SNP Links for Protein (Select 16118240) - SNP

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Links from Protein

Items: 1 to 20 of 261

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Select item 14844998281.

rs1484499828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41226672 (GRCh38)
17:39382924 (GRCh37)
Canonical SPDI:: NC_000017.11:41226671:C:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000048/1 (ALFA)
T=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41226672C>T, NC_000017.10:g.39382924C>T, NW_025791801.1:g.176866C>T, NW_003871092.1:g.70116G>A, NM_031961.3:c.18C>T, NM_031961.2:c.18C>T

Select item 14803777712.

rs1480377771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41227013 (GRCh38)
17:39383265 (GRCh37)
Canonical SPDI:: NC_000017.11:41227012:G:C
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41227013G>C, NC_000017.10:g.39383265G>C, NW_025791801.1:g.177207G>C, NW_003871092.1:g.69775C>G, NM_031961.3:c.359G>C, NM_031961.2:c.359G>C, NP_114167.2:p.Cys120Ser

Select item 14741773883.

rs1474177388 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:41226947 (GRCh38)
17:39383199 (GRCh37)
Canonical SPDI:: NC_000017.11:41226946:AAA:AA
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000111/1 (ALFA)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41226949del, NC_000017.10:g.39383201del, NW_025791801.1:g.177143del, NW_003871092.1:g.69841del, NM_031961.3:c.295del, NM_031961.2:c.295del, NP_114167.2:p.Thr99fs

Select item 14722285814.

rs1472228581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41226980 (GRCh38)
17:39383232 (GRCh37)
Canonical SPDI:: NC_000017.11:41226979:G:A
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41226980G>A, NC_000017.10:g.39383232G>A, NW_025791801.1:g.177174G>A, NW_003871092.1:g.69808C>T, NM_031961.3:c.326G>A, NM_031961.2:c.326G>A, NP_114167.2:p.Ser109Asn

Select item 14709331795.

rs1470933179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41227178 (GRCh38)
17:39383430 (GRCh37)
Canonical SPDI:: NC_000017.11:41227177:G:A
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41227178G>A, NC_000017.10:g.39383430G>A, NW_025791801.1:g.177360G>A, NW_003871092.1:g.69610C>T, NM_031961.3:c.524G>A, NM_031961.2:c.524G>A

Select item 14706793626.

rs1470679362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41227021 (GRCh38)
17:39383273 (GRCh37)
Canonical SPDI:: NC_000017.11:41227020:C:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41227021C>T, NC_000017.10:g.39383273C>T, NW_025791801.1:g.177215C>T, NW_003871092.1:g.69767G>A, NM_031961.3:c.367C>T, NM_031961.2:c.367C>T, NP_114167.2:p.Pro123Ser

Select item 14629843787.

rs1462984378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41227101 (GRCh38)
17:39383353 (GRCh37)
Canonical SPDI:: NC_000017.11:41227100:C:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.41227101C>T, NC_000017.10:g.39383353C>T, NW_025791801.1:g.177283C>T, NW_003871092.1:g.69687G>A, NM_031961.3:c.447C>T, NM_031961.2:c.447C>T

Select item 14624141478.

rs1462414147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41227124 (GRCh38)
17:39383376 (GRCh37)
Canonical SPDI:: NC_000017.11:41227123:C:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: missense_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.41227124C>T, NC_000017.10:g.39383376C>T, NW_025791801.1:g.177306C>T, NW_003871092.1:g.69664G>A, NM_031961.3:c.470C>T, NM_031961.2:c.470C>T, NP_114167.2:p.Thr157Ile

Select item 14616558819.

rs1461655881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41226886 (GRCh38)
17:39383138 (GRCh37)
Canonical SPDI:: NC_000017.11:41226885:C:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41226886C>T, NC_000017.10:g.39383138C>T, NW_025791801.1:g.177080C>T, NW_003871092.1:g.69902G>A, NM_031961.3:c.232C>T, NM_031961.2:c.232C>T, NP_114167.2:p.Pro78Ser

Select item 145617451310.

rs1456174513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:41226871 (GRCh38)
17:39383123 (GRCh37)
Canonical SPDI:: NC_000017.11:41226870:A:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41226871A>T, NC_000017.10:g.39383123A>T, NW_025791801.1:g.177065A>T, NW_003871092.1:g.69917T>A, NM_031961.3:c.217A>T, NM_031961.2:c.217A>T, NP_114167.2:p.Thr73Ser

Select item 145228491411.

rs1452284914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:41226907 (GRCh38)
17:39383159 (GRCh37)
Canonical SPDI:: NC_000017.11:41226906:T:A
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41226907T>A, NC_000017.10:g.39383159T>A, NW_025791801.1:g.177101T>A, NW_003871092.1:g.69881A>T, NM_031961.3:c.253T>A, NM_031961.2:c.253T>A, NP_114167.2:p.Cys85Ser

Select item 145005906112.

rs1450059061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41227139 (GRCh38)
17:39383391 (GRCh37)
Canonical SPDI:: NC_000017.11:41227138:C:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41227139C>T, NC_000017.10:g.39383391C>T, NW_025791801.1:g.177321C>T, NW_003871092.1:g.69649G>A, NM_031961.3:c.485C>T, NM_031961.2:c.485C>T, NP_114167.2:p.Pro162Leu

Select item 144493468013.

rs1444934680 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:41227003 (GRCh38)
17:39383255 (GRCh37)
Canonical SPDI:: NC_000017.11:41227002:A:C
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41227003A>C, NC_000017.10:g.39383255A>C, NW_025791801.1:g.177197A>C, NW_003871092.1:g.69785T>G, NM_031961.3:c.349A>C, NM_031961.2:c.349A>C

Select item 142806491114.

rs1428064911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41227170 (GRCh38)
17:39383422 (GRCh37)
Canonical SPDI:: NC_000017.11:41227169:T:C
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41227170T>C, NC_000017.10:g.39383422T>C, NW_025791801.1:g.177352T>C, NW_003871092.1:g.69618A>G, NM_031961.3:c.516T>C, NM_031961.2:c.516T>C

Select item 142640399715.

rs1426403997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:41227062 (GRCh38)
17:39383314 (GRCh37)
Canonical SPDI:: NC_000017.11:41227061:T:G
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41227062T>G, NC_000017.10:g.39383314T>G, NW_025791801.1:g.177256T>G, NW_003871092.1:g.69726A>C, NM_031961.3:c.408T>G, NM_031961.2:c.408T>G, NP_114167.2:p.Cys136Trp

Select item 142133159516.

rs1421331595 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCACACCCTGCTGCCAGCCCACCTGCTGTGGGTCCAGC [Show Flanks]
Chromosome:: 17:41227174 (GRCh38)
17:39383427 (GRCh37)
Canonical SPDI:: NC_000017.11:41227174:GC:GCAGCACACCCTGCTGCCAGCCCACCTGCTGTGGGTCCAGC
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
HGVS:: NC_000017.11:g.41227175_41227176GCA[2]CACCCTGCTGCCAGCCCACCTGCTGTGGGTCCAGC[1], NC_000017.10:g.39383427_39383428GCA[2]CACCCTGCTGCCAGCCCACCTGCTGTGGGTCCAGC[1], NW_025791801.1:g.177357_177358GCA[2]CACCCTGCTGCCAGCCCACCTGCTGTGGGTCCAGC[1], NW_003871092.1:g.69613_69614insTGGACCCACAGCAGGTGGGCTGGCAGCAGGGTGTGCTGC, NM_031961.3:c.521_522GCA[2]CACCCTGCTGCCAGCCCACCTGCTGTGGGTCCAGC[1], NM_031961.2:c.521_522GCA[2]CACCCTGCTGCCAGCCCACCTGCTGTGGGTCCAGC[1], NP_114167.2:p.*175Serext*13

Select item 141822435917.

rs1418224359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:41226896 (GRCh38)
17:39383148 (GRCh37)
Canonical SPDI:: NC_000017.11:41226895:G:A,NC_000017.11:41226895:G:C
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: 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_000017.11:g.41226896G>A, NC_000017.11:g.41226896G>C, NC_000017.10:g.39383148G>A, NC_000017.10:g.39383148G>C, NW_025791801.1:g.177090G>A, NW_025791801.1:g.177090G>C, NW_003871092.1:g.69892C>T, NW_003871092.1:g.69892C>G, NM_031961.3:c.242G>A, NM_031961.3:c.242G>C, NM_031961.2:c.242G>A, NM_031961.2:c.242G>C, NP_114167.2:p.Cys81Tyr, NP_114167.2:p.Cys81Ser

Select item 141620886818.

rs1416208868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41226696 (GRCh38)
17:39382948 (GRCh37)
Canonical SPDI:: NC_000017.11:41226695:C:T
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41226696C>T, NC_000017.10:g.39382948C>T, NW_025791801.1:g.176890C>T, NW_003871092.1:g.70092G>A, NM_031961.3:c.42C>T, NM_031961.2:c.42C>T

Select item 141464694519.

rs1414646945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41227019 (GRCh38)
17:39383271 (GRCh37)
Canonical SPDI:: NC_000017.11:41227018:A:G
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41227019A>G, NC_000017.10:g.39383271A>G, NW_025791801.1:g.177213A>G, NW_003871092.1:g.69769T>C, NM_031961.3:c.365A>G, NM_031961.2:c.365A>G, NP_114167.2:p.Tyr122Cys

Select item 141220859520.

rs1412208595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41226806 (GRCh38)
17:39383058 (GRCh37)
Canonical SPDI:: NC_000017.11:41226805:G:A
Gene:: KRTAP9-2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.41226806G>A, NC_000017.10:g.39383058G>A, NW_025791801.1:g.177000G>A, NW_003871092.1:g.69982C>T, NM_031961.3:c.152G>A, NM_031961.2:c.152G>A, NP_114167.2:p.Cys51Tyr

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