SNP Links for Protein (Select 767919095) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 482

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Select item 14860572321.

rs1486057232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:218400666 (GRCh38)
2:219265389 (GRCh37)
Canonical SPDI:: NC_000002.12:218400665:C:A,NC_000002.12:218400665:C:G,NC_000002.12:218400665:C:T
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218400666C>A, NC_000002.12:g.218400666C>G, NC_000002.12:g.218400666C>T, NC_000002.11:g.219265389C>A, NC_000002.11:g.219265389C>G, NC_000002.11:g.219265389C>T, NG_030418.1:g.7329C>A, NG_030418.1:g.7329C>G, NG_030418.1:g.7329C>T, XM_011511569.3:c.179C>A, XM_011511569.3:c.179C>G, XM_011511569.3:c.179C>T, XM_011511569.2:c.179C>A, XM_011511569.2:c.179C>G, XM_011511569.2:c.179C>T, XM_011511569.1:c.179C>A, XM_011511569.1:c.179C>G, XM_011511569.1:c.179C>T, XM_011511570.2:c.179C>A, XM_011511570.2:c.179C>G, XM_011511570.2:c.179C>T, XM_011511570.1:c.179C>A, XM_011511570.1:c.179C>G, XM_011511570.1:c.179C>T, XP_011509871.1:p.Ser60Ter, XP_011509871.1:p.Ser60Trp, XP_011509871.1:p.Ser60Leu, XP_011509872.1:p.Ser60Ter, XP_011509872.1:p.Ser60Trp, XP_011509872.1:p.Ser60Leu

Select item 14858963382.

rs1485896338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:218400576 (GRCh38)
2:219265299 (GRCh37)
Canonical SPDI:: NC_000002.12:218400575:G:C,NC_000002.12:218400575:G:T
Gene:: CTDSP1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218400576G>C, NC_000002.12:g.218400576G>T, NC_000002.11:g.219265299G>C, NC_000002.11:g.219265299G>T, NG_030418.1:g.7239G>C, NG_030418.1:g.7239G>T, XM_011511569.3:c.89G>C, XM_011511569.3:c.89G>T, XM_011511569.2:c.89G>C, XM_011511569.2:c.89G>T, XM_011511569.1:c.89G>C, XM_011511569.1:c.89G>T, XM_011511570.2:c.89G>C, XM_011511570.2:c.89G>T, XM_011511570.1:c.89G>C, XM_011511570.1:c.89G>T, XP_011509871.1:p.Arg30Thr, XP_011509871.1:p.Arg30Met, XP_011509872.1:p.Arg30Thr, XP_011509872.1:p.Arg30Met

Select item 14853406343.

rs1485340634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218403059 (GRCh38)
2:219267782 (GRCh37)
Canonical SPDI:: NC_000002.12:218403058:G:A
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218403059G>A, NC_000002.11:g.219267782G>A, NG_030418.1:g.9722G>A, NM_021198.3:c.403G>A, NM_021198.2:c.403G>A, NM_182642.3:c.400G>A, NM_182642.2:c.400G>A, NM_001206878.2:c.400G>A, NM_001206878.1:c.400G>A, NM_001400268.1:c.400G>A, NR_174469.1:n.811G>A, NR_174464.1:n.756G>A, NR_174465.1:n.724G>A, NR_174461.1:n.721G>A, NM_001400271.1:c.427G>A, NR_174468.1:n.623G>A, NR_174467.1:n.615G>A, NM_001400272.1:c.403G>A, NM_001400274.1:c.346G>A, NM_001400275.1:c.343G>A, NM_001400276.1:c.298G>A, NR_174456.1:n.500G>A, NR_174457.1:n.497G>A, NR_174462.1:n.493G>A, NR_174463.1:n.490G>A, NR_174458.1:n.474G>A, NR_174466.1:n.462G>A, NM_001400273.1:c.352G>A, NR_174459.1:n.436G>A, NR_174460.1:n.433G>A, NM_001400269.1:c.403G>A, NM_001400270.1:c.400G>A, XM_011511569.3:c.802G>A, XM_011511569.2:c.802G>A, XM_011511569.1:c.802G>A, XM_011511570.2:c.799G>A, XM_011511570.1:c.799G>A, NM_001206879.1:c.-21G>A, NP_067021.1:p.Val135Met, NP_872580.1:p.Val134Met, NP_001193807.1:p.Val134Met, NP_001387197.1:p.Val134Met, NP_001387200.1:p.Val143Met, NP_001387201.1:p.Val135Met, NP_001387203.1:p.Val116Met, NP_001387204.1:p.Val115Met, NP_001387205.1:p.Val100Met, NP_001387202.1:p.Val118Met, NP_001387198.1:p.Val135Met, NP_001387199.1:p.Val134Met, XP_011509871.1:p.Val268Met, XP_011509872.1:p.Val267Met

Select item 14840649244.

rs1484064924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:218400716 (GRCh38)
2:219265439 (GRCh37)
Canonical SPDI:: NC_000002.12:218400715:C:A,NC_000002.12:218400715:C:T
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.218400716C>A, NC_000002.12:g.218400716C>T, NC_000002.11:g.219265439C>A, NC_000002.11:g.219265439C>T, NG_030418.1:g.7379C>A, NG_030418.1:g.7379C>T, XM_011511569.3:c.229C>A, XM_011511569.3:c.229C>T, XM_011511569.2:c.229C>A, XM_011511569.2:c.229C>T, XM_011511569.1:c.229C>A, XM_011511569.1:c.229C>T, XM_011511570.2:c.229C>A, XM_011511570.2:c.229C>T, XM_011511570.1:c.229C>A, XM_011511570.1:c.229C>T, XP_011509871.1:p.Arg77Trp, XP_011509872.1:p.Arg77Trp

Select item 14833361475.

rs1483336147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218401587 (GRCh38)
2:219266310 (GRCh37)
Canonical SPDI:: NC_000002.12:218401586:C:T
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.218401587C>T, NC_000002.11:g.219266310C>T, NG_030418.1:g.8250C>T, NM_021198.3:c.91C>T, NM_021198.2:c.91C>T, NM_182642.3:c.91C>T, NM_182642.2:c.91C>T, NM_001206878.2:c.91C>T, NM_001206878.1:c.91C>T, NM_001400268.1:c.91C>T, NR_174469.1:n.314C>T, NR_174464.1:n.447C>T, NR_174465.1:n.412C>T, NR_174461.1:n.412C>T, NM_001400271.1:c.91C>T, NR_174468.1:n.314C>T, NR_174467.1:n.306C>T, NM_001400272.1:c.91C>T, NM_001400274.1:c.91C>T, NM_001400275.1:c.91C>T, NM_001400276.1:c.91C>T, NR_174456.1:n.188C>T, NR_174457.1:n.188C>T, NR_174462.1:n.181C>T, NR_174463.1:n.181C>T, NR_174458.1:n.165C>T, NR_174466.1:n.153C>T, NM_001400273.1:c.40C>T, NR_174459.1:n.124C>T, NR_174460.1:n.124C>T, NM_001400269.1:c.91C>T, NM_001400270.1:c.91C>T, XM_011511569.3:c.490C>T, XM_011511569.2:c.490C>T, XM_011511569.1:c.490C>T, XM_011511570.2:c.490C>T, XM_011511570.1:c.490C>T, NM_001206879.1:c.-330C>T, NP_067021.1:p.Gln31Ter, NP_872580.1:p.Gln31Ter, NP_001193807.1:p.Gln31Ter, NP_001387197.1:p.Gln31Ter, NP_001387200.1:p.Gln31Ter, NP_001387201.1:p.Gln31Ter, NP_001387203.1:p.Gln31Ter, NP_001387204.1:p.Gln31Ter, NP_001387205.1:p.Gln31Ter, NP_001387202.1:p.Gln14Ter, NP_001387198.1:p.Gln31Ter, NP_001387199.1:p.Gln31Ter, XP_011509871.1:p.Gln164Ter, XP_011509872.1:p.Gln164Ter

Select item 14818054656.

rs1481805465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:218400776 (GRCh38)
2:219265499 (GRCh37)
Canonical SPDI:: NC_000002.12:218400775:C:A,NC_000002.12:218400775:C:T
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218400776C>A, NC_000002.12:g.218400776C>T, NC_000002.11:g.219265499C>A, NC_000002.11:g.219265499C>T, NG_030418.1:g.7439C>A, NG_030418.1:g.7439C>T, XM_011511569.3:c.289C>A, XM_011511569.3:c.289C>T, XM_011511569.2:c.289C>A, XM_011511569.2:c.289C>T, XM_011511569.1:c.289C>A, XM_011511569.1:c.289C>T, XM_011511570.2:c.289C>A, XM_011511570.2:c.289C>T, XM_011511570.1:c.289C>A, XM_011511570.1:c.289C>T, XP_011509871.1:p.Pro97Thr, XP_011509871.1:p.Pro97Ser, XP_011509872.1:p.Pro97Thr, XP_011509872.1:p.Pro97Ser

Select item 14763658697.

rs1476365869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218403235 (GRCh38)
2:219267958 (GRCh37)
Canonical SPDI:: NC_000002.12:218403234:G:A
Gene:: CTDSP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_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.218403235G>A, NC_000002.11:g.219267958G>A, NG_030418.1:g.9898G>A, NM_021198.3:c.475G>A, NM_021198.2:c.475G>A, NM_182642.3:c.472G>A, NM_182642.2:c.472G>A, NM_001206878.2:c.472G>A, NM_001206878.1:c.472G>A, NM_001400268.1:c.472G>A, NR_174469.1:n.883G>A, NR_174464.1:n.828G>A, NR_174465.1:n.796G>A, NR_174461.1:n.793G>A, NM_001400271.1:c.499G>A, NR_174467.1:n.687G>A, NM_001400272.1:c.475G>A, NM_001400274.1:c.418G>A, NM_001400275.1:c.415G>A, NM_001400276.1:c.370G>A, NR_174456.1:n.572G>A, NR_174457.1:n.569G>A, NR_174462.1:n.565G>A, NR_174463.1:n.562G>A, NR_174458.1:n.546G>A, NR_174466.1:n.534G>A, NM_001400273.1:c.424G>A, NR_174459.1:n.508G>A, NR_174460.1:n.505G>A, NM_001400269.1:c.475G>A, NM_001400270.1:c.472G>A, XM_011511569.3:c.874G>A, XM_011511569.2:c.874G>A, XM_011511569.1:c.874G>A, XM_011511570.2:c.871G>A, XM_011511570.1:c.871G>A, NM_001206879.1:c.52G>A, NP_067021.1:p.Ala159Thr, NP_872580.1:p.Ala158Thr, NP_001193807.1:p.Ala158Thr, NP_001387197.1:p.Ala158Thr, NP_001387200.1:p.Ala167Thr, NP_001387201.1:p.Ala159Thr, NP_001387203.1:p.Ala140Thr, NP_001387204.1:p.Ala139Thr, NP_001387205.1:p.Ala124Thr, NP_001387202.1:p.Ala142Thr, NP_001387198.1:p.Ala159Thr, NP_001387199.1:p.Ala158Thr, XP_011509871.1:p.Ala292Thr, XP_011509872.1:p.Ala291Thr

Select item 14729629638.

rs1472962963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218403067 (GRCh38)
2:219267790 (GRCh37)
Canonical SPDI:: NC_000002.12:218403066:G:A
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000045/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218403067G>A, NC_000002.11:g.219267790G>A, NG_030418.1:g.9730G>A, NM_021198.3:c.411G>A, NM_021198.2:c.411G>A, NM_182642.3:c.408G>A, NM_182642.2:c.408G>A, NM_001206878.2:c.408G>A, NM_001206878.1:c.408G>A, NM_001400268.1:c.408G>A, NR_174469.1:n.819G>A, NR_174464.1:n.764G>A, NR_174465.1:n.732G>A, NR_174461.1:n.729G>A, NM_001400271.1:c.435G>A, NR_174468.1:n.631G>A, NR_174467.1:n.623G>A, NM_001400272.1:c.411G>A, NM_001400274.1:c.354G>A, NM_001400275.1:c.351G>A, NM_001400276.1:c.306G>A, NR_174456.1:n.508G>A, NR_174457.1:n.505G>A, NR_174462.1:n.501G>A, NR_174463.1:n.498G>A, NR_174458.1:n.482G>A, NR_174466.1:n.470G>A, NM_001400273.1:c.360G>A, NR_174459.1:n.444G>A, NR_174460.1:n.441G>A, NM_001400269.1:c.411G>A, NM_001400270.1:c.408G>A, XM_011511569.3:c.810G>A, XM_011511569.2:c.810G>A, XM_011511569.1:c.810G>A, XM_011511570.2:c.807G>A, XM_011511570.1:c.807G>A, NM_001206879.1:c.-13G>A

Select item 14722212269.

rs1472221226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:218400846 (GRCh38)
2:219265569 (GRCh37)
Canonical SPDI:: NC_000002.12:218400845:C:G,NC_000002.12:218400845:C:T
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00007/2 (TOMMO)
HGVS:: NC_000002.12:g.218400846C>G, NC_000002.12:g.218400846C>T, NC_000002.11:g.219265569C>G, NC_000002.11:g.219265569C>T, NG_030418.1:g.7509C>G, NG_030418.1:g.7509C>T, XM_011511569.3:c.359C>G, XM_011511569.3:c.359C>T, XM_011511569.2:c.359C>G, XM_011511569.2:c.359C>T, XM_011511569.1:c.359C>G, XM_011511569.1:c.359C>T, XM_011511570.2:c.359C>G, XM_011511570.2:c.359C>T, XM_011511570.1:c.359C>G, XM_011511570.1:c.359C>T, XP_011509871.1:p.Ser120Cys, XP_011509871.1:p.Ser120Phe, XP_011509872.1:p.Ser120Cys, XP_011509872.1:p.Ser120Phe

Select item 147214013810.

rs1472140138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:218400573 (GRCh38)
2:219265296 (GRCh37)
Canonical SPDI:: NC_000002.12:218400572:G:T
Gene:: CTDSP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218400573G>T, NC_000002.11:g.219265296G>T, NG_030418.1:g.7236G>T, XM_011511569.3:c.86G>T, XM_011511569.2:c.86G>T, XM_011511569.1:c.86G>T, XM_011511570.2:c.86G>T, XM_011511570.1:c.86G>T, XP_011509871.1:p.Gly29Val, XP_011509872.1:p.Gly29Val

Select item 147185608511.

rs1471856085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:218400907 (GRCh38)
2:219265630 (GRCh37)
Canonical SPDI:: NC_000002.12:218400906:C:A,NC_000002.12:218400906:C:T
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00007/1 (TOMMO)
HGVS:: NC_000002.12:g.218400907C>A, NC_000002.12:g.218400907C>T, NC_000002.11:g.219265630C>A, NC_000002.11:g.219265630C>T, NG_030418.1:g.7570C>A, NG_030418.1:g.7570C>T, XM_011511569.3:c.420C>A, XM_011511569.3:c.420C>T, XM_011511569.2:c.420C>A, XM_011511569.2:c.420C>T, XM_011511569.1:c.420C>A, XM_011511569.1:c.420C>T, XM_011511570.2:c.420C>A, XM_011511570.2:c.420C>T, XM_011511570.1:c.420C>A, XM_011511570.1:c.420C>T, XP_011509871.1:p.His140Gln, XP_011509872.1:p.His140Gln

Select item 147131214412.

rs1471312144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218400730 (GRCh38)
2:219265453 (GRCh37)
Canonical SPDI:: NC_000002.12:218400729:G:A
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000022/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218400730G>A, NC_000002.11:g.219265453G>A, NG_030418.1:g.7393G>A, XM_011511569.3:c.243G>A, XM_011511569.2:c.243G>A, XM_011511569.1:c.243G>A, XM_011511570.2:c.243G>A, XM_011511570.1:c.243G>A

Select item 146875972513.

rs1468759725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218404416 (GRCh38)
2:219269139 (GRCh37)
Canonical SPDI:: NC_000002.12:218404415:A:G
Gene:: CTDSP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000685/2 (KOREAN)
HGVS:: NC_000002.12:g.218404416A>G, NC_000002.11:g.219269139A>G, NG_030418.1:g.11079A>G, NM_021198.3:c.777A>G, NM_021198.2:c.777A>G, NM_182642.3:c.774A>G, NM_182642.2:c.774A>G, NM_001206878.2:c.774A>G, NM_001206878.1:c.774A>G, NM_001400268.1:c.774A>G, NR_174469.1:n.1185A>G, NR_174464.1:n.1130A>G, NR_174465.1:n.1098A>G, NR_174461.1:n.1095A>G, NM_001400271.1:c.801A>G, NR_174468.1:n.990A>G, NR_174467.1:n.989A>G, NM_001400272.1:c.777A>G, NM_001400274.1:c.720A>G, NM_001400275.1:c.717A>G, NM_001400276.1:c.672A>G, NR_174456.1:n.874A>G, NR_174457.1:n.871A>G, NR_174462.1:n.867A>G, NR_174463.1:n.864A>G, NR_174458.1:n.848A>G, NR_174466.1:n.836A>G, NM_001400273.1:c.726A>G, NR_174459.1:n.810A>G, NR_174460.1:n.807A>G, XM_011511569.3:c.1176A>G, XM_011511569.2:c.1176A>G, XM_011511569.1:c.1176A>G, XM_011511570.2:c.1173A>G, XM_011511570.1:c.1173A>G, NM_001206879.1:c.354A>G

Select item 146678031814.

rs1466780318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218400751 (GRCh38)
2:219265474 (GRCh37)
Canonical SPDI:: NC_000002.12:218400750:G:A
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218400751G>A, NC_000002.11:g.219265474G>A, NG_030418.1:g.7414G>A, XM_011511569.3:c.264G>A, XM_011511569.2:c.264G>A, XM_011511569.1:c.264G>A, XM_011511570.2:c.264G>A, XM_011511570.1:c.264G>A

Select item 146675283415.

rs1466752834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:218401711 (GRCh38)
2:219266434 (GRCh37)
Canonical SPDI:: NC_000002.12:218401710:A:G
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,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_000002.12:g.218401711A>G, NC_000002.11:g.219266434A>G, NG_030418.1:g.8374A>G, NM_021198.3:c.215A>G, NM_021198.2:c.215A>G, NM_182642.3:c.215A>G, NM_182642.2:c.215A>G, NM_001206878.2:c.215A>G, NM_001206878.1:c.215A>G, NM_001400268.1:c.215A>G, NR_174469.1:n.438A>G, NR_174464.1:n.571A>G, NR_174465.1:n.536A>G, NR_174461.1:n.536A>G, NM_001400271.1:c.215A>G, NR_174468.1:n.438A>G, NR_174467.1:n.430A>G, NM_001400272.1:c.215A>G, NM_001400274.1:c.215A>G, NM_001400275.1:c.215A>G, NM_001400276.1:c.215A>G, NR_174456.1:n.312A>G, NR_174457.1:n.312A>G, NR_174462.1:n.305A>G, NR_174463.1:n.305A>G, NR_174458.1:n.289A>G, NR_174466.1:n.277A>G, NM_001400273.1:c.164A>G, NR_174459.1:n.248A>G, NR_174460.1:n.248A>G, NM_001400269.1:c.215A>G, NM_001400270.1:c.215A>G, XM_011511569.3:c.614A>G, XM_011511569.2:c.614A>G, XM_011511569.1:c.614A>G, XM_011511570.2:c.614A>G, XM_011511570.1:c.614A>G, NM_001206879.1:c.-206A>G, NP_067021.1:p.Lys72Arg, NP_872580.1:p.Lys72Arg, NP_001193807.1:p.Lys72Arg, NP_001387197.1:p.Lys72Arg, NP_001387200.1:p.Lys72Arg, NP_001387201.1:p.Lys72Arg, NP_001387203.1:p.Lys72Arg, NP_001387204.1:p.Lys72Arg, NP_001387205.1:p.Lys72Arg, NP_001387202.1:p.Lys55Arg, NP_001387198.1:p.Lys72Arg, NP_001387199.1:p.Lys72Arg, XP_011509871.1:p.Lys205Arg, XP_011509872.1:p.Lys205Arg

Select item 146642554216.

rs1466425542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:218400918 (GRCh38)
2:219265641 (GRCh37)
Canonical SPDI:: NC_000002.12:218400917:G:A,NC_000002.12:218400917:G:T
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000319/5 (TOMMO)
A=0.000345/1 (KOREAN)
HGVS:: NC_000002.12:g.218400918G>A, NC_000002.12:g.218400918G>T, NC_000002.11:g.219265641G>A, NC_000002.11:g.219265641G>T, NG_030418.1:g.7581G>A, NG_030418.1:g.7581G>T, XM_011511569.3:c.431G>A, XM_011511569.3:c.431G>T, XM_011511569.2:c.431G>A, XM_011511569.2:c.431G>T, XM_011511569.1:c.431G>A, XM_011511569.1:c.431G>T, XM_011511570.2:c.431G>A, XM_011511570.2:c.431G>T, XM_011511570.1:c.431G>A, XM_011511570.1:c.431G>T, XP_011509871.1:p.Gly144Asp, XP_011509871.1:p.Gly144Val, XP_011509872.1:p.Gly144Asp, XP_011509872.1:p.Gly144Val

Select item 146576957017.

rs1465769570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218401694 (GRCh38)
2:219266417 (GRCh37)
Canonical SPDI:: NC_000002.12:218401693:G:A
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218401694G>A, NC_000002.11:g.219266417G>A, NG_030418.1:g.8357G>A, NM_021198.3:c.198G>A, NM_021198.2:c.198G>A, NM_182642.3:c.198G>A, NM_182642.2:c.198G>A, NM_001206878.2:c.198G>A, NM_001206878.1:c.198G>A, NM_001400268.1:c.198G>A, NR_174469.1:n.421G>A, NR_174464.1:n.554G>A, NR_174465.1:n.519G>A, NR_174461.1:n.519G>A, NM_001400271.1:c.198G>A, NR_174468.1:n.421G>A, NR_174467.1:n.413G>A, NM_001400272.1:c.198G>A, NM_001400274.1:c.198G>A, NM_001400275.1:c.198G>A, NM_001400276.1:c.198G>A, NR_174456.1:n.295G>A, NR_174457.1:n.295G>A, NR_174462.1:n.288G>A, NR_174463.1:n.288G>A, NR_174458.1:n.272G>A, NR_174466.1:n.260G>A, NM_001400273.1:c.147G>A, NR_174459.1:n.231G>A, NR_174460.1:n.231G>A, NM_001400269.1:c.198G>A, NM_001400270.1:c.198G>A, XM_011511569.3:c.597G>A, XM_011511569.2:c.597G>A, XM_011511569.1:c.597G>A, XM_011511570.2:c.597G>A, XM_011511570.1:c.597G>A, NM_001206879.1:c.-223G>A

Select item 146425789618.

rs1464257896 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:218401629 (GRCh38)
2:219266352 (GRCh37)
Canonical SPDI:: NC_000002.12:218401628:T:A
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.218401629T>A, NC_000002.11:g.219266352T>A, NG_030418.1:g.8292T>A, NM_021198.3:c.133T>A, NM_021198.2:c.133T>A, NM_182642.3:c.133T>A, NM_182642.2:c.133T>A, NM_001206878.2:c.133T>A, NM_001206878.1:c.133T>A, NM_001400268.1:c.133T>A, NR_174469.1:n.356T>A, NR_174464.1:n.489T>A, NR_174465.1:n.454T>A, NR_174461.1:n.454T>A, NM_001400271.1:c.133T>A, NR_174468.1:n.356T>A, NR_174467.1:n.348T>A, NM_001400272.1:c.133T>A, NM_001400274.1:c.133T>A, NM_001400275.1:c.133T>A, NM_001400276.1:c.133T>A, NR_174456.1:n.230T>A, NR_174457.1:n.230T>A, NR_174462.1:n.223T>A, NR_174463.1:n.223T>A, NR_174458.1:n.207T>A, NR_174466.1:n.195T>A, NM_001400273.1:c.82T>A, NR_174459.1:n.166T>A, NR_174460.1:n.166T>A, NM_001400269.1:c.133T>A, NM_001400270.1:c.133T>A, XM_011511569.3:c.532T>A, XM_011511569.2:c.532T>A, XM_011511569.1:c.532T>A, XM_011511570.2:c.532T>A, XM_011511570.1:c.532T>A, NM_001206879.1:c.-288T>A, NP_067021.1:p.Cys45Ser, NP_872580.1:p.Cys45Ser, NP_001193807.1:p.Cys45Ser, NP_001387197.1:p.Cys45Ser, NP_001387200.1:p.Cys45Ser, NP_001387201.1:p.Cys45Ser, NP_001387203.1:p.Cys45Ser, NP_001387204.1:p.Cys45Ser, NP_001387205.1:p.Cys45Ser, NP_001387202.1:p.Cys28Ser, NP_001387198.1:p.Cys45Ser, NP_001387199.1:p.Cys45Ser, XP_011509871.1:p.Cys178Ser, XP_011509872.1:p.Cys178Ser

Select item 146382438119.

rs1463824381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:218404307 (GRCh38)
2:219269030 (GRCh37)
Canonical SPDI:: NC_000002.12:218404306:C:A
Gene:: CTDSP1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218404307C>A, NC_000002.11:g.219269030C>A, NG_030418.1:g.10970C>A, NM_021198.3:c.668C>A, NM_021198.2:c.668C>A, NM_182642.3:c.665C>A, NM_182642.2:c.665C>A, NM_001206878.2:c.665C>A, NM_001206878.1:c.665C>A, NM_001400268.1:c.665C>A, NR_174469.1:n.1076C>A, NR_174464.1:n.1021C>A, NR_174465.1:n.989C>A, NR_174461.1:n.986C>A, NM_001400271.1:c.692C>A, NR_174468.1:n.881C>A, NR_174467.1:n.880C>A, NM_001400272.1:c.668C>A, NM_001400274.1:c.611C>A, NM_001400275.1:c.608C>A, NM_001400276.1:c.563C>A, NR_174456.1:n.765C>A, NR_174457.1:n.762C>A, NR_174462.1:n.758C>A, NR_174463.1:n.755C>A, NR_174458.1:n.739C>A, NR_174466.1:n.727C>A, NM_001400273.1:c.617C>A, NR_174459.1:n.701C>A, NR_174460.1:n.698C>A, XM_011511569.3:c.1067C>A, XM_011511569.2:c.1067C>A, XM_011511569.1:c.1067C>A, XM_011511570.2:c.1064C>A, XM_011511570.1:c.1064C>A, NM_001206879.1:c.245C>A, NP_067021.1:p.Ala223Asp, NP_872580.1:p.Ala222Asp, NP_001193807.1:p.Ala222Asp, NP_001387197.1:p.Ala222Asp, NP_001387200.1:p.Ala231Asp, NP_001387201.1:p.Ala223Asp, NP_001387203.1:p.Ala204Asp, NP_001387204.1:p.Ala203Asp, NP_001387205.1:p.Ala188Asp, NP_001387202.1:p.Ala206Asp, XP_011509871.1:p.Ala356Asp, XP_011509872.1:p.Ala355Asp

Select item 146280569520.

rs1462805695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:218400865 (GRCh38)
2:219265588 (GRCh37)
Canonical SPDI:: NC_000002.12:218400864:G:A,NC_000002.12:218400864:G:T
Gene:: CTDSP1 (Varview), MIR26B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.218400865G>A, NC_000002.12:g.218400865G>T, NC_000002.11:g.219265588G>A, NC_000002.11:g.219265588G>T, NG_030418.1:g.7528G>A, NG_030418.1:g.7528G>T, XM_011511569.3:c.378G>A, XM_011511569.3:c.378G>T, XM_011511569.2:c.378G>A, XM_011511569.2:c.378G>T, XM_011511569.1:c.378G>A, XM_011511569.1:c.378G>T, XM_011511570.2:c.378G>A, XM_011511570.2:c.378G>T, XM_011511570.1:c.378G>A, XM_011511570.1:c.378G>T

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