SNP Links for Protein (Select 148728170) - SNP

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Links from Protein

Items: 1 to 20 of 135

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Select item 14702752941.

rs1470275294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:20364382 (GRCh38)
11:20385928 (GRCh37)
Canonical SPDI:: NC_000011.10:20364381:C:G,NC_000011.10:20364381:C:T
Gene:: HTATIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.20364382C>G, NC_000011.10:g.20364382C>T, NC_000011.9:g.20385928C>G, NC_000011.9:g.20385928C>T, NM_006410.5:c.145C>G, NM_006410.5:c.145C>T, NM_006410.4:c.145C>G, NM_006410.4:c.145C>T, NM_001098522.2:c.145C>G, NM_001098522.2:c.145C>T, NM_001098522.1:c.145C>G, NM_001098522.1:c.145C>T, NM_001098520.2:c.247C>G, NM_001098520.2:c.247C>T, NM_001098520.1:c.247C>G, NM_001098520.1:c.247C>T, NM_001098521.2:c.145C>G, NM_001098521.2:c.145C>T, NM_001098521.1:c.145C>G, NM_001098521.1:c.145C>T, NM_001098523.2:c.145C>G, NM_001098523.2:c.145C>T, NM_001098523.1:c.145C>G, NM_001098523.1:c.145C>T, NP_006401.3:p.Leu49Val, NP_006401.3:p.Leu49Phe, NP_001091992.1:p.Leu49Val, NP_001091992.1:p.Leu49Phe, NP_001091990.1:p.Leu83Val, NP_001091990.1:p.Leu83Phe, NP_001091991.1:p.Leu49Val, NP_001091991.1:p.Leu49Phe, NP_001091993.1:p.Leu49Val, NP_001091993.1:p.Leu49Phe

Select item 14624343232.

rs1462434323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:20367332 (GRCh38)
11:20388878 (GRCh37)
Canonical SPDI:: NC_000011.10:20367331:G:C
Gene:: HTATIP2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.20367332G>C, NC_000011.9:g.20388878G>C, NG_055750.2:g.186G>C, NM_001098523.2:c.354G>C, NM_001098523.1:c.354G>C, NP_001091993.1:p.Arg118Ser

Select item 14599154183.

rs1459915418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:20367258 (GRCh38)
11:20388804 (GRCh37)
Canonical SPDI:: NC_000011.10:20367257:A:G
Gene:: HTATIP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.20367258A>G, NC_000011.9:g.20388804A>G, NG_055750.2:g.112A>G, NM_006410.5:c.280A>G, NM_006410.4:c.280A>G, NM_001098522.2:c.280A>G, NM_001098522.1:c.280A>G, NM_001098520.2:c.382A>G, NM_001098520.1:c.382A>G, NM_001098521.2:c.280A>G, NM_001098521.1:c.280A>G, NM_001098523.2:c.280A>G, NM_001098523.1:c.280A>G, NP_006401.3:p.Thr94Ala, NP_001091992.1:p.Thr94Ala, NP_001091990.1:p.Thr128Ala, NP_001091991.1:p.Thr94Ala, NP_001091993.1:p.Thr94Ala

Select item 14548139784.

rs1454813978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:20367308 (GRCh38)
11:20388854 (GRCh37)
Canonical SPDI:: NC_000011.10:20367307:T:C,NC_000011.10:20367307:T:G
Gene:: HTATIP2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.20367308T>C, NC_000011.10:g.20367308T>G, NC_000011.9:g.20388854T>C, NC_000011.9:g.20388854T>G, NG_055750.2:g.162T>C, NG_055750.2:g.162T>G, NM_001098523.2:c.330T>C, NM_001098523.2:c.330T>G, NM_001098523.1:c.330T>C, NM_001098523.1:c.330T>G

Select item 14517318815.

rs1451731881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:20364325 (GRCh38)
11:20385871 (GRCh37)
Canonical SPDI:: NC_000011.10:20364324:A:G
Gene:: HTATIP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.20364325A>G, NC_000011.9:g.20385871A>G, NM_006410.5:c.88A>G, NM_006410.4:c.88A>G, NM_001098522.2:c.88A>G, NM_001098522.1:c.88A>G, NM_001098520.2:c.190A>G, NM_001098520.1:c.190A>G, NM_001098521.2:c.88A>G, NM_001098521.1:c.88A>G, NM_001098523.2:c.88A>G, NM_001098523.1:c.88A>G, NP_006401.3:p.Thr30Ala, NP_001091992.1:p.Thr30Ala, NP_001091990.1:p.Thr64Ala, NP_001091991.1:p.Thr30Ala, NP_001091993.1:p.Thr30Ala

Select item 14455991306.

rs1445599130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:20364358 (GRCh38)
11:20385904 (GRCh37)
Canonical SPDI:: NC_000011.10:20364357:C:T
Gene:: HTATIP2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.20364358C>T, NC_000011.9:g.20385904C>T, NM_006410.5:c.121C>T, NM_006410.4:c.121C>T, NM_001098522.2:c.121C>T, NM_001098522.1:c.121C>T, NM_001098520.2:c.223C>T, NM_001098520.1:c.223C>T, NM_001098521.2:c.121C>T, NM_001098521.1:c.121C>T, NM_001098523.2:c.121C>T, NM_001098523.1:c.121C>T, NP_006401.3:p.Gln41Ter, NP_001091992.1:p.Gln41Ter, NP_001091990.1:p.Gln75Ter, NP_001091991.1:p.Gln41Ter, NP_001091993.1:p.Gln41Ter

Select item 14410505287.

rs1441050528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:20367363 (GRCh38)
11:20388909 (GRCh37)
Canonical SPDI:: NC_000011.10:20367362:G:T
Gene:: HTATIP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.20367363G>T, NC_000011.9:g.20388909G>T, NG_055750.2:g.217G>T, NM_001098523.2:c.385G>T, NM_001098523.1:c.385G>T, NP_001091993.1:p.Ala129Ser

Select item 14338203788.

rs1433820378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:20364408 (GRCh38)
11:20385954 (GRCh37)
Canonical SPDI:: NC_000011.10:20364407:C:A
Gene:: HTATIP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.20364408C>A, NC_000011.9:g.20385954C>A, NM_006410.5:c.171C>A, NM_006410.4:c.171C>A, NM_001098522.2:c.171C>A, NM_001098522.1:c.171C>A, NM_001098520.2:c.273C>A, NM_001098520.1:c.273C>A, NM_001098521.2:c.171C>A, NM_001098521.1:c.171C>A, NM_001098523.2:c.171C>A, NM_001098523.1:c.171C>A, NP_006401.3:p.Phe57Leu, NP_001091992.1:p.Phe57Leu, NP_001091990.1:p.Phe91Leu, NP_001091991.1:p.Phe57Leu, NP_001091993.1:p.Phe57Leu

Select item 14280623519.

rs1428062351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:20364250 (GRCh38)
11:20385796 (GRCh37)
Canonical SPDI:: NC_000011.10:20364249:G:A
Gene:: HTATIP2 (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=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.20364250G>A, NC_000011.9:g.20385796G>A, NM_006410.5:c.13G>A, NM_006410.4:c.13G>A, NM_001098522.2:c.13G>A, NM_001098522.1:c.13G>A, NM_001098520.2:c.115G>A, NM_001098520.1:c.115G>A, NM_001098521.2:c.13G>A, NM_001098521.1:c.13G>A, NM_001098523.2:c.13G>A, NM_001098523.1:c.13G>A, NP_006401.3:p.Glu5Lys, NP_001091992.1:p.Glu5Lys, NP_001091990.1:p.Glu39Lys, NP_001091991.1:p.Glu5Lys, NP_001091993.1:p.Glu5Lys

Select item 142655843010.

rs1426558430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:20367357 (GRCh38)
11:20388903 (GRCh37)
Canonical SPDI:: NC_000011.10:20367356:C:T
Gene:: HTATIP2 (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 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.20367357C>T, NC_000011.9:g.20388903C>T, NG_055750.2:g.211C>T, NM_001098523.2:c.379C>T, NM_001098523.1:c.379C>T, NP_001091993.1:p.Leu127Phe

Select item 138821137111.

rs1388211371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:20364360 (GRCh38)
11:20385906 (GRCh37)
Canonical SPDI:: NC_000011.10:20364359:G:C
Gene:: HTATIP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.20364360G>C, NC_000011.9:g.20385906G>C, NM_006410.5:c.123G>C, NM_006410.4:c.123G>C, NM_001098522.2:c.123G>C, NM_001098522.1:c.123G>C, NM_001098520.2:c.225G>C, NM_001098520.1:c.225G>C, NM_001098521.2:c.123G>C, NM_001098521.1:c.123G>C, NM_001098523.2:c.123G>C, NM_001098523.1:c.123G>C, NP_006401.3:p.Gln41His, NP_001091992.1:p.Gln41His, NP_001091990.1:p.Gln75His, NP_001091991.1:p.Gln41His, NP_001091993.1:p.Gln41His

Select item 138393178312.

rs1383931783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:20367306 (GRCh38)
11:20388852 (GRCh37)
Canonical SPDI:: NC_000011.10:20367305:C:G,NC_000011.10:20367305:C:T
Gene:: HTATIP2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.20367306C>G, NC_000011.10:g.20367306C>T, NC_000011.9:g.20388852C>G, NC_000011.9:g.20388852C>T, NG_055750.2:g.160C>G, NG_055750.2:g.160C>T, NM_001098523.2:c.328C>G, NM_001098523.2:c.328C>T, NM_001098523.1:c.328C>G, NM_001098523.1:c.328C>T, NP_001091993.1:p.Pro110Ala, NP_001091993.1:p.Pro110Ser

Select item 138177642213.

rs1381776422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:20364261 (GRCh38)
11:20385807 (GRCh37)
Canonical SPDI:: NC_000011.10:20364260:G:A
Gene:: HTATIP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.20364261G>A, NC_000011.9:g.20385807G>A, NM_006410.5:c.24G>A, NM_006410.4:c.24G>A, NM_001098522.2:c.24G>A, NM_001098522.1:c.24G>A, NM_001098520.2:c.126G>A, NM_001098520.1:c.126G>A, NM_001098521.2:c.24G>A, NM_001098521.1:c.24G>A, NM_001098523.2:c.24G>A, NM_001098523.1:c.24G>A

Select item 138084945314.

rs1380849453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:20367348 (GRCh38)
11:20388894 (GRCh37)
Canonical SPDI:: NC_000011.10:20367347:A:T
Gene:: HTATIP2 (Varview)
Functional Consequence:: intron_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_000011.10:g.20367348A>T, NC_000011.9:g.20388894A>T, NG_055750.2:g.202A>T, NM_001098523.2:c.370A>T, NM_001098523.1:c.370A>T, NP_001091993.1:p.Thr124Ser