532291.1:p.Ile721Met

Select item 147363075714.

rs1473630757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:18416093 (GRCh38)
3:18457585 (GRCh37)
Canonical SPDI:: NC_000003.12:18416092:A:G
Gene:: SATB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.18416093A>G, NC_000003.11:g.18457585A>G, NG_027814.2:g.34496T>C, NM_002971.6:c.429T>C, NM_002971.5:c.429T>C, NM_002971.4:c.429T>C, NM_001131010.4:c.429T>C, NM_001131010.3:c.429T>C, NM_001131010.2:c.429T>C, NM_001195470.3:c.429T>C, NM_001195470.2:c.429T>C, NM_001195470.1:c.429T>C, NM_001322871.2:c.429T>C, NM_001322871.1:c.429T>C, NM_001322873.2:c.429T>C, NM_001322873.1:c.429T>C, NM_001322872.2:c.429T>C, NM_001322872.1:c.429T>C, NM_001322874.2:c.429T>C, NM_001322874.1:c.429T>C, NM_001322875.2:c.429T>C, NM_001322875.1:c.429T>C, NM_001322876.2:c.213T>C, NM_001322876.1:c.213T>C, XM_011533990.4:c.429T>C, XM_011533990.3:c.429T>C, XM_011533990.2:c.429T>C, XM_011533990.1:c.429T>C, XM_011533988.4:c.429T>C, XM_011533988.3:c.429T>C, XM_011533988.2:c.429T>C, XM_011533988.1:c.429T>C, XM_011533989.3:c.429T>C, XM_011533989.2:c.429T>C, XM_011533989.1:c.429T>C, XM_047448683.1:c.429T>C

Select item 147009970915.

rs1470099709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:18349620 (GRCh38)
3:18391112 (GRCh37)
Canonical SPDI:: NC_000003.12:18349619:T:G
Gene:: SATB1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_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_000003.12:g.18349620T>G, NC_000003.11:g.18391112T>G, NG_027814.2:g.100969A>C, NM_002971.6:c.1842A>C, NM_002971.5:c.1842A>C, NM_002971.4:c.1842A>C, NM_001131010.4:c.1842A>C, NM_001131010.3:c.1842A>C, NM_001131010.2:c.1842A>C, NM_001195470.3:c.1938A>C, NM_001195470.2:c.1938A>C, NM_001195470.1:c.1938A>C, NM_001322871.2:c.1938A>C, NM_001322871.1:c.1938A>C, NM_001322873.2:c.1842A>C, NM_001322873.1:c.1842A>C, NM_001322872.2:c.1842A>C, NM_001322872.1:c.1842A>C, NM_001322874.2:c.1842A>C, NM_001322874.1:c.1842A>C, NM_001322875.2:c.1842A>C, NM_001322875.1:c.1842A>C, NM_001322876.2:c.1626A>C, NM_001322876.1:c.1626A>C, XM_011533988.4:c.1938A>C, XM_011533988.3:c.1938A>C, XM_011533988.2:c.1938A>C, XM_011533988.1:c.1938A>C, XM_011533989.3:c.1938A>C, XM_011533989.2:c.1938A>C, XM_011533989.1:c.1938A>C

Select item 146295605616.

rs1462956056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:18349680 (GRCh38)
3:18391172 (GRCh37)
Canonical SPDI:: NC_000003.12:18349679:T:C
Gene:: SATB1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.18349680T>C, NC_000003.11:g.18391172T>C, NG_027814.2:g.100909A>G, NM_002971.6:c.1782A>G, NM_002971.5:c.1782A>G, NM_002971.4:c.1782A>G, NM_001131010.4:c.1782A>G, NM_001131010.3:c.1782A>G, NM_001131010.2:c.1782A>G, NM_001195470.3:c.1878A>G, NM_001195470.2:c.1878A>G, NM_001195470.1:c.1878A>G, NM_001322871.2:c.1878A>G, NM_001322871.1:c.1878A>G, NM_001322873.2:c.1782A>G, NM_001322873.1:c.1782A>G, NM_001322872.2:c.1782A>G, NM_001322872.1:c.1782A>G, NM_001322874.2:c.1782A>G, NM_001322874.1:c.1782A>G, NM_001322875.2:c.1782A>G, NM_001322875.1:c.1782A>G, NM_001322876.2:c.1566A>G, NM_001322876.1:c.1566A>G, XM_011533988.4:c.1878A>G, XM_011533988.3:c.1878A>G, XM_011533988.2:c.1878A>G, XM_011533988.1:c.1878A>G, XM_011533989.3:c.1878A>G, XM_011533989.2:c.1878A>G, XM_011533989.1:c.1878A>G

Select item 146224966117.

rs1462249661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:18349466 (GRCh38)
3:18390958 (GRCh37)
Canonical SPDI:: NC_000003.12:18349465:C:T
Gene:: SATB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.18349466C>T, NC_000003.11:g.18390958C>T, NG_027814.2:g.101123G>A, NM_002971.6:c.1996G>A, NM_002971.5:c.1996G>A, NM_002971.4:c.1996G>A, NM_001131010.4:c.1996G>A, NM_001131010.3:c.1996G>A, NM_001131010.2:c.1996G>A, NM_001195470.3:c.2092G>A, NM_001195470.2:c.2092G>A, NM_001195470.1:c.2092G>A, NM_001322871.2:c.2092G>A, NM_001322871.1:c.2092G>A, NM_001322873.2:c.1996G>A, NM_001322873.1:c.1996G>A, NM_001322872.2:c.1996G>A, NM_001322872.1:c.1996G>A, NM_001322874.2:c.1996G>A, NM_001322874.1:c.1996G>A, NM_001322875.2:c.1996G>A, NM_001322875.1:c.1996G>A, NM_001322876.2:c.1780G>A, NM_001322876.1:c.1780G>A, XM_011533988.4:c.2092G>A, XM_011533988.3:c.2092G>A, XM_011533988.2:c.2092G>A, XM_011533988.1:c.2092G>A, XM_011533989.3:c.2092G>A, XM_011533989.2:c.2092G>A, XM_011533989.1:c.2092G>A, NP_002962.1:p.Val666Met, NP_001124482.1:p.Val666Met, NP_001182399.1:p.Val698Met, NP_001309800.1:p.Val698Met, NP_001309802.1:p.Val666Met, NP_001309801.1:p.Val666Met, NP_001309803.1:p.Val666Met, NP_001309804.1:p.Val666Met, NP_001309805.1:p.Val594Met, XP_011532290.1:p.Val698Met, XP_011532291.1:p.Val698Met

Select item 146071066018.

rs1460710660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:18394531 (GRCh38)
3:18436023 (GRCh37)
Canonical SPDI:: NC_000003.12:18394530:T:C
Gene:: SATB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.18394531T>C, NC_000003.11:g.18436023T>C, NG_027814.2:g.56058A>G, NM_002971.6:c.1137A>G, NM_002971.5:c.1137A>G, NM_002971.4:c.1137A>G, NM_001131010.4:c.1137A>G, NM_001131010.3:c.1137A>G, NM_001131010.2:c.1137A>G, NM_001195470.3:c.1137A>G, NM_001195470.2:c.1137A>G, NM_001195470.1:c.1137A>G, NM_001322871.2:c.1137A>G, NM_001322871.1:c.1137A>G, NM_001322873.2:c.1137A>G, NM_001322873.1:c.1137A>G, NM_001322872.2:c.1137A>G, NM_001322872.1:c.1137A>G, NM_001322874.2:c.1137A>G, NM_001322874.1:c.1137A>G, NM_001322875.2:c.1137A>G, NM_001322875.1:c.1137A>G, NM_001322876.2:c.921A>G, NM_001322876.1:c.921A>G, XM_011533990.4:c.1137A>G, XM_011533990.3:c.1137A>G, XM_011533990.2:c.1137A>G, XM_011533990.1:c.1137A>G, XM_011533988.4:c.1137A>G, XM_011533988.3:c.1137A>G, XM_011533988.2:c.1137A>G, XM_011533988.1:c.1137A>G, XM_011533989.3:c.1137A>G, XM_011533989.2:c.1137A>G, XM_011533989.1:c.1137A>G, XM_047448683.1:c.1137A>G

Select item 145807687519.

rs1458076875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:18417002 (GRCh38)
3:18458494 (GRCh37)
Canonical SPDI:: NC_000003.12:18417001:T:A
Gene:: SATB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.18417002T>A, NC_000003.11:g.18458494T>A, NG_027814.2:g.33587A>T, NM_002971.6:c.288A>T, NM_002971.5:c.288A>T, NM_002971.4:c.288A>T, NM_001131010.4:c.288A>T, NM_001131010.3:c.288A>T, NM_001131010.2:c.288A>T, NM_001195470.3:c.288A>T, NM_001195470.2:c.288A>T, NM_001195470.1:c.288A>T, NM_001322871.2:c.288A>T, NM_001322871.1:c.288A>T, NM_001322873.2:c.288A>T, NM_001322873.1:c.288A>T, NM_001322872.2:c.288A>T, NM_001322872.1:c.288A>T, NM_001322874.2:c.288A>T, NM_001322874.1:c.288A>T, NM_001322875.2:c.288A>T, NM_001322875.1:c.288A>T, NM_001322876.2:c.72A>T, NM_001322876.1:c.72A>T, XM_011533990.4:c.288A>T, XM_011533990.3:c.288A>T, XM_011533990.2:c.288A>T, XM_011533990.1:c.288A>T, XM_011533988.4:c.288A>T, XM_011533988.3:c.288A>T, XM_011533988.2:c.288A>T, XM_011533988.1:c.288A>T, XM_011533989.3:c.288A>T, XM_011533989.2:c.288A>T, XM_011533989.1:c.288A>T, XM_047448683.1:c.288A>T

Select item 145722560220.

rs1457225602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:18416090 (GRCh38)
3:18457582 (GRCh37)
Canonical SPDI:: NC_000003.12:18416089:G:A
Gene:: SATB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.18416090G>A, NC_000003.11:g.18457582G>A, NG_027814.2:g.34499C>T, NM_002971.6:c.432C>T, NM_002971.5:c.432C>T, NM_002971.4:c.432C>T, NM_001131010.4:c.432C>T, NM_001131010.3:c.432C>T, NM_001131010.2:c.432C>T, NM_001195470.3:c.432C>T, NM_001195470.2:c.432C>T, NM_001195470.1:c.432C>T, NM_001322871.2:c.432C>T, NM_001322871.1:c.432C>T, NM_001322873.2:c.432C>T, NM_001322873.1:c.432C>T, NM_001322872.2:c.432C>T, NM_001322872.1:c.432C>T, NM_001322874.2:c.432C>T, NM_001322874.1:c.432C>T, NM_001322875.2:c.432C>T, NM_001322875.1:c.432C>T, NM_001322876.2:c.216C>T, NM_001322876.1:c.216C>T, XM_011533990.4:c.432C>T, XM_011533990.3:c.432C>T, XM_011533990.2:c.432C>T, XM_011533990.1:c.432C>T, XM_011533988.4:c.432C>T, XM_011533988.3:c.432C>T, XM_011533988.2:c.432C>T, XM_011533988.1:c.432C>T, XM_011533989.3:c.432C>T, XM_011533989.2:c.432C>T, XM_011533989.1:c.432C>T, XM_047448683.1:c.432C>T

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