SNP Links for Protein (Select 52317094) - SNP

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Links from Protein

Items: 1 to 20 of 364

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Select item 14871965261.

rs1487196526 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:20144459 (GRCh38)
14:20612619 (GRCh37)
Canonical SPDI:: NC_000014.9:20144459:CCC:CCCC
Gene:: OR4N5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20144462dup, NW_025791796.1:g.347143dup, NC_000014.8:g.20612621dup, NM_001004724.2:c.727dup, NM_001004724.1:c.727dup, NP_001004724.1:p.His243fs

Select item 14828015592.

rs1482801559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:20144515 (GRCh38)
14:20612674 (GRCh37)
Canonical SPDI:: NC_000014.9:20144514:C:G
Gene:: OR4N5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20144515C>G, NW_025791796.1:g.347196C>G, NC_000014.8:g.20612674C>G, NM_001004724.2:c.780C>G, NM_001004724.1:c.780C>G, NP_001004724.1:p.Cys260Trp

Select item 14747036933.

rs1474703693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20144470 (GRCh38)
14:20612629 (GRCh37)
Canonical SPDI:: NC_000014.9:20144469:C:T
Gene:: OR4N5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20144470C>T, NW_025791796.1:g.347151C>T, NC_000014.8:g.20612629C>T, NM_001004724.2:c.735C>T, NM_001004724.1:c.735C>T

Select item 14719624864.

rs1471962486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:20144174 (GRCh38)
14:20612333 (GRCh37)
Canonical SPDI:: NC_000014.9:20144173:G:A,NC_000014.9:20144173:G:C
Gene:: OR4N5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.20144174G>A, NC_000014.9:g.20144174G>C, NW_025791796.1:g.346855G>A, NW_025791796.1:g.346855G>C, NC_000014.8:g.20612333G>A, NC_000014.8:g.20612333G>C, NM_001004724.2:c.439G>A, NM_001004724.2:c.439G>C, NM_001004724.1:c.439G>A, NM_001004724.1:c.439G>C, NP_001004724.1:p.Val147Ile, NP_001004724.1:p.Val147Leu

Select item 14691072315.

rs1469107231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20143745 (GRCh38)
14:20611904 (GRCh37)
Canonical SPDI:: NC_000014.9:20143744:C:T
Gene:: OR4N5 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20143745C>T, NW_025791796.1:g.346426C>T, NC_000014.8:g.20611904C>T, NM_001004724.2:c.10C>T, NM_001004724.1:c.10C>T, NP_001004724.1:p.Gln4Ter

Select item 14670211496.

rs1467021149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 14:20144287 (GRCh38)
14:20612446 (GRCh37)
Canonical SPDI:: NC_000014.9:20144286:C:A,NC_000014.9:20144286:C:G
Gene:: OR4N5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.20144287C>A, NC_000014.9:g.20144287C>G, NW_025791796.1:g.346968C>A, NW_025791796.1:g.346968C>G, NC_000014.8:g.20612446C>A, NC_000014.8:g.20612446C>G, NM_001004724.2:c.552C>A, NM_001004724.2:c.552C>G, NM_001004724.1:c.552C>A, NM_001004724.1:c.552C>G

Select item 14667582297.

rs1466758229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20144109 (GRCh38)
14:20612268 (GRCh37)
Canonical SPDI:: NC_000014.9:20144108:C:T
Gene:: OR4N5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20144109C>T, NW_025791796.1:g.346790C>T, NC_000014.8:g.20612268C>T, NM_001004724.2:c.374C>T, NM_001004724.1:c.374C>T, NP_001004724.1:p.Ala125Val

Select item 14663215768.

rs1466321576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 14:20143828 (GRCh38)
14:20611987 (GRCh37)
Canonical SPDI:: NC_000014.9:20143827:C:A,NC_000014.9:20143827:C:G
Gene:: OR4N5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.20143828C>A, NC_000014.9:g.20143828C>G, NW_025791796.1:g.346509C>A, NW_025791796.1:g.346509C>G, NC_000014.8:g.20611987C>A, NC_000014.8:g.20611987C>G, NM_001004724.2:c.93C>A, NM_001004724.2:c.93C>G, NM_001004724.1:c.93C>A, NM_001004724.1:c.93C>G

Select item 14604911139.

rs1460491113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:20144422 (GRCh38)
14:20612581 (GRCh37)
Canonical SPDI:: NC_000014.9:20144421:C:G,NC_000014.9:20144421:C:T
Gene:: OR4N5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20144422C>G, NC_000014.9:g.20144422C>T, NW_025791796.1:g.347103C>G, NW_025791796.1:g.347103C>T, NC_000014.8:g.20612581C>G, NC_000014.8:g.20612581C>T, NM_001004724.2:c.687C>G, NM_001004724.2:c.687C>T, NM_001004724.1:c.687C>G, NM_001004724.1:c.687C>T

Select item 145387978210.

rs1453879782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:20143865 (GRCh38)
14:20612024 (GRCh37)
Canonical SPDI:: NC_000014.9:20143864:C:G,NC_000014.9:20143864:C:T
Gene:: OR4N5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20143865C>G, NC_000014.9:g.20143865C>T, NW_025791796.1:g.346546C>G, NW_025791796.1:g.346546C>T, NC_000014.8:g.20612024C>G, NC_000014.8:g.20612024C>T, NM_001004724.2:c.130C>G, NM_001004724.2:c.130C>T, NM_001004724.1:c.130C>G, NM_001004724.1:c.130C>T, NP_001004724.1:p.Leu44Val, NP_001004724.1:p.Leu44Phe

Select item 145202432711.

rs1452024327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20144066 (GRCh38)
14:20612225 (GRCh37)
Canonical SPDI:: NC_000014.9:20144065:G:A
Gene:: OR4N5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20144066G>A, NW_025791796.1:g.346747G>A, NC_000014.8:g.20612225G>A, NM_001004724.2:c.331G>A, NM_001004724.1:c.331G>A, NP_001004724.1:p.Glu111Lys

Select item 145140611912.

rs1451406119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20143757 (GRCh38)
14:20611916 (GRCh37)
Canonical SPDI:: NC_000014.9:20143756:G:A
Gene:: OR4N5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20143757G>A, NW_025791796.1:g.346438G>A, NC_000014.8:g.20611916G>A, NM_001004724.2:c.22G>A, NM_001004724.1:c.22G>A, NP_001004724.1:p.Val8Met

Select item 144895597513.

rs1448955975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20144372 (GRCh38)
14:20612531 (GRCh37)
Canonical SPDI:: NC_000014.9:20144371:G:A
Gene:: OR4N5 (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_000014.9:g.20144372G>A, NW_025791796.1:g.347053G>A, NC_000014.8:g.20612531G>A, NM_001004724.2:c.637G>A, NM_001004724.1:c.637G>A, NP_001004724.1:p.Gly213Ser

Select item 144591441214.

rs1445914412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:20144167 (GRCh38)
14:20612326 (GRCh37)
Canonical SPDI:: NC_000014.9:20144166:A:G
Gene:: OR4N5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20144167A>G, NW_025791796.1:g.346848A>G, NC_000014.8:g.20612326A>G, NM_001004724.2:c.432A>G, NM_001004724.1:c.432A>G

Select item 144399881315.

rs1443998813 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:20144208 (GRCh38)
14:20612367 (GRCh37)
Canonical SPDI:: NC_000014.9:20144207:T:C
Gene:: OR4N5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20144208T>C, NW_025791796.1:g.346889T>C, NC_000014.8:g.20612367T>C, NM_001004724.2:c.473T>C, NM_001004724.1:c.473T>C, NP_001004724.1:p.Val158Ala

Select item 144329488516.

rs1443294885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:20144006 (GRCh38)
14:20612165 (GRCh37)
Canonical SPDI:: NC_000014.9:20144005:G:A,NC_000014.9:20144005:G:T
Gene:: OR4N5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20144006G>A, NC_000014.9:g.20144006G>T, NW_025791796.1:g.346687G>A, NW_025791796.1:g.346687G>T, NC_000014.8:g.20612165G>A, NC_000014.8:g.20612165G>T, NM_001004724.2:c.271G>A, NM_001004724.2:c.271G>T, NM_001004724.1:c.271G>A, NM_001004724.1:c.271G>T, NP_001004724.1:p.Val91Ile, NP_001004724.1:p.Val91Leu

Select item 144311988517.

rs1443119885 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:20144613 (GRCh38)
14:20612773 (GRCh37)
Canonical SPDI:: NC_000014.9:20144613:GG:GGG
Gene:: OR4N5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20144615dup, NW_025791796.1:g.347296dup, NC_000014.8:g.20612774dup, NM_001004724.2:c.880dup, NM_001004724.1:c.880dup, NP_001004724.1:p.Val294fs

Select item 143988848418.

rs1439888484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:20143947 (GRCh38)
14:20612106 (GRCh37)
Canonical SPDI:: NC_000014.9:20143946:C:A
Gene:: OR4N5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000014.9:g.20143947C>A, NW_025791796.1:g.346628C>A, NC_000014.8:g.20612106C>A, NM_001004724.2:c.212C>A, NM_001004724.1:c.212C>A, NP_001004724.1:p.Ala71Glu

Select item 143944308219.

rs1439443082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:20144366 (GRCh38)
14:20612525 (GRCh37)
Canonical SPDI:: NC_000014.9:20144365:T:C
Gene:: OR4N5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20144366T>C, NW_025791796.1:g.347047T>C, NC_000014.8:g.20612525T>C, NM_001004724.2:c.631T>C, NM_001004724.1:c.631T>C, NP_001004724.1:p.Phe211Leu

Select item 143873222420.

rs1438732224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:20144089 (GRCh38)
14:20612248 (GRCh37)
Canonical SPDI:: NC_000014.9:20144088:G:T
Gene:: OR4N5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20144089G>T, NW_025791796.1:g.346770G>T, NC_000014.8:g.20612248G>T, NM_001004724.2:c.354G>T, NM_001004724.1:c.354G>T, NP_001004724.1:p.Met118Ile

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