SNP Links for Protein (Select 237649111) - SNP

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:22995877 (GRCh38)
8:22853390 (GRCh37)
Canonical SPDI:: NC_000008.11:22995876:A:T
Gene:: RHOBTB2 (Varview), LOC107984124 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22995877A>T, NC_000008.10:g.22853390A>T, NG_047133.1:g.13620A>T, NM_001160037.2:c.6A>T, NM_001160037.1:c.6A>T, NP_001153509.1:p.Lys2Asn

Select item 147241149714.

rs1472411497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:23007379 (GRCh38)
8:22864892 (GRCh37)
Canonical SPDI:: NC_000008.11:23007378:C:A,NC_000008.11:23007378:C:T
Gene:: RHOBTB2 (Varview)
Functional Consequence:: synonymous_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.23007379C>A, NC_000008.11:g.23007379C>T, NC_000008.10:g.22864892C>A, NC_000008.10:g.22864892C>T, NG_047133.1:g.25122C>A, NG_047133.1:g.25122C>T, NM_015178.3:c.1134C>A, NM_015178.3:c.1134C>T, NM_015178.2:c.1134C>A, NM_015178.2:c.1134C>T, NM_001160036.2:c.1200C>A, NM_001160036.2:c.1200C>T, NM_001160036.1:c.1200C>A, NM_001160036.1:c.1200C>T, NM_001160037.2:c.1155C>A, NM_001160037.2:c.1155C>T, NM_001160037.1:c.1155C>A, NM_001160037.1:c.1155C>T, NM_001374791.1:c.1134C>A, NM_001374791.1:c.1134C>T, XM_047421610.1:c.1200C>A, XM_047421610.1:c.1200C>T, XM_047421607.1:c.1200C>A, XM_047421607.1:c.1200C>T, XM_047421608.1:c.1200C>A, XM_047421608.1:c.1200C>T, XM_047421611.1:c.1200C>A, XM_047421611.1:c.1200C>T, XM_047421609.1:c.1200C>A, XM_047421609.1:c.1200C>T, NP_055993.2:p.Tyr378Ter, NP_001153508.1:p.Tyr400Ter, NP_001153509.1:p.Tyr385Ter, NP_001361720.1:p.Tyr378Ter, XP_047277566.1:p.Tyr400Ter, XP_047277563.1:p.Tyr400Ter, XP_047277564.1:p.Tyr400Ter, XP_047277567.1:p.Tyr400Ter, XP_047277565.1:p.Tyr400Ter

Select item 146996622315.

rs1469966223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:23006809 (GRCh38)
8:22864322 (GRCh37)
Canonical SPDI:: NC_000008.11:23006808:C:G
Gene:: RHOBTB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.23006809C>G, NC_000008.10:g.22864322C>G, NG_047133.1:g.24552C>G, NM_015178.3:c.564C>G, NM_015178.2:c.564C>G, NM_001160036.2:c.630C>G, NM_001160036.1:c.630C>G, NM_001160037.2:c.585C>G, NM_001160037.1:c.585C>G, NM_001374791.1:c.564C>G, XM_047421610.1:c.630C>G, XM_047421607.1:c.630C>G, XM_047421608.1:c.630C>G, XM_047421611.1:c.630C>G, XM_047421609.1:c.630C>G

Select item 146890876916.

rs1468908769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:23010546 (GRCh38)
8:22868059 (GRCh37)
Canonical SPDI:: NC_000008.11:23010545:T:A
Gene:: RHOBTB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.23010546T>A, NC_000008.10:g.22868059T>A, NG_047133.1:g.28289T>A, NM_015178.3:c.1629T>A, NM_015178.2:c.1629T>A, NM_001160036.2:c.1695T>A, NM_001160036.1:c.1695T>A, NM_001160037.2:c.1650T>A, NM_001160037.1:c.1650T>A, NM_001374791.1:c.1629T>A, XM_047421610.1:c.1695T>A, XM_047421607.1:c.1695T>A, XM_047421608.1:c.1695T>A, XM_047421611.1:c.1695T>A, XM_047421609.1:c.1695T>A, NP_055993.2:p.Phe543Leu, NP_001153508.1:p.Phe565Leu, NP_001153509.1:p.Phe550Leu, NP_001361720.1:p.Phe543Leu, XP_047277566.1:p.Phe565Leu, XP_047277563.1:p.Phe565Leu, XP_047277564.1:p.Phe565Leu, XP_047277567.1:p.Phe565Leu, XP_047277565.1:p.Phe565Leu

Select item 146843019817.

rs1468430198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:23010607 (GRCh38)
8:22868120 (GRCh37)
Canonical SPDI:: NC_000008.11:23010606:A:C,NC_000008.11:23010606:A:G
Gene:: RHOBTB2 (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=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.23010607A>C, NC_000008.11:g.23010607A>G, NC_000008.10:g.22868120A>C, NC_000008.10:g.22868120A>G, NG_047133.1:g.28350A>C, NG_047133.1:g.28350A>G, NM_015178.3:c.1690A>C, NM_015178.3:c.1690A>G, NM_015178.2:c.1690A>C, NM_015178.2:c.1690A>G, NM_001160036.2:c.1756A>C, NM_001160036.2:c.1756A>G, NM_001160036.1:c.1756A>C, NM_001160036.1:c.1756A>G, NM_001160037.2:c.1711A>C, NM_001160037.2:c.1711A>G, NM_001160037.1:c.1711A>C, NM_001160037.1:c.1711A>G, NM_001374791.1:c.1690A>C, NM_001374791.1:c.1690A>G, XM_047421610.1:c.1756A>C, XM_047421610.1:c.1756A>G, XM_047421607.1:c.1756A>C, XM_047421607.1:c.1756A>G, XM_047421608.1:c.1756A>C, XM_047421608.1:c.1756A>G, XM_047421611.1:c.1756A>C, XM_047421611.1:c.1756A>G, XM_047421609.1:c.1756A>C, XM_047421609.1:c.1756A>G, NP_055993.2:p.Thr564Pro, NP_055993.2:p.Thr564Ala, NP_001153508.1:p.Thr586Pro, NP_001153508.1:p.Thr586Ala, NP_001153509.1:p.Thr571Pro, NP_001153509.1:p.Thr571Ala, NP_001361720.1:p.Thr564Pro, NP_001361720.1:p.Thr564Ala, XP_047277566.1:p.Thr586Pro, XP_047277566.1:p.Thr586Ala, XP_047277563.1:p.Thr586Pro, XP_047277563.1:p.Thr586Ala, XP_047277564.1:p.Thr586Pro, XP_047277564.1:p.Thr586Ala, XP_047277567.1:p.Thr586Pro, XP_047277567.1:p.Thr586Ala, XP_047277565.1:p.Thr586Pro, XP_047277565.1:p.Thr586Ala

Select item 146683687718.

rs1466836877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:23007128 (GRCh38)
8:22864641 (GRCh37)
Canonical SPDI:: NC_000008.11:23007127:C:G
Gene:: RHOBTB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.23007128C>G, NC_000008.10:g.22864641C>G, NG_047133.1:g.24871C>G, NM_015178.3:c.883C>G, NM_015178.2:c.883C>G, NM_001160036.2:c.949C>G, NM_001160036.1:c.949C>G, NM_001160037.2:c.904C>G, NM_001160037.1:c.904C>G, NM_001374791.1:c.883C>G, XM_047421610.1:c.949C>G, XM_047421607.1:c.949C>G, XM_047421608.1:c.949C>G, XM_047421611.1:c.949C>G, XM_047421609.1:c.949C>G, NP_055993.2:p.Leu295Val, NP_001153508.1:p.Leu317Val, NP_001153509.1:p.Leu302Val, NP_001361720.1:p.Leu295Val, XP_047277566.1:p.Leu317Val, XP_047277563.1:p.Leu317Val, XP_047277564.1:p.Leu317Val, XP_047277567.1:p.Leu317Val, XP_047277565.1:p.Leu317Val

Select item 146565579219.

rs1465655792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:23007532 (GRCh38)
8:22865045 (GRCh37)
Canonical SPDI:: NC_000008.11:23007531:C:T
Gene:: RHOBTB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.23007532C>T, NC_000008.10:g.22865045C>T, NG_047133.1:g.25275C>T, NM_015178.3:c.1287C>T, NM_015178.2:c.1287C>T, NM_001160036.2:c.1353C>T, NM_001160036.1:c.1353C>T, NM_001160037.2:c.1308C>T, NM_001160037.1:c.1308C>T, NM_001374791.1:c.1287C>T, XM_047421610.1:c.1353C>T, XM_047421607.1:c.1353C>T, XM_047421608.1:c.1353C>T, XM_047421611.1:c.1353C>T, XM_047421609.1:c.1353C>T

Select item 146422720420.

rs1464227204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:23017284 (GRCh38)
8:22874797 (GRCh37)
Canonical SPDI:: NC_000008.11:23017283:C:G
Gene:: RHOBTB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.23017284C>G, NC_000008.10:g.22874797C>G, NG_047133.1:g.35027C>G, NM_015178.3:c.1999C>G, NM_015178.2:c.1999C>G, NM_001160036.2:c.2065C>G, NM_001160036.1:c.2065C>G, NM_001160037.2:c.2020C>G, NM_001160037.1:c.2020C>G, NM_001374791.1:c.1999C>G, XM_047421610.1:c.2065C>G, XM_047421607.1:c.2065C>G, XM_047421608.1:c.2065C>G, XM_047421611.1:c.2065C>G, XM_047421609.1:c.2065C>G, NP_055993.2:p.Pro667Ala, NP_001153508.1:p.Pro689Ala, NP_001153509.1:p.Pro674Ala, NP_001361720.1:p.Pro667Ala, XP_047277566.1:p.Pro689Ala, XP_047277563.1:p.Pro689Ala, XP_047277564.1:p.Pro689Ala, XP_047277567.1:p.Pro689Ala, XP_047277565.1:p.Pro689Ala

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 747

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Supplemental Content

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