SNP Links for Protein (Select 578816068) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 198

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Select item 14859004001.

rs1485900400 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:123429990 (GRCh38)
8:124442230 (GRCh37)
Canonical SPDI:: NC_000008.11:123429989:T:C
Gene:: NTAQ1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.123429990T>C, NC_000008.10:g.124442230T>C, XR_928337.4:n.267T>C, XR_928337.3:n.316T>C, XR_928337.2:n.316T>C, XR_928337.1:n.316T>C, XM_006716597.4:c.191T>C, XM_006716597.3:c.191T>C, XM_006716597.2:c.191T>C, XM_006716597.1:c.191T>C, NM_018024.3:c.191T>C, NM_018024.2:c.191T>C, NM_018024.1:c.191T>C, XR_002956636.2:n.240T>C, XR_002956636.1:n.264T>C, XR_002956635.2:n.240T>C, XR_002956635.1:n.264T>C, NR_133926.2:n.191T>C, NR_133926.1:n.240T>C, XR_007060738.1:n.267T>C, XR_007060742.1:n.240T>C, XR_007060736.1:n.267T>C, XR_007060739.1:n.267T>C, XR_007060741.1:n.240T>C, NM_001283027.1:c.-115T>C, NM_001283024.1:c.11T>C, XR_007060740.1:n.267T>C, XR_007060737.1:n.267T>C, XM_047421923.1:c.11T>C, XP_006716660.1:p.Ile64Thr, NP_060494.1:p.Ile64Thr, NP_001269953.1:p.Ile4Thr, XP_047277879.1:p.Ile4Thr

Select item 14844325922.

rs1484432592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:123438159 (GRCh38)
8:124450399 (GRCh37)
Canonical SPDI:: NC_000008.11:123438158:G:A
Gene:: NTAQ1 (Varview)
Functional Consequence:: synonymous_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)
HGVS:: NC_000008.11:g.123438159G>A, NC_000008.10:g.124450399G>A, XM_006716597.4:c.534G>A, XM_006716597.3:c.534G>A, XM_006716597.2:c.534G>A, XM_006716597.1:c.534G>A, XM_047421923.1:c.354G>A

Select item 14835195953.

rs1483519595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:123438179 (GRCh38)
8:124450419 (GRCh37)
Canonical SPDI:: NC_000008.11:123438178:G:T
Gene:: NTAQ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.123438179G>T, NC_000008.10:g.124450419G>T, XM_006716597.4:c.554G>T, XM_006716597.3:c.554G>T, XM_006716597.2:c.554G>T, XM_006716597.1:c.554G>T, XM_047421923.1:c.374G>T, XP_006716660.1:p.Gly185Val, XP_047277879.1:p.Gly125Val

Select item 14815276154.

rs1481527615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:123436514 (GRCh38)
8:124448754 (GRCh37)
Canonical SPDI:: NC_000008.11:123436513:A:T
Gene:: NTAQ1 (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 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.123436514A>T, NC_000008.10:g.124448754A>T, XR_928337.4:n.372A>T, XR_928337.3:n.421A>T, XR_928337.2:n.421A>T, XR_928337.1:n.421A>T, XM_006716597.4:c.296A>T, XM_006716597.3:c.296A>T, XM_006716597.2:c.296A>T, XM_006716597.1:c.296A>T, NM_018024.3:c.296A>T, NM_018024.2:c.296A>T, NM_018024.1:c.296A>T, XR_002956636.2:n.345A>T, XR_002956636.1:n.369A>T, XR_002956635.2:n.345A>T, XR_002956635.1:n.369A>T, NR_133926.2:n.296A>T, NR_133926.1:n.345A>T, XR_007060738.1:n.372A>T, XR_007060742.1:n.345A>T, XR_007060736.1:n.372A>T, XR_007060739.1:n.372A>T, XR_007060741.1:n.345A>T, NM_001283027.1:c.92A>T, NM_001283024.1:c.116A>T, XR_007060740.1:n.372A>T, XR_007060737.1:n.372A>T, XM_047421923.1:c.116A>T, XP_006716660.1:p.Asp99Val, NP_060494.1:p.Asp99Val, NP_001269956.1:p.Asp31Val, NP_001269953.1:p.Asp39Val, XP_047277879.1:p.Asp39Val

Select item 14778321325.

rs1477832132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:123429998 (GRCh38)
8:124442238 (GRCh37)
Canonical SPDI:: NC_000008.11:123429997:C:A
Gene:: NTAQ1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.123429998C>A, NC_000008.10:g.124442238C>A, XR_928337.4:n.275C>A, XR_928337.3:n.324C>A, XR_928337.2:n.324C>A, XR_928337.1:n.324C>A, XM_006716597.4:c.199C>A, XM_006716597.3:c.199C>A, XM_006716597.2:c.199C>A, XM_006716597.1:c.199C>A, NM_018024.3:c.199C>A, NM_018024.2:c.199C>A, NM_018024.1:c.199C>A, XR_002956636.2:n.248C>A, XR_002956636.1:n.272C>A, XR_002956635.2:n.248C>A, XR_002956635.1:n.272C>A, NR_133926.2:n.199C>A, NR_133926.1:n.248C>A, XR_007060738.1:n.275C>A, XR_007060742.1:n.248C>A, XR_007060736.1:n.275C>A, XR_007060739.1:n.275C>A, XR_007060741.1:n.248C>A, NM_001283027.1:c.-107C>A, NM_001283024.1:c.19C>A, XR_007060740.1:n.275C>A, XR_007060737.1:n.275C>A, XM_047421923.1:c.19C>A, XP_006716660.1:p.Gln67Lys, NP_060494.1:p.Gln67Lys, NP_001269953.1:p.Gln7Lys, XP_047277879.1:p.Gln7Lys

Select item 14758774126.

rs1475877412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:123438194 (GRCh38)
8:124450434 (GRCh37)
Canonical SPDI:: NC_000008.11:123438193:A:C,NC_000008.11:123438193:A:G
Gene:: NTAQ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.123438194A>C, NC_000008.11:g.123438194A>G, NC_000008.10:g.124450434A>C, NC_000008.10:g.124450434A>G, XM_006716597.4:c.569A>C, XM_006716597.4:c.569A>G, XM_006716597.3:c.569A>C, XM_006716597.3:c.569A>G, XM_006716597.2:c.569A>C, XM_006716597.2:c.569A>G, XM_006716597.1:c.569A>C, XM_006716597.1:c.569A>G, XM_047421923.1:c.389A>C, XM_047421923.1:c.389A>G, XP_006716660.1:p.Tyr190Ser, XP_006716660.1:p.Tyr190Cys, XP_047277879.1:p.Tyr130Ser, XP_047277879.1:p.Tyr130Cys

Select item 14700504137.

rs1470050413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:123437296 (GRCh38)
8:124449536 (GRCh37)
Canonical SPDI:: NC_000008.11:123437295:G:A
Gene:: NTAQ1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.123437296G>A, NC_000008.10:g.124449536G>A, XR_928337.4:n.546G>A, XR_928337.3:n.595G>A, XR_928337.2:n.595G>A, XR_928337.1:n.595G>A, XM_006716597.4:c.470G>A, XM_006716597.3:c.470G>A, XM_006716597.2:c.470G>A, XM_006716597.1:c.470G>A, NM_018024.3:c.470G>A, NM_018024.2:c.470G>A, NM_018024.1:c.470G>A, XR_002956636.2:n.519G>A, XR_002956636.1:n.543G>A, XR_002956635.2:n.519G>A, XR_002956635.1:n.543G>A, NR_133926.2:n.470G>A, NR_133926.1:n.519G>A, XR_007060738.1:n.546G>A, XR_007060742.1:n.519G>A, XR_007060736.1:n.546G>A, XR_007060739.1:n.546G>A, XR_007060741.1:n.519G>A, NM_001283027.1:c.266G>A, NM_001283024.1:c.290G>A, XR_007060740.1:n.546G>A, XR_007060737.1:n.546G>A, XM_047421923.1:c.290G>A, XP_006716660.1:p.Arg157Lys, NP_060494.1:p.Arg157Lys, NP_001269956.1:p.Arg89Lys, NP_001269953.1:p.Arg97Lys, XP_047277879.1:p.Arg97Lys

Select item 14644227058.

rs1464422705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:123436476 (GRCh38)
8:124448716 (GRCh37)
Canonical SPDI:: NC_000008.11:123436475:T:C
Gene:: NTAQ1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.123436476T>C, NC_000008.10:g.124448716T>C, XR_928337.4:n.334T>C, XR_928337.3:n.383T>C, XR_928337.2:n.383T>C, XR_928337.1:n.383T>C, XM_006716597.4:c.258T>C, XM_006716597.3:c.258T>C, XM_006716597.2:c.258T>C, XM_006716597.1:c.258T>C, NM_018024.3:c.258T>C, NM_018024.2:c.258T>C, NM_018024.1:c.258T>C, XR_002956636.2:n.307T>C, XR_002956636.1:n.331T>C, XR_002956635.2:n.307T>C, XR_002956635.1:n.331T>C, NR_133926.2:n.258T>C, NR_133926.1:n.307T>C, XR_007060738.1:n.334T>C, XR_007060742.1:n.307T>C, XR_007060736.1:n.334T>C, XR_007060739.1:n.334T>C, XR_007060741.1:n.307T>C, NM_001283027.1:c.54T>C, NM_001283024.1:c.78T>C, XR_007060740.1:n.334T>C, XR_007060737.1:n.334T>C, XM_047421923.1:c.78T>C

Select item 14637882199.

rs1463788219 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:123436548 (GRCh38)
8:124448788 (GRCh37)
Canonical SPDI:: NC_000008.11:123436547:T:A
Gene:: NTAQ1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.123436548T>A, NC_000008.10:g.124448788T>A, XR_928337.4:n.406T>A, XR_928337.3:n.455T>A, XR_928337.2:n.455T>A, XR_928337.1:n.455T>A, XM_006716597.4:c.330T>A, XM_006716597.3:c.330T>A, XM_006716597.2:c.330T>A, XM_006716597.1:c.330T>A, NM_018024.3:c.330T>A, NM_018024.2:c.330T>A, NM_018024.1:c.330T>A, XR_002956636.2:n.379T>A, XR_002956636.1:n.403T>A, XR_002956635.2:n.379T>A, XR_002956635.1:n.403T>A, NR_133926.2:n.330T>A, NR_133926.1:n.379T>A, XR_007060738.1:n.406T>A, XR_007060742.1:n.379T>A, XR_007060736.1:n.406T>A, XR_007060739.1:n.406T>A, XR_007060741.1:n.379T>A, NM_001283027.1:c.126T>A, NM_001283024.1:c.150T>A, XR_007060740.1:n.406T>A, XR_007060737.1:n.406T>A, XM_047421923.1:c.150T>A

Select item 144999185110.

rs1449991851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:123436581 (GRCh38)
8:124448821 (GRCh37)
Canonical SPDI:: NC_000008.11:123436580:C:G,NC_000008.11:123436580:C:T
Gene:: NTAQ1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.123436581C>G, NC_000008.11:g.123436581C>T, NC_000008.10:g.124448821C>G, NC_000008.10:g.124448821C>T, XR_928337.4:n.439C>G, XR_928337.4:n.439C>T, XR_928337.3:n.488C>G, XR_928337.3:n.488C>T, XR_928337.2:n.488C>G, XR_928337.2:n.488C>T, XR_928337.1:n.488C>G, XR_928337.1:n.488C>T, XM_006716597.4:c.363C>G, XM_006716597.4:c.363C>T, XM_006716597.3:c.363C>G, XM_006716597.3:c.363C>T, XM_006716597.2:c.363C>G, XM_006716597.2:c.363C>T, XM_006716597.1:c.363C>G, XM_006716597.1:c.363C>T, NM_018024.3:c.363C>G, NM_018024.3:c.363C>T, NM_018024.2:c.363C>G, NM_018024.2:c.363C>T, NM_018024.1:c.363C>G, NM_018024.1:c.363C>T, XR_002956636.2:n.412C>G, XR_002956636.2:n.412C>T, XR_002956636.1:n.436C>G, XR_002956636.1:n.436C>T, XR_002956635.2:n.412C>G, XR_002956635.2:n.412C>T, XR_002956635.1:n.436C>G, XR_002956635.1:n.436C>T, NR_133926.2:n.363C>G, NR_133926.2:n.363C>T, NR_133926.1:n.412C>G, NR_133926.1:n.412C>T, XR_007060738.1:n.439C>G, XR_007060738.1:n.439C>T, XR_007060742.1:n.412C>G, XR_007060742.1:n.412C>T, XR_007060736.1:n.439C>G, XR_007060736.1:n.439C>T, XR_007060739.1:n.439C>G, XR_007060739.1:n.439C>T, XR_007060741.1:n.412C>G, XR_007060741.1:n.412C>T, NM_001283027.1:c.159C>G, NM_001283027.1:c.159C>T, NM_001283024.1:c.183C>G, NM_001283024.1:c.183C>T, XR_007060740.1:n.439C>G, XR_007060740.1:n.439C>T, XR_007060737.1:n.439C>G, XR_007060737.1:n.439C>T, XM_047421923.1:c.183C>G, XM_047421923.1:c.183C>T, XP_006716660.1:p.Asp121Glu, NP_060494.1:p.Asp121Glu, NP_001269956.1:p.Asp53Glu, NP_001269953.1:p.Asp61Glu, XP_047277879.1:p.Asp61Glu

Select item 144880430811.

rs1448804308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:123416918 (GRCh38)
8:124429158 (GRCh37)
Canonical SPDI:: NC_000008.11:123416917:C:A,NC_000008.11:123416917:C:T
Gene:: ATAD2 (Varview), NTAQ1 (Varview)
Functional Consequence:: intron_variant,stop_gained,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_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_000008.11:g.123416918C>A, NC_000008.11:g.123416918C>T, NC_000008.10:g.124429158C>A, NC_000008.10:g.124429158C>T, XR_928337.4:n.145C>A, XR_928337.4:n.145C>T, XR_928337.3:n.194C>A, XR_928337.3:n.194C>T, XR_928337.2:n.194C>A, XR_928337.2:n.194C>T, XR_928337.1:n.194C>A, XR_928337.1:n.194C>T, XM_006716597.4:c.69C>A, XM_006716597.4:c.69C>T, XM_006716597.3:c.69C>A, XM_006716597.3:c.69C>T, XM_006716597.2:c.69C>A, XM_006716597.2:c.69C>T, XM_006716597.1:c.69C>A, XM_006716597.1:c.69C>T, NM_018024.3:c.69C>A, NM_018024.3:c.69C>T, NM_018024.2:c.69C>A, NM_018024.2:c.69C>T, NM_018024.1:c.69C>A, NM_018024.1:c.69C>T, XR_007060738.1:n.145C>A, XR_007060738.1:n.145C>T, XR_007060736.1:n.145C>A, XR_007060736.1:n.145C>T, XR_007060739.1:n.145C>A, XR_007060739.1:n.145C>T, XR_007060740.1:n.145C>A, XR_007060740.1:n.145C>T, XR_007060737.1:n.145C>A, XR_007060737.1:n.145C>T, XP_006716660.1:p.Tyr23Ter, NP_060494.1:p.Tyr23Ter

Select item 144281794212.

rs1442817942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:123437320 (GRCh38)
8:124449560 (GRCh37)
Canonical SPDI:: NC_000008.11:123437319:G:A,NC_000008.11:123437319:G:T
Gene:: NTAQ1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.123437320G>A, NC_000008.11:g.123437320G>T, NC_000008.10:g.124449560G>A, NC_000008.10:g.124449560G>T, XR_928337.4:n.570G>A, XR_928337.4:n.570G>T, XR_928337.3:n.619G>A, XR_928337.3:n.619G>T, XR_928337.2:n.619G>A, XR_928337.2:n.619G>T, XR_928337.1:n.619G>A, XR_928337.1:n.619G>T, XM_006716597.4:c.494G>A, XM_006716597.4:c.494G>T, XM_006716597.3:c.494G>A, XM_006716597.3:c.494G>T, XM_006716597.2:c.494G>A, XM_006716597.2:c.494G>T, XM_006716597.1:c.494G>A, XM_006716597.1:c.494G>T, NM_018024.3:c.494G>A, NM_018024.3:c.494G>T, NM_018024.2:c.494G>A, NM_018024.2:c.494G>T, NM_018024.1:c.494G>A, NM_018024.1:c.494G>T, XR_002956636.2:n.543G>A, XR_002956636.2:n.543G>T, XR_002956636.1:n.567G>A, XR_002956636.1:n.567G>T, XR_002956635.2:n.543G>A, XR_002956635.2:n.543G>T, XR_002956635.1:n.567G>A, XR_002956635.1:n.567G>T, NR_133926.2:n.494G>A, NR_133926.2:n.494G>T, NR_133926.1:n.543G>A, NR_133926.1:n.543G>T, XR_007060738.1:n.570G>A, XR_007060738.1:n.570G>T, XR_007060742.1:n.543G>A, XR_007060742.1:n.543G>T, XR_007060736.1:n.570G>A, XR_007060736.1:n.570G>T, XR_007060739.1:n.570G>A, XR_007060739.1:n.570G>T, XR_007060741.1:n.543G>A, XR_007060741.1:n.543G>T, NM_001283027.1:c.290G>A, NM_001283027.1:c.290G>T, NM_001283024.1:c.314G>A, NM_001283024.1:c.314G>T, XR_007060740.1:n.570G>A, XR_007060740.1:n.570G>T, XR_007060737.1:n.570G>A, XR_007060737.1:n.570G>T, XM_047421923.1:c.314G>A, XM_047421923.1:c.314G>T, XP_006716660.1:p.Cys165Tyr, XP_006716660.1:p.Cys165Phe, NP_060494.1:p.Cys165Tyr, NP_060494.1:p.Cys165Phe, NP_001269956.1:p.Cys97Tyr, NP_001269956.1:p.Cys97Phe, NP_001269953.1:p.Cys105Tyr, NP_001269953.1:p.Cys105Phe, XP_047277879.1:p.Cys105Tyr, XP_047277879.1:p.Cys105Phe

Select item 144082103713.

rs1440821037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:123416869 (GRCh38)
8:124429109 (GRCh37)
Canonical SPDI:: NC_000008.11:123416868:C:G
Gene:: ATAD2 (Varview), NTAQ1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.123416869C>G, NC_000008.10:g.124429109C>G, XR_928337.4:n.96C>G, XR_928337.3:n.145C>G, XR_928337.2:n.145C>G, XR_928337.1:n.145C>G, XM_006716597.4:c.20C>G, XM_006716597.3:c.20C>G, XM_006716597.2:c.20C>G, XM_006716597.1:c.20C>G, NM_018024.3:c.20C>G, NM_018024.2:c.20C>G, NM_018024.1:c.20C>G, XR_007060738.1:n.96C>G, XR_007060736.1:n.96C>G, XR_007060739.1:n.96C>G, XR_007060740.1:n.96C>G, XR_007060737.1:n.96C>G, XP_006716660.1:p.Ala7Gly, NP_060494.1:p.Ala7Gly

Select item 143218663314.

rs1432186633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:123438215 (GRCh38)
8:124450455 (GRCh37)
Canonical SPDI:: NC_000008.11:123438214:G:A
Gene:: NTAQ1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,terminator_codon_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.123438215G>A, NC_000008.10:g.124450455G>A, XM_006716597.4:c.590G>A, XM_006716597.3:c.590G>A, XM_006716597.2:c.590G>A, XM_006716597.1:c.590G>A, XM_047421923.1:c.410G>A

Select item 142925641915.

rs1429256419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:123429985 (GRCh38)
8:124442225 (GRCh37)
Canonical SPDI:: NC_000008.11:123429984:A:G
Gene:: NTAQ1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.123429985A>G, NC_000008.10:g.124442225A>G, XR_928337.4:n.262A>G, XR_928337.3:n.311A>G, XR_928337.2:n.311A>G, XR_928337.1:n.311A>G, XM_006716597.4:c.186A>G, XM_006716597.3:c.186A>G, XM_006716597.2:c.186A>G, XM_006716597.1:c.186A>G, NM_018024.3:c.186A>G, NM_018024.2:c.186A>G, NM_018024.1:c.186A>G, XR_002956636.2:n.235A>G, XR_002956636.1:n.259A>G, XR_002956635.2:n.235A>G, XR_002956635.1:n.259A>G, NR_133926.2:n.186A>G, NR_133926.1:n.235A>G, XR_007060738.1:n.262A>G, XR_007060742.1:n.235A>G, XR_007060736.1:n.262A>G, XR_007060739.1:n.262A>G, XR_007060741.1:n.235A>G, NM_001283027.1:c.-120A>G, NM_001283024.1:c.6A>G, XR_007060740.1:n.262A>G, XR_007060737.1:n.262A>G, XM_047421923.1:c.6A>G, XP_006716660.1:p.Ile62Met, NP_060494.1:p.Ile62Met, NP_001269953.1:p.Ile2Met, XP_047277879.1:p.Ile2Met

Select item 142861411816.

rs1428614118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:123416865 (GRCh38)
8:124429105 (GRCh37)
Canonical SPDI:: NC_000008.11:123416864:C:T
Gene:: ATAD2 (Varview), NTAQ1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.123416865C>T, NC_000008.10:g.124429105C>T, XR_928337.4:n.92C>T, XR_928337.3:n.141C>T, XR_928337.2:n.141C>T, XR_928337.1:n.141C>T, XM_006716597.4:c.16C>T, XM_006716597.3:c.16C>T, XM_006716597.2:c.16C>T, XM_006716597.1:c.16C>T, NM_018024.3:c.16C>T, NM_018024.2:c.16C>T, NM_018024.1:c.16C>T, XR_007060738.1:n.92C>T, XR_007060736.1:n.92C>T, XR_007060739.1:n.92C>T, XR_007060740.1:n.92C>T, XR_007060737.1:n.92C>T, XP_006716660.1:p.Pro6Ser, NP_060494.1:p.Pro6Ser

Select item 142285222617.

rs1422852226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:123438200 (GRCh38)
8:124450440 (GRCh37)
Canonical SPDI:: NC_000008.11:123438199:G:T
Gene:: NTAQ1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.123438200G>T, NC_000008.10:g.124450440G>T, XM_006716597.4:c.575G>T, XM_006716597.3:c.575G>T, XM_006716597.2:c.575G>T, XM_006716597.1:c.575G>T, XM_047421923.1:c.395G>T, XP_006716660.1:p.Cys192Phe, XP_047277879.1:p.Cys132Phe

Select item 140877490918.

rs1408774909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:123428001 (GRCh38)
8:124440241 (GRCh37)
Canonical SPDI:: NC_000008.11:123428000:T:C
Gene:: NTAQ1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.123428001T>C, NC_000008.10:g.124440241T>C, XR_928337.4:n.237T>C, XR_928337.3:n.286T>C, XR_928337.2:n.286T>C, XR_928337.1:n.286T>C, XM_006716597.4:c.161T>C, XM_006716597.3:c.161T>C, XM_006716597.2:c.161T>C, XM_006716597.1:c.161T>C, NM_018024.3:c.161T>C, NM_018024.2:c.161T>C, NM_018024.1:c.161T>C, XR_002956636.2:n.210T>C, XR_002956636.1:n.234T>C, XR_002956635.2:n.210T>C, XR_002956635.1:n.234T>C, NR_133926.2:n.161T>C, NR_133926.1:n.210T>C, XR_007060738.1:n.237T>C, XR_007060742.1:n.210T>C, XR_007060736.1:n.237T>C, XR_007060739.1:n.237T>C, XR_007060741.1:n.210T>C, NM_001283027.1:c.-145T>C, NM_001283024.1:c.-20T>C, XR_007060740.1:n.237T>C, XR_007060737.1:n.237T>C, XM_047421923.1:c.-20T>C, XP_006716660.1:p.Phe54Ser, NP_060494.1:p.Phe54Ser

Select item 140765567819.

rs1407655678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:123438214 (GRCh38)
8:124450454 (GRCh37)
Canonical SPDI:: NC_000008.11:123438213:T:C
Gene:: NTAQ1 (Varview)
Functional Consequence:: terminator_codon_variant,intron_variant,stop_lost
HGVS:: NC_000008.11:g.123438214T>C, NC_000008.10:g.124450454T>C, XM_006716597.4:c.589T>C, XM_006716597.3:c.589T>C, XM_006716597.2:c.589T>C, XM_006716597.1:c.589T>C, XM_047421923.1:c.409T>C, XP_006716660.1:p.Ter197Arg, XP_047277879.1:p.Ter137Arg

Select item 140628504120.

rs1406285041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:123436510 (GRCh38)
8:124448750 (GRCh37)
Canonical SPDI:: NC_000008.11:123436509:C:T
Gene:: NTAQ1 (Varview)
Functional Consequence:: non_coding_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=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.123436510C>T, NC_000008.10:g.124448750C>T, XR_928337.4:n.368C>T, XR_928337.3:n.417C>T, XR_928337.2:n.417C>T, XR_928337.1:n.417C>T, XM_006716597.4:c.292C>T, XM_006716597.3:c.292C>T, XM_006716597.2:c.292C>T, XM_006716597.1:c.292C>T, NM_018024.3:c.292C>T, NM_018024.2:c.292C>T, NM_018024.1:c.292C>T, XR_002956636.2:n.341C>T, XR_002956636.1:n.365C>T, XR_002956635.2:n.341C>T, XR_002956635.1:n.365C>T, NR_133926.2:n.292C>T, NR_133926.1:n.341C>T, XR_007060738.1:n.368C>T, XR_007060742.1:n.341C>T, XR_007060736.1:n.368C>T, XR_007060739.1:n.368C>T, XR_007060741.1:n.341C>T, NM_001283027.1:c.88C>T, NM_001283024.1:c.112C>T, XR_007060740.1:n.368C>T, XR_007060737.1:n.368C>T, XM_047421923.1:c.112C>T, XP_006716660.1:p.Leu98Phe, NP_060494.1:p.Leu98Phe, NP_001269956.1:p.Leu30Phe, NP_001269953.1:p.Leu38Phe, XP_047277879.1:p.Leu38Phe

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