SNP Links for Protein (Select 1034616316) - SNP

Links from Protein

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Select item 14904315781.

rs1490431578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:130093463 (GRCh38)
2:130851036 (GRCh37)
Canonical SPDI:: NC_000002.12:130093462:T:C,NC_000002.12:130093462:T:G
Gene:: POTEF (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.130093463T>C, NC_000002.12:g.130093463T>G, NC_000002.11:g.130851036T>C, NC_000002.11:g.130851036T>G, NW_025791762.1:g.263984T>C, NW_025791762.1:g.263984T>G, NM_001099771.2:c.1455A>G, NM_001099771.2:c.1455A>C, XM_017004833.2:c.1485A>G, XM_017004833.2:c.1485A>C, XM_017004833.1:c.1485A>G, XM_017004833.1:c.1485A>C, XM_017004834.2:c.255A>G, XM_017004834.2:c.255A>C, XM_017004834.1:c.255A>G, XM_017004834.1:c.255A>C, XM_017004835.2:c.201A>G, XM_017004835.2:c.201A>C, XM_017004835.1:c.201A>G, XM_017004835.1:c.201A>C, XM_047445721.1:c.1455A>G, XM_047445721.1:c.1455A>C, NP_001093241.1:p.Lys485Asn, XP_016860322.1:p.Lys495Asn, XP_016860323.1:p.Lys85Asn, XP_016860324.1:p.Lys67Asn, XP_047301677.1:p.Lys485Asn

Select item 14903997742.

rs1490399774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130086375 (GRCh38)
2:130843948 (GRCh37)
Canonical SPDI:: NC_000002.12:130086374:C:T
Gene:: POTEF (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=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.130086375C>T, NC_000002.11:g.130843948C>T, NW_025791762.1:g.256892C>T, NM_001099771.2:c.1564G>A, XM_017004833.2:c.1594G>A, XM_017004833.1:c.1594G>A, XM_017004834.2:c.364G>A, XM_017004834.1:c.364G>A, XM_017004835.2:c.310G>A, XM_017004835.1:c.310G>A, XM_047445721.1:c.1564G>A, NP_001093241.1:p.Glu522Lys, XP_016860322.1:p.Glu532Lys, XP_016860323.1:p.Glu122Lys, XP_016860324.1:p.Glu104Lys, XP_047301677.1:p.Glu522Lys

Select item 14897919073.

rs1489791907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:130075260 (GRCh38)
2:130832833 (GRCh37)
Canonical SPDI:: NC_000002.12:130075259:G:A,NC_000002.12:130075259:G:C
Gene:: POTEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.130075260G>A, NC_000002.12:g.130075260G>C, NC_000002.11:g.130832833G>A, NC_000002.11:g.130832833G>C, NW_025791762.1:g.245793G>A, NW_025791762.1:g.245793G>C, NM_001099771.2:c.2212C>T, NM_001099771.2:c.2212C>G, XM_017004833.2:c.2242C>T, XM_017004833.2:c.2242C>G, XM_017004833.1:c.2242C>T, XM_017004833.1:c.2242C>G, XM_017004834.2:c.1012C>T, XM_017004834.2:c.1012C>G, XM_017004834.1:c.1012C>T, XM_017004834.1:c.1012C>G, XM_017004835.2:c.958C>T, XM_017004835.2:c.958C>G, XM_017004835.1:c.958C>T, XM_017004835.1:c.958C>G, XM_047445721.1:c.2212C>T, XM_047445721.1:c.2212C>G, NP_001093241.1:p.Pro738Ser, NP_001093241.1:p.Pro738Ala, XP_016860322.1:p.Pro748Ser, XP_016860322.1:p.Pro748Ala, XP_016860323.1:p.Pro338Ser, XP_016860323.1:p.Pro338Ala, XP_016860324.1:p.Pro320Ser, XP_016860324.1:p.Pro320Ala, XP_047301677.1:p.Pro738Ser, XP_047301677.1:p.Pro738Ala

Select item 14890679364.

rs1489067936 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:130100704 (GRCh38)
2:130858277 (GRCh37)
Canonical SPDI:: NC_000002.12:130100703:GG:G
Gene:: POTEF (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.130100705del, NC_000002.11:g.130858278del, NW_025791762.1:g.277283del, NM_001099771.2:c.1214del, XM_017004833.2:c.1244del, XM_017004833.1:c.1244del, XM_017004834.2:c.14del, XM_017004834.1:c.14del, XM_047445721.1:c.1214del, NP_001093241.1:p.Pro405fs, XP_016860322.1:p.Pro415fs, XP_016860323.1:p.Pro5fs, XP_047301677.1:p.Pro405fs

Select item 14882671035.

rs1488267103 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:130074653 (GRCh38)
2:130832226 (GRCh37)
Canonical SPDI:: NC_000002.12:130074652:T:C
Gene:: POTEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.130074653T>C, NC_000002.11:g.130832226T>C, NW_025791762.1:g.245186T>C, NM_001099771.2:c.2819A>G, XM_017004833.2:c.2849A>G, XM_017004833.1:c.2849A>G, XM_017004834.2:c.1619A>G, XM_017004834.1:c.1619A>G, XM_017004835.2:c.1565A>G, XM_017004835.1:c.1565A>G, XM_047445721.1:c.2819A>G, NP_001093241.1:p.Tyr940Cys, XP_016860322.1:p.Tyr950Cys, XP_016860323.1:p.Tyr540Cys, XP_016860324.1:p.Tyr522Cys, XP_047301677.1:p.Tyr940Cys

Select item 14879306526.

rs1487930652 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATC>- [Show Flanks]
Chromosome:: 2:130075297 (GRCh38)
2:130832870 (GRCh37)
Canonical SPDI:: NC_000002.12:130075295:CATC:C
Gene:: POTEF (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.130075297_130075299del, NC_000002.11:g.130832870_130832872del, NW_025791762.1:g.245830_245832del, NM_001099771.2:c.2174_2176del, XM_017004833.2:c.2204_2206del, XM_017004833.1:c.2204_2206del, XM_017004834.2:c.974_976del, XM_017004834.1:c.974_976del, XM_017004835.2:c.920_922del, XM_017004835.1:c.920_922del, XM_047445721.1:c.2174_2176del, NP_001093241.1:p.Asp725del, XP_016860322.1:p.Asp735del, XP_016860323.1:p.Asp325del, XP_016860324.1:p.Asp307del, XP_047301677.1:p.Asp725del

Select item 14870784907.

rs1487078490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:130074449 (GRCh38)
2:130832022 (GRCh37)
Canonical SPDI:: NC_000002.12:130074448:C:A
Gene:: POTEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.130074449C>A, NC_000002.11:g.130832022C>A, NW_025791762.1:g.244982C>A, NM_001099771.2:c.3023G>T, XM_017004833.2:c.3053G>T, XM_017004833.1:c.3053G>T, XM_017004834.2:c.1823G>T, XM_017004834.1:c.1823G>T, XM_017004835.2:c.1769G>T, XM_017004835.1:c.1769G>T, XM_047445721.1:c.3023G>T, NP_001093241.1:p.Gly1008Val, XP_016860322.1:p.Gly1018Val, XP_016860323.1:p.Gly608Val, XP_016860324.1:p.Gly590Val, XP_047301677.1:p.Gly1008Val

Select item 14861316208.

rs1486131620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130075329 (GRCh38)
2:130832902 (GRCh37)
Canonical SPDI:: NC_000002.12:130075328:C:T
Gene:: POTEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130075329C>T, NC_000002.11:g.130832902C>T, NW_025791762.1:g.245862C>T, NM_001099771.2:c.2143G>A, XM_017004833.2:c.2173G>A, XM_017004833.1:c.2173G>A, XM_017004834.2:c.943G>A, XM_017004834.1:c.943G>A, XM_017004835.2:c.889G>A, XM_017004835.1:c.889G>A, XM_047445721.1:c.2143G>A, NP_001093241.1:p.Gly715Ser, XP_016860322.1:p.Gly725Ser, XP_016860323.1:p.Gly315Ser, XP_016860324.1:p.Gly297Ser, XP_047301677.1:p.Gly715Ser

Select item 14859443849.

rs1485944384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:130075507 (GRCh38)
2:130833080 (GRCh37)
Canonical SPDI:: NC_000002.12:130075506:A:G
Gene:: POTEF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130075507A>G, NC_000002.11:g.130833080A>G, NW_025791762.1:g.246040A>G, NM_001099771.2:c.1965T>C, XM_017004833.2:c.1995T>C, XM_017004833.1:c.1995T>C, XM_017004834.2:c.765T>C, XM_017004834.1:c.765T>C, XM_017004835.2:c.711T>C, XM_017004835.1:c.711T>C, XM_047445721.1:c.1965T>C

Select item 148583571010.

rs1485835710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:130100704 (GRCh38)
2:130858277 (GRCh37)
Canonical SPDI:: NC_000002.12:130100703:G:A
Gene:: POTEF (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.130100704G>A, NC_000002.11:g.130858277G>A, NW_025791762.1:g.277282G>A, NM_001099771.2:c.1214C>T, XM_017004833.2:c.1244C>T, XM_017004833.1:c.1244C>T, XM_017004834.2:c.14C>T, XM_017004834.1:c.14C>T, XM_047445721.1:c.1214C>T, NP_001093241.1:p.Pro405Leu, XP_016860322.1:p.Pro415Leu, XP_016860323.1:p.Pro5Leu, XP_047301677.1:p.Pro405Leu

Select item 148459645511.

rs1484596455 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:130075568 (GRCh38)
2:130833141 (GRCh37)
Canonical SPDI:: NC_000002.12:130075567:G:
Gene:: POTEF (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130075568del, NC_000002.11:g.130833141del, NW_025791762.1:g.246101del, NM_001099771.2:c.1904del, XM_017004833.2:c.1934del, XM_017004833.1:c.1934del, XM_017004834.2:c.704del, XM_017004834.1:c.704del, XM_017004835.2:c.650del, XM_017004835.1:c.650del, XM_047445721.1:c.1904del, NP_001093241.1:p.Ser635fs, XP_016860322.1:p.Ser645fs, XP_016860323.1:p.Ser235fs, XP_016860324.1:p.Ser217fs, XP_047301677.1:p.Ser635fs

Select item 148459287912.

rs1484592879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:130075553 (GRCh38)
2:130833126 (GRCh37)
Canonical SPDI:: NC_000002.12:130075552:T:G
Gene:: POTEF (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_000002.12:g.130075553T>G, NC_000002.11:g.130833126T>G, NW_025791762.1:g.246086T>G, NM_001099771.2:c.1919A>C, XM_017004833.2:c.1949A>C, XM_017004833.1:c.1949A>C, XM_017004834.2:c.719A>C, XM_017004834.1:c.719A>C, XM_017004835.2:c.665A>C, XM_017004835.1:c.665A>C, XM_047445721.1:c.1919A>C, NP_001093241.1:p.Lys640Thr, XP_016860322.1:p.Lys650Thr, XP_016860323.1:p.Lys240Thr, XP_016860324.1:p.Lys222Thr, XP_047301677.1:p.Lys640Thr

Select item 148450491613.

rs1484504916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:130074700 (GRCh38)
2:130832273 (GRCh37)
Canonical SPDI:: NC_000002.12:130074699:C:A
Gene:: POTEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.130074700C>A, NC_000002.11:g.130832273C>A, NW_025791762.1:g.245233C>A, NM_001099771.2:c.2772G>T, XM_017004833.2:c.2802G>T, XM_017004833.1:c.2802G>T, XM_017004834.2:c.1572G>T, XM_017004834.1:c.1572G>T, XM_017004835.2:c.1518G>T, XM_017004835.1:c.1518G>T, XM_047445721.1:c.2772G>T, NP_001093241.1:p.Glu924Asp, XP_016860322.1:p.Glu934Asp, XP_016860323.1:p.Glu524Asp, XP_016860324.1:p.Glu506Asp, XP_047301677.1:p.Glu924Asp

Select item 148331073914.

rs1483310739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:130077153 (GRCh38)
2:130834726 (GRCh37)
Canonical SPDI:: NC_000002.12:130077152:A:G
Gene:: POTEF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.130077153A>G, NC_000002.11:g.130834726A>G, NW_025791762.1:g.247688A>G, NM_001099771.2:c.1827T>C, XM_017004833.2:c.1857T>C, XM_017004833.1:c.1857T>C, XM_017004834.2:c.627T>C, XM_017004834.1:c.627T>C, XM_017004835.2:c.573T>C, XM_017004835.1:c.573T>C, XM_047445721.1:c.1827T>C

Select item 148263433515.

rs1482634335 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:130075070 (GRCh38)
2:130832644 (GRCh37)
Canonical SPDI:: NC_000002.12:130075070:G:GG
Gene:: POTEF (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.130075071dup, NC_000002.11:g.130832644dup, NW_025791762.1:g.245604dup, NM_001099771.2:c.2401dup, XM_017004833.2:c.2431dup, XM_017004833.1:c.2431dup, XM_017004834.2:c.1201dup, XM_017004834.1:c.1201dup, XM_017004835.2:c.1147dup, XM_017004835.1:c.1147dup, XM_047445721.1:c.2401dup, NP_001093241.1:p.His801fs, XP_016860322.1:p.His811fs, XP_016860323.1:p.His401fs, XP_016860324.1:p.His383fs, XP_047301677.1:p.His801fs

Select item 148253746816.

rs1482537468 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:130074778 (GRCh38)
2:130832351 (GRCh37)
Canonical SPDI:: NC_000002.12:130074777:A:G
Gene:: POTEF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.130074778A>G, NC_000002.11:g.130832351A>G, NW_025791762.1:g.245311A>G, NM_001099771.2:c.2694T>C, XM_017004833.2:c.2724T>C, XM_017004833.1:c.2724T>C, XM_017004834.2:c.1494T>C, XM_017004834.1:c.1494T>C, XM_017004835.2:c.1440T>C, XM_017004835.1:c.1440T>C, XM_047445721.1:c.2694T>C

Select item 148221138317.

rs1482211383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:130074620 (GRCh38)
2:130832193 (GRCh37)
Canonical SPDI:: NC_000002.12:130074619:C:T
Gene:: POTEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.130074620C>T, NC_000002.11:g.130832193C>T, NW_025791762.1:g.245153C>T, NM_001099771.2:c.2852G>A, XM_017004833.2:c.2882G>A, XM_017004833.1:c.2882G>A, XM_017004834.2:c.1652G>A, XM_017004834.1:c.1652G>A, XM_017004835.2:c.1598G>A, XM_017004835.1:c.1598G>A, XM_047445721.1:c.2852G>A, NP_001093241.1:p.Gly951Asp, XP_016860322.1:p.Gly961Asp, XP_016860323.1:p.Gly551Asp, XP_016860324.1:p.Gly533Asp, XP_047301677.1:p.Gly951Asp

Select item 148202952618.

rs1482029526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:130074737 (GRCh38)
2:130832310 (GRCh37)
Canonical SPDI:: NC_000002.12:130074736:A:T
Gene:: POTEF (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)
HGVS:: NC_000002.12:g.130074737A>T, NC_000002.11:g.130832310A>T, NW_025791762.1:g.245270A>T, NM_001099771.2:c.2735T>A, XM_017004833.2:c.2765T>A, XM_017004833.1:c.2765T>A, XM_017004834.2:c.1535T>A, XM_017004834.1:c.1535T>A, XM_017004835.2:c.1481T>A, XM_017004835.1:c.1481T>A, XM_047445721.1:c.2735T>A, NP_001093241.1:p.Ile912Asn, XP_016860322.1:p.Ile922Asn, XP_016860323.1:p.Ile512Asn, XP_016860324.1:p.Ile494Asn, XP_047301677.1:p.Ile912Asn

Select item 148159068219.

rs1481590682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:130074338 (GRCh38)
2:130831911 (GRCh37)
Canonical SPDI:: NC_000002.12:130074337:A:G
Gene:: POTEF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.130074338A>G, NC_000002.11:g.130831911A>G, NW_025791762.1:g.244871A>G, NM_001099771.2:c.3134T>C, XM_017004833.2:c.3164T>C, XM_017004833.1:c.3164T>C, XM_017004834.2:c.1934T>C, XM_017004834.1:c.1934T>C, XM_017004835.2:c.1880T>C, XM_017004835.1:c.1880T>C, XM_047445721.1:c.3134T>C, NP_001093241.1:p.Ile1045Thr, XP_016860322.1:p.Ile1055Thr, XP_016860323.1:p.Ile645Thr, XP_016860324.1:p.Ile627Thr, XP_047301677.1:p.Ile1045Thr

Select item 148099132120.

rs1480991321 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:130075541 (GRCh38)
2:130833114 (GRCh37)
Canonical SPDI:: NC_000002.12:130075540:A:G
Gene:: POTEF (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_000002.12:g.130075541A>G, NC_000002.11:g.130833114A>G, NW_025791762.1:g.246074A>G, NM_001099771.2:c.1931T>C, XM_017004833.2:c.1961T>C, XM_017004833.1:c.1961T>C, XM_017004834.2:c.731T>C, XM_017004834.1:c.731T>C, XM_017004835.2:c.677T>C, XM_017004835.1:c.677T>C, XM_047445721.1:c.1931T>C, NP_001093241.1:p.Ile644Thr, XP_016860322.1:p.Ile654Thr, XP_016860323.1:p.Ile244Thr, XP_016860324.1:p.Ile226Thr, XP_047301677.1:p.Ile644Thr

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