SNP Links for Protein (Select 191252795) - SNP

Links from Protein

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Select item 14874805401.

rs1487480540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45024706 (GRCh38)
17:43102074 (GRCh37)
Canonical SPDI:: NC_000017.11:45024705:C:T
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.45024706C>T, NC_000017.10:g.43102074C>T, NM_024819.7:c.423G>A, NM_024819.6:c.423G>A, NM_024819.5:c.423G>A, NM_024819.4:c.423G>A, XM_011525262.3:c.423G>A, XM_011525262.2:c.423G>A, XM_011525262.1:c.423G>A, NM_001128631.3:c.423G>A, NM_001128631.2:c.423G>A, NM_001128631.1:c.423G>A, NM_001288655.2:c.423G>A, NM_001288655.1:c.423G>A, NM_001288654.2:c.423G>A, NM_001288654.1:c.423G>A, NM_001321326.2:c.423G>A, NM_001321326.1:c.423G>A

Select item 14869424052.

rs1486942405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45024504 (GRCh38)
17:43101872 (GRCh37)
Canonical SPDI:: NC_000017.11:45024503:C:T
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.45024504C>T, NC_000017.10:g.43101872C>T, NM_024819.7:c.625G>A, NM_024819.6:c.625G>A, NM_024819.5:c.625G>A, NM_024819.4:c.625G>A, XM_011525262.3:c.625G>A, XM_011525262.2:c.625G>A, XM_011525262.1:c.625G>A, NM_001128631.3:c.625G>A, NM_001128631.2:c.625G>A, NM_001128631.1:c.625G>A, NM_001288655.2:c.625G>A, NM_001288655.1:c.625G>A, NM_001288654.2:c.625G>A, NM_001288654.1:c.625G>A, NM_001321326.2:c.625G>A, NM_001321326.1:c.625G>A, NP_079095.3:p.Val209Ile, XP_011523564.1:p.Val209Ile, NP_001122103.1:p.Val209Ile, NP_001275584.1:p.Val209Ile, NP_001275583.1:p.Val209Ile, NP_001308255.1:p.Val209Ile

Select item 14830969793.

rs1483096979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:45024633 (GRCh38)
17:43102001 (GRCh37)
Canonical SPDI:: NC_000017.11:45024632:T:G
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.45024633T>G, NC_000017.10:g.43102001T>G, NM_024819.7:c.496A>C, NM_024819.6:c.496A>C, NM_024819.5:c.496A>C, NM_024819.4:c.496A>C, XM_011525262.3:c.496A>C, XM_011525262.2:c.496A>C, XM_011525262.1:c.496A>C, NM_001128631.3:c.496A>C, NM_001128631.2:c.496A>C, NM_001128631.1:c.496A>C, NM_001288655.2:c.496A>C, NM_001288655.1:c.496A>C, NM_001288654.2:c.496A>C, NM_001288654.1:c.496A>C, NM_001321326.2:c.496A>C, NM_001321326.1:c.496A>C, NP_079095.3:p.Thr166Pro, XP_011523564.1:p.Thr166Pro, NP_001122103.1:p.Thr166Pro, NP_001275584.1:p.Thr166Pro, NP_001275583.1:p.Thr166Pro, NP_001308255.1:p.Thr166Pro

Select item 14830931184.

rs1483093118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:45030117 (GRCh38)
17:43107485 (GRCh37)
Canonical SPDI:: NC_000017.11:45030116:T:C,NC_000017.11:45030116:T:G
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.45030117T>C, NC_000017.11:g.45030117T>G, NC_000017.10:g.43107485T>C, NC_000017.10:g.43107485T>G, NM_024819.7:c.379A>G, NM_024819.7:c.379A>C, NM_024819.6:c.379A>G, NM_024819.6:c.379A>C, NM_024819.5:c.379A>G, NM_024819.5:c.379A>C, NM_024819.4:c.379A>G, NM_024819.4:c.379A>C, XM_011525262.3:c.379A>G, XM_011525262.3:c.379A>C, XM_011525262.2:c.379A>G, XM_011525262.2:c.379A>C, XM_011525262.1:c.379A>G, XM_011525262.1:c.379A>C, NM_001128631.3:c.379A>G, NM_001128631.3:c.379A>C, NM_001128631.2:c.379A>G, NM_001128631.2:c.379A>C, NM_001128631.1:c.379A>G, NM_001128631.1:c.379A>C, NM_001288655.2:c.379A>G, NM_001288655.2:c.379A>C, NM_001288655.1:c.379A>G, NM_001288655.1:c.379A>C, NM_001288654.2:c.379A>G, NM_001288654.2:c.379A>C, NM_001288654.1:c.379A>G, NM_001288654.1:c.379A>C, NM_001321326.2:c.379A>G, NM_001321326.2:c.379A>C, NM_001321326.1:c.379A>G, NM_001321326.1:c.379A>C, XM_047436773.1:c.*88A>G, XM_047436773.1:c.*88A>C, NP_079095.3:p.Met127Val, NP_079095.3:p.Met127Leu, XP_011523564.1:p.Met127Val, XP_011523564.1:p.Met127Leu, NP_001122103.1:p.Met127Val, NP_001122103.1:p.Met127Leu, NP_001275584.1:p.Met127Val, NP_001275584.1:p.Met127Leu, NP_001275583.1:p.Met127Val, NP_001275583.1:p.Met127Leu, NP_001308255.1:p.Met127Val, NP_001308255.1:p.Met127Leu

Select item 14795168085.

rs1479516808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45034802 (GRCh38)
17:43112170 (GRCh37)
Canonical SPDI:: NC_000017.11:45034801:C:T
Gene:: DCAKD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.45034802C>T, NC_000017.10:g.43112170C>T, NM_024819.7:c.84G>A, NM_024819.6:c.84G>A, NM_024819.5:c.84G>A, NM_024819.4:c.84G>A, XM_011525262.3:c.84G>A, XM_011525262.2:c.84G>A, XM_011525262.1:c.84G>A, NM_001128631.3:c.84G>A, NM_001128631.2:c.84G>A, NM_001128631.1:c.84G>A, XM_005257688.3:c.84G>A, XM_005257688.2:c.84G>A, XM_005257688.1:c.84G>A, NM_001288655.2:c.84G>A, NM_001288655.1:c.84G>A, NM_001288654.2:c.84G>A, NM_001288654.1:c.84G>A, NM_001321326.2:c.84G>A, NM_001321326.1:c.84G>A, XM_017025103.2:c.84G>A, XM_017025103.1:c.84G>A, XM_047436773.1:c.84G>A

Select item 14749181596.

rs1474918159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:45034192 (GRCh38)
17:43111560 (GRCh37)
Canonical SPDI:: NC_000017.11:45034191:A:G
Gene:: DCAKD (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.45034192A>G, NC_000017.10:g.43111560A>G, NM_024819.7:c.311T>C, NM_024819.6:c.311T>C, NM_024819.5:c.311T>C, NM_024819.4:c.311T>C, XM_011525262.3:c.311T>C, XM_011525262.2:c.311T>C, XM_011525262.1:c.311T>C, NM_001128631.3:c.311T>C, NM_001128631.2:c.311T>C, NM_001128631.1:c.311T>C, XM_005257688.3:c.311T>C, XM_005257688.2:c.311T>C, XM_005257688.1:c.311T>C, NM_001288655.2:c.311T>C, NM_001288655.1:c.311T>C, NM_001288654.2:c.311T>C, NM_001288654.1:c.311T>C, NM_001321326.2:c.311T>C, NM_001321326.1:c.311T>C, XM_017025103.2:c.311T>C, XM_017025103.1:c.311T>C, XM_047436773.1:c.311T>C, NP_079095.3:p.Leu104Pro, XP_011523564.1:p.Leu104Pro, NP_001122103.1:p.Leu104Pro, XP_005257745.1:p.Leu104Pro, NP_001275584.1:p.Leu104Pro, NP_001275583.1:p.Leu104Pro, NP_001308255.1:p.Leu104Pro, XP_016880592.1:p.Leu104Pro, XP_047292729.1:p.Leu104Pro

Select item 14696432497.

rs1469643249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:45034376 (GRCh38)
17:43111744 (GRCh37)
Canonical SPDI:: NC_000017.11:45034375:A:T
Gene:: DCAKD (Varview)
Functional Consequence:: missense_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_000017.11:g.45034376A>T, NC_000017.10:g.43111744A>T, NM_024819.7:c.127T>A, NM_024819.6:c.127T>A, NM_024819.5:c.127T>A, NM_024819.4:c.127T>A, XM_011525262.3:c.127T>A, XM_011525262.2:c.127T>A, XM_011525262.1:c.127T>A, NM_001128631.3:c.127T>A, NM_001128631.2:c.127T>A, NM_001128631.1:c.127T>A, XM_005257688.3:c.127T>A, XM_005257688.2:c.127T>A, XM_005257688.1:c.127T>A, NM_001288655.2:c.127T>A, NM_001288655.1:c.127T>A, NM_001288654.2:c.127T>A, NM_001288654.1:c.127T>A, NM_001321326.2:c.127T>A, NM_001321326.1:c.127T>A, XM_017025103.2:c.127T>A, XM_017025103.1:c.127T>A, XM_047436773.1:c.127T>A, NP_079095.3:p.Tyr43Asn, XP_011523564.1:p.Tyr43Asn, NP_001122103.1:p.Tyr43Asn, XP_005257745.1:p.Tyr43Asn, NP_001275584.1:p.Tyr43Asn, NP_001275583.1:p.Tyr43Asn, NP_001308255.1:p.Tyr43Asn, XP_016880592.1:p.Tyr43Asn, XP_047292729.1:p.Tyr43Asn

Select item 14661991978.

rs1466199197 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45034193 (GRCh38)
17:43111561 (GRCh37)
Canonical SPDI:: NC_000017.11:45034192:G:A
Gene:: DCAKD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.45034193G>A, NC_000017.10:g.43111561G>A, NM_024819.7:c.310C>T, NM_024819.6:c.310C>T, NM_024819.5:c.310C>T, NM_024819.4:c.310C>T, XM_011525262.3:c.310C>T, XM_011525262.2:c.310C>T, XM_011525262.1:c.310C>T, NM_001128631.3:c.310C>T, NM_001128631.2:c.310C>T, NM_001128631.1:c.310C>T, XM_005257688.3:c.310C>T, XM_005257688.2:c.310C>T, XM_005257688.1:c.310C>T, NM_001288655.2:c.310C>T, NM_001288655.1:c.310C>T, NM_001288654.2:c.310C>T, NM_001288654.1:c.310C>T, NM_001321326.2:c.310C>T, NM_001321326.1:c.310C>T, XM_017025103.2:c.310C>T, XM_017025103.1:c.310C>T, XM_047436773.1:c.310C>T, NP_079095.3:p.Leu104Phe, XP_011523564.1:p.Leu104Phe, NP_001122103.1:p.Leu104Phe, XP_005257745.1:p.Leu104Phe, NP_001275584.1:p.Leu104Phe, NP_001275583.1:p.Leu104Phe, NP_001308255.1:p.Leu104Phe, XP_016880592.1:p.Leu104Phe, XP_047292729.1:p.Leu104Phe

Select item 14610765409.

rs1461076540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:45034331 (GRCh38)
17:43111699 (GRCh37)
Canonical SPDI:: NC_000017.11:45034330:A:G
Gene:: DCAKD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.45034331A>G, NC_000017.10:g.43111699A>G, NM_024819.7:c.172T>C, NM_024819.6:c.172T>C, NM_024819.5:c.172T>C, NM_024819.4:c.172T>C, XM_011525262.3:c.172T>C, XM_011525262.2:c.172T>C, XM_011525262.1:c.172T>C, NM_001128631.3:c.172T>C, NM_001128631.2:c.172T>C, NM_001128631.1:c.172T>C, XM_005257688.3:c.172T>C, XM_005257688.2:c.172T>C, XM_005257688.1:c.172T>C, NM_001288655.2:c.172T>C, NM_001288655.1:c.172T>C, NM_001288654.2:c.172T>C, NM_001288654.1:c.172T>C, NM_001321326.2:c.172T>C, NM_001321326.1:c.172T>C, XM_017025103.2:c.172T>C, XM_017025103.1:c.172T>C, XM_047436773.1:c.172T>C

Select item 145927053710.

rs1459270537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:45034230 (GRCh38)
17:43111598 (GRCh37)
Canonical SPDI:: NC_000017.11:45034229:A:C,NC_000017.11:45034229:A:G
Gene:: DCAKD (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.45034230A>C, NC_000017.11:g.45034230A>G, NC_000017.10:g.43111598A>C, NC_000017.10:g.43111598A>G, NM_024819.7:c.273T>G, NM_024819.7:c.273T>C, NM_024819.6:c.273T>G, NM_024819.6:c.273T>C, NM_024819.5:c.273T>G, NM_024819.5:c.273T>C, NM_024819.4:c.273T>G, NM_024819.4:c.273T>C, XM_011525262.3:c.273T>G, XM_011525262.3:c.273T>C, XM_011525262.2:c.273T>G, XM_011525262.2:c.273T>C, XM_011525262.1:c.273T>G, XM_011525262.1:c.273T>C, NM_001128631.3:c.273T>G, NM_001128631.3:c.273T>C, NM_001128631.2:c.273T>G, NM_001128631.2:c.273T>C, NM_001128631.1:c.273T>G, NM_001128631.1:c.273T>C, XM_005257688.3:c.273T>G, XM_005257688.3:c.273T>C, XM_005257688.2:c.273T>G, XM_005257688.2:c.273T>C, XM_005257688.1:c.273T>G, XM_005257688.1:c.273T>C, NM_001288655.2:c.273T>G, NM_001288655.2:c.273T>C, NM_001288655.1:c.273T>G, NM_001288655.1:c.273T>C, NM_001288654.2:c.273T>G, NM_001288654.2:c.273T>C, NM_001288654.1:c.273T>G, NM_001288654.1:c.273T>C, NM_001321326.2:c.273T>G, NM_001321326.2:c.273T>C, NM_001321326.1:c.273T>G, NM_001321326.1:c.273T>C, XM_017025103.2:c.273T>G, XM_017025103.2:c.273T>C, XM_017025103.1:c.273T>G, XM_017025103.1:c.273T>C, XM_047436773.1:c.273T>G, XM_047436773.1:c.273T>C, NP_079095.3:p.Ile91Met, XP_011523564.1:p.Ile91Met, NP_001122103.1:p.Ile91Met, XP_005257745.1:p.Ile91Met, NP_001275584.1:p.Ile91Met, NP_001275583.1:p.Ile91Met, NP_001308255.1:p.Ile91Met, XP_016880592.1:p.Ile91Met, XP_047292729.1:p.Ile91Met

Select item 144556529211.

rs1445565292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45024717 (GRCh38)
17:43102085 (GRCh37)
Canonical SPDI:: NC_000017.11:45024716:C:T
Gene:: DCAKD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.45024717C>T, NC_000017.10:g.43102085C>T, NM_024819.7:c.412G>A, NM_024819.6:c.412G>A, NM_024819.5:c.412G>A, NM_024819.4:c.412G>A, XM_011525262.3:c.412G>A, XM_011525262.2:c.412G>A, XM_011525262.1:c.412G>A, NM_001128631.3:c.412G>A, NM_001128631.2:c.412G>A, NM_001128631.1:c.412G>A, NM_001288655.2:c.412G>A, NM_001288655.1:c.412G>A, NM_001288654.2:c.412G>A, NM_001288654.1:c.412G>A, NM_001321326.2:c.412G>A, NM_001321326.1:c.412G>A, NP_079095.3:p.Asp138Asn, XP_011523564.1:p.Asp138Asn, NP_001122103.1:p.Asp138Asn, NP_001275584.1:p.Asp138Asn, NP_001275583.1:p.Asp138Asn, NP_001308255.1:p.Asp138Asn

Select item 143683919412.

rs1436839194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45034779 (GRCh38)
17:43112147 (GRCh37)
Canonical SPDI:: NC_000017.11:45034778:C:T
Gene:: DCAKD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.45034779C>T, NC_000017.10:g.43112147C>T, NM_024819.7:c.107G>A, NM_024819.6:c.107G>A, NM_024819.5:c.107G>A, NM_024819.4:c.107G>A, XM_011525262.3:c.107G>A, XM_011525262.2:c.107G>A, XM_011525262.1:c.107G>A, NM_001128631.3:c.107G>A, NM_001128631.2:c.107G>A, NM_001128631.1:c.107G>A, XM_005257688.3:c.107G>A, XM_005257688.2:c.107G>A, XM_005257688.1:c.107G>A, NM_001288655.2:c.107G>A, NM_001288655.1:c.107G>A, NM_001288654.2:c.107G>A, NM_001288654.1:c.107G>A, NM_001321326.2:c.107G>A, NM_001321326.1:c.107G>A, XM_017025103.2:c.107G>A, XM_017025103.1:c.107G>A, XM_047436773.1:c.107G>A, NP_079095.3:p.Arg36Gln, XP_011523564.1:p.Arg36Gln, NP_001122103.1:p.Arg36Gln, XP_005257745.1:p.Arg36Gln, NP_001275584.1:p.Arg36Gln, NP_001275583.1:p.Arg36Gln, NP_001308255.1:p.Arg36Gln, XP_016880592.1:p.Arg36Gln, XP_047292729.1:p.Arg36Gln

Select item 143541982113.

rs1435419821 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:45024715 (GRCh38)
17:43102083 (GRCh37)
Canonical SPDI:: NC_000017.11:45024709:TGTGTGT:TGTGT
Gene:: DCAKD (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000017.11:g.45024711GT[2], NC_000017.10:g.43102079GT[2], NM_024819.7:c.418_419del, NM_024819.6:c.418_419del, NM_024819.5:c.418_419del, NM_024819.4:c.418_419del, XM_011525262.3:c.418_419del, XM_011525262.2:c.418_419del, XM_011525262.1:c.418_419del, NM_001128631.3:c.418_419del, NM_001128631.2:c.418_419del, NM_001128631.1:c.418_419del, NM_001288655.2:c.418_419del, NM_001288655.1:c.418_419del, NM_001288654.2:c.418_419del, NM_001288654.1:c.418_419del, NM_001321326.2:c.418_419del, NM_001321326.1:c.418_419del, NP_079095.3:p.Gln140fs, XP_011523564.1:p.Gln140fs, NP_001122103.1:p.Gln140fs, NP_001275584.1:p.Gln140fs, NP_001275583.1:p.Gln140fs, NP_001308255.1:p.Gln140fs

Select item 142531345114.

rs1425313451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:45024516 (GRCh38)
17:43101884 (GRCh37)
Canonical SPDI:: NC_000017.11:45024515:G:A,NC_000017.11:45024515:G:C
Gene:: DCAKD (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.45024516G>A, NC_000017.11:g.45024516G>C, NC_000017.10:g.43101884G>A, NC_000017.10:g.43101884G>C, NM_024819.7:c.613C>T, NM_024819.7:c.613C>G, NM_024819.6:c.613C>T, NM_024819.6:c.613C>G, NM_024819.5:c.613C>T, NM_024819.5:c.613C>G, NM_024819.4:c.613C>T, NM_024819.4:c.613C>G, XM_011525262.3:c.613C>T, XM_011525262.3:c.613C>G, XM_011525262.2:c.613C>T, XM_011525262.2:c.613C>G, XM_011525262.1:c.613C>T, XM_011525262.1:c.613C>G, NM_001128631.3:c.613C>T, NM_001128631.3:c.613C>G, NM_001128631.2:c.613C>T, NM_001128631.2:c.613C>G, NM_001128631.1:c.613C>T, NM_001128631.1:c.613C>G, NM_001288655.2:c.613C>T, NM_001288655.2:c.613C>G, NM_001288655.1:c.613C>T, NM_001288655.1:c.613C>G, NM_001288654.2:c.613C>T, NM_001288654.2:c.613C>G, NM_001288654.1:c.613C>T, NM_001288654.1:c.613C>G, NM_001321326.2:c.613C>T, NM_001321326.2:c.613C>G, NM_001321326.1:c.613C>T, NM_001321326.1:c.613C>G, NP_079095.3:p.Leu205Val, XP_011523564.1:p.Leu205Val, NP_001122103.1:p.Leu205Val, NP_001275584.1:p.Leu205Val, NP_001275583.1:p.Leu205Val, NP_001308255.1:p.Leu205Val

Select item 142296094415.

rs1422960944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45024518 (GRCh38)
17:43101886 (GRCh37)
Canonical SPDI:: NC_000017.11:45024517:G:A
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.45024518G>A, NC_000017.10:g.43101886G>A, NM_024819.7:c.611C>T, NM_024819.6:c.611C>T, NM_024819.5:c.611C>T, NM_024819.4:c.611C>T, XM_011525262.3:c.611C>T, XM_011525262.2:c.611C>T, XM_011525262.1:c.611C>T, NM_001128631.3:c.611C>T, NM_001128631.2:c.611C>T, NM_001128631.1:c.611C>T, NM_001288655.2:c.611C>T, NM_001288655.1:c.611C>T, NM_001288654.2:c.611C>T, NM_001288654.1:c.611C>T, NM_001321326.2:c.611C>T, NM_001321326.1:c.611C>T, NP_079095.3:p.Pro204Leu, XP_011523564.1:p.Pro204Leu, NP_001122103.1:p.Pro204Leu, NP_001275584.1:p.Pro204Leu, NP_001275583.1:p.Pro204Leu, NP_001308255.1:p.Pro204Leu

Select item 141673415016.

rs1416734150 has merged into rs1290688841 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C [Show Flanks]
Chromosome:: 17:45034863 (GRCh38)
17:43112231 (GRCh37)
Canonical SPDI:: NC_000017.11:45034859:CCCCC:CCC,NC_000017.11:45034859:CCCCC:CCCC
Gene:: DCAKD (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.45034863_45034864del, NC_000017.11:g.45034864del, NC_000017.10:g.43112231_43112232del, NC_000017.10:g.43112232del, NM_024819.7:c.25_26del, NM_024819.7:c.26del, NM_024819.6:c.25_26del, NM_024819.6:c.26del, NM_024819.5:c.25_26del, NM_024819.5:c.26del, NM_024819.4:c.25_26del, NM_024819.4:c.26del, XM_011525262.3:c.25_26del, XM_011525262.3:c.26del, XM_011525262.2:c.25_26del, XM_011525262.2:c.26del, XM_011525262.1:c.25_26del, XM_011525262.1:c.26del, NM_001128631.3:c.25_26del, NM_001128631.3:c.26del, NM_001128631.2:c.25_26del, NM_001128631.2:c.26del, NM_001128631.1:c.25_26del, NM_001128631.1:c.26del, XM_005257688.3:c.25_26del, XM_005257688.3:c.26del, XM_005257688.2:c.25_26del, XM_005257688.2:c.26del, XM_005257688.1:c.25_26del, XM_005257688.1:c.26del, NM_001288655.2:c.25_26del, NM_001288655.2:c.26del, NM_001288655.1:c.25_26del, NM_001288655.1:c.26del, NM_001288654.2:c.25_26del, NM_001288654.2:c.26del, NM_001288654.1:c.25_26del, NM_001288654.1:c.26del, NM_001321326.2:c.25_26del, NM_001321326.2:c.26del, NM_001321326.1:c.25_26del, NM_001321326.1:c.26del, XM_017025103.2:c.25_26del, XM_017025103.2:c.26del, XM_017025103.1:c.25_26del, XM_017025103.1:c.26del, XM_047436773.1:c.25_26del, XM_047436773.1:c.26del, NP_079095.3:p.Gly9fs, NP_079095.3:p.Gly9fs, XP_011523564.1:p.Gly9fs, XP_011523564.1:p.Gly9fs, NP_001122103.1:p.Gly9fs, NP_001122103.1:p.Gly9fs, XP_005257745.1:p.Gly9fs, XP_005257745.1:p.Gly9fs, NP_001275584.1:p.Gly9fs, NP_001275584.1:p.Gly9fs, NP_001275583.1:p.Gly9fs, NP_001275583.1:p.Gly9fs, NP_001308255.1:p.Gly9fs, NP_001308255.1:p.Gly9fs, XP_016880592.1:p.Gly9fs, XP_016880592.1:p.Gly9fs, XP_047292729.1:p.Gly9fs, XP_047292729.1:p.Gly9fs

Select item 141643933417.

rs1416439334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45024704 (GRCh38)
17:43102072 (GRCh37)
Canonical SPDI:: NC_000017.11:45024703:G:A
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.45024704G>A, NC_000017.10:g.43102072G>A, NM_024819.7:c.425C>T, NM_024819.6:c.425C>T, NM_024819.5:c.425C>T, NM_024819.4:c.425C>T, XM_011525262.3:c.425C>T, XM_011525262.2:c.425C>T, XM_011525262.1:c.425C>T, NM_001128631.3:c.425C>T, NM_001128631.2:c.425C>T, NM_001128631.1:c.425C>T, NM_001288655.2:c.425C>T, NM_001288655.1:c.425C>T, NM_001288654.2:c.425C>T, NM_001288654.1:c.425C>T, NM_001321326.2:c.425C>T, NM_001321326.1:c.425C>T, NP_079095.3:p.Ala142Val, XP_011523564.1:p.Ala142Val, NP_001122103.1:p.Ala142Val, NP_001275584.1:p.Ala142Val, NP_001275583.1:p.Ala142Val, NP_001308255.1:p.Ala142Val

Select item 141602351818.

rs1416023518 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 17:45034213 (GRCh38)
17:43111581 (GRCh37)
Canonical SPDI:: NC_000017.11:45034211:CTTC:C
Gene:: DCAKD (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.45034213_45034215del, NC_000017.10:g.43111581_43111583del, NM_024819.7:c.289_291del, NM_024819.6:c.289_291del, NM_024819.5:c.289_291del, NM_024819.4:c.289_291del, XM_011525262.3:c.289_291del, XM_011525262.2:c.289_291del, XM_011525262.1:c.289_291del, NM_001128631.3:c.289_291del, NM_001128631.2:c.289_291del, NM_001128631.1:c.289_291del, XM_005257688.3:c.289_291del, XM_005257688.2:c.289_291del, XM_005257688.1:c.289_291del, NM_001288655.2:c.289_291del, NM_001288655.1:c.289_291del, NM_001288654.2:c.289_291del, NM_001288654.1:c.289_291del, NM_001321326.2:c.289_291del, NM_001321326.1:c.289_291del, XM_017025103.2:c.289_291del, XM_017025103.1:c.289_291del, XM_047436773.1:c.289_291del, NP_079095.3:p.Lys97del, XP_011523564.1:p.Lys97del, NP_001122103.1:p.Lys97del, XP_005257745.1:p.Lys97del, NP_001275584.1:p.Lys97del, NP_001275583.1:p.Lys97del, NP_001308255.1:p.Lys97del, XP_016880592.1:p.Lys97del, XP_047292729.1:p.Lys97del

Select item 141494690519.

rs1414946905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45024642 (GRCh38)
17:43102010 (GRCh37)
Canonical SPDI:: NC_000017.11:45024641:G:A
Gene:: DCAKD (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000033/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.45024642G>A, NC_000017.10:g.43102010G>A, NM_024819.7:c.487C>T, NM_024819.6:c.487C>T, NM_024819.5:c.487C>T, NM_024819.4:c.487C>T, XM_011525262.3:c.487C>T, XM_011525262.2:c.487C>T, XM_011525262.1:c.487C>T, NM_001128631.3:c.487C>T, NM_001128631.2:c.487C>T, NM_001128631.1:c.487C>T, NM_001288655.2:c.487C>T, NM_001288655.1:c.487C>T, NM_001288654.2:c.487C>T, NM_001288654.1:c.487C>T, NM_001321326.2:c.487C>T, NM_001321326.1:c.487C>T

Select item 141411919720.

rs1414119197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:45024507 (GRCh38)
17:43101875 (GRCh37)
Canonical SPDI:: NC_000017.11:45024506:C:A,NC_000017.11:45024506:C:T
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.45024507C>A, NC_000017.11:g.45024507C>T, NC_000017.10:g.43101875C>A, NC_000017.10:g.43101875C>T, NM_024819.7:c.622G>T, NM_024819.7:c.622G>A, NM_024819.6:c.622G>T, NM_024819.6:c.622G>A, NM_024819.5:c.622G>T, NM_024819.5:c.622G>A, NM_024819.4:c.622G>T, NM_024819.4:c.622G>A, XM_011525262.3:c.622G>T, XM_011525262.3:c.622G>A, XM_011525262.2:c.622G>T, XM_011525262.2:c.622G>A, XM_011525262.1:c.622G>T, XM_011525262.1:c.622G>A, NM_001128631.3:c.622G>T, NM_001128631.3:c.622G>A, NM_001128631.2:c.622G>T, NM_001128631.2:c.622G>A, NM_001128631.1:c.622G>T, NM_001128631.1:c.622G>A, NM_001288655.2:c.622G>T, NM_001288655.2:c.622G>A, NM_001288655.1:c.622G>T, NM_001288655.1:c.622G>A, NM_001288654.2:c.622G>T, NM_001288654.2:c.622G>A, NM_001288654.1:c.622G>T, NM_001288654.1:c.622G>A, NM_001321326.2:c.622G>T, NM_001321326.2:c.622G>A, NM_001321326.1:c.622G>T, NM_001321326.1:c.622G>A, NP_079095.3:p.Gly208Trp, NP_079095.3:p.Gly208Arg, XP_011523564.1:p.Gly208Trp, XP_011523564.1:p.Gly208Arg, NP_001122103.1:p.Gly208Trp, NP_001122103.1:p.Gly208Arg, NP_001275584.1:p.Gly208Trp, NP_001275584.1:p.Gly208Arg, NP_001275583.1:p.Gly208Trp, NP_001275583.1:p.Gly208Arg, NP_001308255.1:p.Gly208Trp, NP_001308255.1:p.Gly208Arg

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