SNP Links for Protein (Select 148235002) - SNP

Links from Protein

Items: 1 to 20 of 265

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Select item 14876669581.

rs1487666958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:15735624 (GRCh38)
17:15638938 (GRCh37)
Canonical SPDI:: NC_000017.11:15735623:T:C
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000017.11:g.15735624T>C, NC_000017.10:g.15638938T>C, NM_178571.4:c.103T>C, NR_171000.1:n.2292T>C, NM_001388465.1:c.103T>C

Select item 14852095722.

rs1485209572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:15741151 (GRCh38)
17:15644465 (GRCh37)
Canonical SPDI:: NC_000017.11:15741150:C:A
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.15741151C>A, NC_000017.10:g.15644465C>A, NM_178571.4:c.576C>A, NR_171000.1:n.2765C>A, NM_001388465.1:c.576C>A

Select item 14844087643.

rs1484408764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:15738787 (GRCh38)
17:15642101 (GRCh37)
Canonical SPDI:: NC_000017.11:15738786:A:G
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.15738787A>G, NC_000017.10:g.15642101A>G, NM_178571.4:c.454A>G, NR_171000.1:n.2643A>G, NM_001388465.1:c.454A>G, NP_848666.2:p.Thr152Ala, NP_001375394.1:p.Thr152Ala

Select item 14804333664.

rs1480433366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:15737499 (GRCh38)
17:15640813 (GRCh37)
Canonical SPDI:: NC_000017.11:15737498:C:T
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15737499C>T, NC_000017.10:g.15640813C>T, NM_178571.4:c.174C>T, NR_171000.1:n.2363C>T, NM_001388465.1:c.174C>T

Select item 14801708485.

rs1480170848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:15738802 (GRCh38)
17:15642116 (GRCh37)
Canonical SPDI:: NC_000017.11:15738801:A:G
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15738802A>G, NC_000017.10:g.15642116A>G, NM_178571.4:c.469A>G, NR_171000.1:n.2658A>G, NM_001388465.1:c.469A>G, NP_848666.2:p.Met157Val, NP_001375394.1:p.Met157Val

Select item 14695307116.

rs1469530711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15738764 (GRCh38)
17:15642078 (GRCh37)
Canonical SPDI:: NC_000017.11:15738763:G:A
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.15738764G>A, NC_000017.10:g.15642078G>A, NM_178571.4:c.431G>A, NR_171000.1:n.2620G>A, NM_001388465.1:c.431G>A, NP_848666.2:p.Cys144Tyr, NP_001375394.1:p.Cys144Tyr

Select item 14693622147.

rs1469362214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:15738295 (GRCh38)
17:15641609 (GRCh37)
Canonical SPDI:: NC_000017.11:15738294:T:C,NC_000017.11:15738294:T:G
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.15738295T>C, NC_000017.11:g.15738295T>G, NC_000017.10:g.15641609T>C, NC_000017.10:g.15641609T>G, NM_178571.4:c.295T>C, NM_178571.4:c.295T>G, NR_171000.1:n.2484T>C, NR_171000.1:n.2484T>G, NM_001388465.1:c.295T>C, NM_001388465.1:c.295T>G, NP_848666.2:p.Tyr99His, NP_848666.2:p.Tyr99Asp, NP_001375394.1:p.Tyr99His, NP_001375394.1:p.Tyr99Asp

Select item 14673264278.

rs1467326427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:15738812 (GRCh38)
17:15642126 (GRCh37)
Canonical SPDI:: NC_000017.11:15738811:T:C
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15738812T>C, NC_000017.10:g.15642126T>C, NM_178571.4:c.479T>C, NR_171000.1:n.2668T>C, NM_001388465.1:c.479T>C, NP_848666.2:p.Ile160Thr, NP_001375394.1:p.Ile160Thr

Select item 14670477219.

rs1467047721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:15738001 (GRCh38)
17:15641315 (GRCh37)
Canonical SPDI:: NC_000017.11:15738000:G:C
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.15738001G>C, NC_000017.10:g.15641315G>C, NM_178571.4:c.203G>C, NR_171000.1:n.2392G>C, NM_001388465.1:c.203G>C, NP_848666.2:p.Arg68Thr, NP_001375394.1:p.Arg68Thr

Select item 146420127710.

rs1464201277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:15741188 (GRCh38)
17:15644502 (GRCh37)
Canonical SPDI:: NC_000017.11:15741187:G:T
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15741188G>T, NC_000017.10:g.15644502G>T, NM_178571.4:c.613G>T, NR_171000.1:n.2802G>T, NM_001388465.1:c.613G>T, NP_848666.2:p.Asp205Tyr, NP_001375394.1:p.Asp205Tyr

Select item 146225099211.

rs1462250992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:15737510 (GRCh38)
17:15640824 (GRCh37)
Canonical SPDI:: NC_000017.11:15737509:C:T
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.15737510C>T, NC_000017.10:g.15640824C>T, NM_178571.4:c.185C>T, NR_171000.1:n.2374C>T, NM_001388465.1:c.185C>T, NP_848666.2:p.Ala62Val, NP_001375394.1:p.Ala62Val

Select item 145893303712.

rs1458933037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15735611 (GRCh38)
17:15638925 (GRCh37)
Canonical SPDI:: NC_000017.11:15735610:G:A
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.15735611G>A, NC_000017.10:g.15638925G>A, NM_178571.4:c.90G>A, NR_171000.1:n.2279G>A, NM_001388465.1:c.90G>A

Select item 145481629213.

rs1454816292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15735604 (GRCh38)
17:15638918 (GRCh37)
Canonical SPDI:: NC_000017.11:15735603:G:A
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000012/1 (GnomAD_exomes)
A=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.15735604G>A, NC_000017.10:g.15638918G>A, NM_178571.4:c.83G>A, NR_171000.1:n.2272G>A, NM_001388465.1:c.83G>A, NP_848666.2:p.Arg28Gln, NP_001375394.1:p.Arg28Gln

Select item 145431613214.

rs1454316132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:15738748 (GRCh38)
17:15642062 (GRCh37)
Canonical SPDI:: NC_000017.11:15738747:T:A,NC_000017.11:15738747:T:C
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.15738748T>A, NC_000017.11:g.15738748T>C, NC_000017.10:g.15642062T>A, NC_000017.10:g.15642062T>C, NM_178571.4:c.415T>A, NM_178571.4:c.415T>C, NR_171000.1:n.2604T>A, NR_171000.1:n.2604T>C, NM_001388465.1:c.415T>A, NM_001388465.1:c.415T>C, NP_848666.2:p.Ser139Thr, NP_848666.2:p.Ser139Pro, NP_001375394.1:p.Ser139Thr, NP_001375394.1:p.Ser139Pro

Select item 145431421615.

rs1454314216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:15735658 (GRCh38)
17:15638972 (GRCh37)
Canonical SPDI:: NC_000017.11:15735657:C:G
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.15735658C>G, NC_000017.10:g.15638972C>G, NM_178571.4:c.137C>G, NR_171000.1:n.2326C>G, NM_001388465.1:c.137C>G, NP_848666.2:p.Thr46Ser, NP_001375394.1:p.Thr46Ser

Select item 144372450616.

rs1443724506 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAA>- [Show Flanks]
Chromosome:: 17:15738026 (GRCh38)
17:15641340 (GRCh37)
Canonical SPDI:: NC_000017.11:15738022:CAACAA:CAA
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_deletion,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15738023CAA[1], NC_000017.10:g.15641337CAA[1], NM_178571.4:c.225CAA[1], NR_171000.1:n.2414CAA[1], NM_001388465.1:c.225CAA[1], NP_848666.2:p.Asn76del, NP_001375394.1:p.Asn76del

Select item 144095082417.

rs1440950824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:15737521 (GRCh38)
17:15640835 (GRCh37)
Canonical SPDI:: NC_000017.11:15737520:A:G
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000017.11:g.15737521A>G, NC_000017.10:g.15640835A>G, NM_178571.4:c.196A>G, NR_171000.1:n.2385A>G, NM_001388465.1:c.196A>G, NP_848666.2:p.Lys66Glu, NP_001375394.1:p.Lys66Glu

Select item 143833928818.

rs1438339288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15738729 (GRCh38)
17:15642043 (GRCh37)
Canonical SPDI:: NC_000017.11:15738728:G:A
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000671/3 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.15738729G>A, NC_000017.10:g.15642043G>A, NM_178571.4:c.396G>A, NR_171000.1:n.2585G>A, NM_001388465.1:c.396G>A

Select item 143745326119.

rs1437453261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:15735417 (GRCh38)
17:15638731 (GRCh37)
Canonical SPDI:: NC_000017.11:15735416:T:G
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained,non_coding_transcript_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_000017.11:g.15735417T>G, NC_000017.10:g.15638731T>G, NM_178571.4:c.69T>G, NR_171000.1:n.2258T>G, NM_001388465.1:c.69T>G, NP_848666.2:p.Tyr23Ter, NP_001375394.1:p.Tyr23Ter

Select item 143714591920.

rs1437145919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15735639 (GRCh38)
17:15638953 (GRCh37)
Canonical SPDI:: NC_000017.11:15735638:G:A
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.15735639G>A, NC_000017.10:g.15638953G>A, NM_178571.4:c.118G>A, NR_171000.1:n.2307G>A, NM_001388465.1:c.118G>A, NP_848666.2:p.Val40Ile, NP_001375394.1:p.Val40Ile

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