SNP Links for Protein (Select 195927022) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:230814105 (GRCh38)
2:231678820 (GRCh37)
Canonical SPDI:: NC_000002.12:230814104:G:A
Gene:: CAB39 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_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_000002.12:g.230814105G>A, NC_000002.11:g.231678820G>A, NM_016289.4:c.684G>A, NM_016289.3:c.684G>A, NM_001130849.2:c.684G>A, NM_001130849.1:c.684G>A, NM_001130850.2:c.684G>A, NM_001130850.1:c.684G>A

Select item 143317568111.

rs1433175681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:230798781 (GRCh38)
2:231663496 (GRCh37)
Canonical SPDI:: NC_000002.12:230798780:A:G
Gene:: CAB39 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.230798781A>G, NC_000002.11:g.231663496A>G, NM_016289.4:c.451A>G, NM_016289.3:c.451A>G, NM_001130849.2:c.451A>G, NM_001130849.1:c.451A>G, NM_001130850.2:c.451A>G, NM_001130850.1:c.451A>G, XR_007076406.1:n.883A>G, XR_007076407.1:n.883A>G, NP_057373.1:p.Ile151Val, NP_001124321.1:p.Ile151Val, NP_001124322.1:p.Ile151Val

Select item 143146269012.

rs1431462690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:230818642 (GRCh38)
2:231683357 (GRCh37)
Canonical SPDI:: NC_000002.12:230818641:G:A
Gene:: CAB39 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.230818642G>A, NC_000002.11:g.231683357G>A, NM_016289.4:c.964G>A, NM_016289.3:c.964G>A, NM_001130849.2:c.964G>A, NM_001130849.1:c.964G>A, NM_001130850.2:c.964G>A, NM_001130850.1:c.964G>A, NP_057373.1:p.Glu322Lys, NP_001124321.1:p.Glu322Lys, NP_001124322.1:p.Glu322Lys

Select item 142351795613.

rs1423517956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:230798866 (GRCh38)
2:231663581 (GRCh37)
Canonical SPDI:: NC_000002.12:230798865:A:G
Gene:: CAB39 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.230798866A>G, NC_000002.11:g.231663581A>G, NM_016289.4:c.536A>G, NM_016289.3:c.536A>G, NM_001130849.2:c.536A>G, NM_001130849.1:c.536A>G, NM_001130850.2:c.536A>G, NM_001130850.1:c.536A>G, XR_007076406.1:n.968A>G, XR_007076407.1:n.968A>G, NP_057373.1:p.Asp179Gly, NP_001124321.1:p.Asp179Gly, NP_001124322.1:p.Asp179Gly

Select item 142135302714.

rs1421353027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:230760015 (GRCh38)
2:231624730 (GRCh37)
Canonical SPDI:: NC_000002.12:230760014:T:C
Gene:: CAB39 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.230760015T>C, NC_000002.11:g.231624730T>C, NM_016289.4:c.14T>C, NM_016289.3:c.14T>C, NM_001130849.2:c.14T>C, NM_001130849.1:c.14T>C, NM_001130850.2:c.14T>C, NM_001130850.1:c.14T>C, XR_007076406.1:n.446T>C, XR_007076407.1:n.446T>C, NP_057373.1:p.Phe5Ser, NP_001124321.1:p.Phe5Ser, NP_001124322.1:p.Phe5Ser

Select item 142012137315.

rs1420121373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:230798731 (GRCh38)
2:231663446 (GRCh37)
Canonical SPDI:: NC_000002.12:230798730:A:G
Gene:: CAB39 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.230798731A>G, NC_000002.11:g.231663446A>G, NM_016289.4:c.401A>G, NM_016289.3:c.401A>G, NM_001130849.2:c.401A>G, NM_001130849.1:c.401A>G, NM_001130850.2:c.401A>G, NM_001130850.1:c.401A>G, XR_007076406.1:n.833A>G, XR_007076407.1:n.833A>G, NP_057373.1:p.Tyr134Cys, NP_001124321.1:p.Tyr134Cys, NP_001124322.1:p.Tyr134Cys

Select item 141911334816.

rs1419113348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:230791020 (GRCh38)
2:231655735 (GRCh37)
Canonical SPDI:: NC_000002.12:230791019:A:T
Gene:: CAB39 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.230791020A>T, NC_000002.11:g.231655735A>T, NM_016289.4:c.263A>T, NM_016289.3:c.263A>T, NM_001130849.2:c.263A>T, NM_001130849.1:c.263A>T, NM_001130850.2:c.263A>T, NM_001130850.1:c.263A>T, XR_007076406.1:n.695A>T, XR_007076407.1:n.695A>T, NP_057373.1:p.Gln88Leu, NP_001124321.1:p.Gln88Leu, NP_001124322.1:p.Gln88Leu

Select item 141810318417.

rs1418103184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:230793224 (GRCh38)
2:231657939 (GRCh37)
Canonical SPDI:: NC_000002.12:230793223:C:T
Gene:: CAB39 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.230793224C>T, NC_000002.11:g.231657939C>T, NG_082868.1:g.49C>T, NM_016289.4:c.291C>T, NM_016289.3:c.291C>T, NM_001130849.2:c.291C>T, NM_001130849.1:c.291C>T, NM_001130850.2:c.291C>T, NM_001130850.1:c.291C>T, XR_007076406.1:n.723C>T, XR_007076407.1:n.723C>T

Select item 141336330318.

rs1413363303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:230798729 (GRCh38)
2:231663444 (GRCh37)
Canonical SPDI:: NC_000002.12:230798728:G:T
Gene:: CAB39 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.230798729G>T, NC_000002.11:g.231663444G>T, NM_016289.4:c.399G>T, NM_016289.3:c.399G>T, NM_001130849.2:c.399G>T, NM_001130849.1:c.399G>T, NM_001130850.2:c.399G>T, NM_001130850.1:c.399G>T, XR_007076406.1:n.831G>T, XR_007076407.1:n.831G>T

Select item 140923747119.

rs1409237471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:230793220 (GRCh38)
2:231657935 (GRCh37)
Canonical SPDI:: NC_000002.12:230793219:A:G
Gene:: CAB39 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.230793220A>G, NC_000002.11:g.231657935A>G, NG_082868.1:g.45A>G, NM_016289.4:c.287A>G, NM_016289.3:c.287A>G, NM_001130849.2:c.287A>G, NM_001130849.1:c.287A>G, NM_001130850.2:c.287A>G, NM_001130850.1:c.287A>G, XR_007076406.1:n.719A>G, XR_007076407.1:n.719A>G, NP_057373.1:p.Lys96Arg, NP_001124321.1:p.Lys96Arg, NP_001124322.1:p.Lys96Arg

Select item 140208946420.

rs1402089464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:230798774 (GRCh38)
2:231663489 (GRCh37)
Canonical SPDI:: NC_000002.12:230798773:A:G
Gene:: CAB39 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000002.12:g.230798774A>G, NC_000002.11:g.231663489A>G, NM_016289.4:c.444A>G, NM_016289.3:c.444A>G, NM_001130849.2:c.444A>G, NM_001130849.1:c.444A>G, NM_001130850.2:c.444A>G, NM_001130850.1:c.444A>G, XR_007076406.1:n.876A>G, XR_007076407.1:n.876A>G

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