SNP Links for Protein (Select 333440442) - SNP

Links from Protein

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Select item 14909602631.

rs1490960263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30772138 (GRCh38)
16:30783459 (GRCh37)
Canonical SPDI:: NC_000016.10:30772137:A:G
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30772138A>G, NC_000016.9:g.30783459A>G, NM_014771.4:c.2777A>G, NM_014771.3:c.2777A>G, NM_001286572.3:c.2777A>G, NM_001286572.2:c.2777A>G, NM_001286572.1:c.2777A>G, NM_001207033.1:c.2774A>G, NM_001207034.1:c.2477A>G, NM_194352.1:c.*336A>G, NP_055586.1:p.Glu926Gly, NP_001273501.1:p.Glu926Gly, NP_001193962.1:p.Glu925Gly, NP_001193963.1:p.Glu826Gly

Select item 14909353322.

rs1490935332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:30768361 (GRCh38)
16:30779682 (GRCh37)
Canonical SPDI:: NC_000016.10:30768360:C:G,NC_000016.10:30768360:C:T
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30768361C>G, NC_000016.10:g.30768361C>T, NC_000016.9:g.30779682C>G, NC_000016.9:g.30779682C>T, NM_014771.4:c.1810C>G, NM_014771.4:c.1810C>T, NM_014771.3:c.1810C>G, NM_014771.3:c.1810C>T, NM_001286572.3:c.1810C>G, NM_001286572.3:c.1810C>T, NM_001286572.2:c.1810C>G, NM_001286572.2:c.1810C>T, NM_001286572.1:c.1810C>G, NM_001286572.1:c.1810C>T, NM_001207033.1:c.1810C>G, NM_001207033.1:c.1810C>T, NM_001207034.1:c.1510C>G, NM_001207034.1:c.1510C>T, NM_194352.1:c.1810C>G, NM_194352.1:c.1810C>T, NP_055586.1:p.Arg604Gly, NP_055586.1:p.Arg604Ter, NP_001273501.1:p.Arg604Gly, NP_001273501.1:p.Arg604Ter, NP_001193962.1:p.Arg604Gly, NP_001193962.1:p.Arg604Ter, NP_001193963.1:p.Arg504Gly, NP_001193963.1:p.Arg504Ter

Select item 14896147913.

rs1489614791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30763269 (GRCh38)
16:30774590 (GRCh37)
Canonical SPDI:: NC_000016.10:30763268:A:G
Gene:: RNF40 (Varview), CFAP119 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_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_000016.10:g.30763269A>G, NC_000016.9:g.30774590A>G, NM_014771.4:c.284A>G, NM_014771.3:c.284A>G, NM_001286572.3:c.284A>G, NM_001286572.2:c.284A>G, NM_001286572.1:c.284A>G, NM_001207033.1:c.284A>G, NM_001207034.1:c.284A>G, XR_007064931.1:n.394A>G, NM_194352.1:c.284A>G, NP_055586.1:p.Asn95Ser, NP_001273501.1:p.Asn95Ser, NP_001193962.1:p.Asn95Ser, NP_001193963.1:p.Asn95Ser

Select item 14892436144.

rs1489243614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30769398 (GRCh38)
16:30780719 (GRCh37)
Canonical SPDI:: NC_000016.10:30769397:G:T
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30769398G>T, NC_000016.9:g.30780719G>T, NM_014771.4:c.2460G>T, NM_014771.3:c.2460G>T, NM_001286572.3:c.2460G>T, NM_001286572.2:c.2460G>T, NM_001286572.1:c.2460G>T, NM_001207033.1:c.2460G>T, NM_001207034.1:c.2160G>T, NM_194352.1:c.2460G>T, NP_055586.1:p.Gln820His, NP_001273501.1:p.Gln820His, NP_001193962.1:p.Gln820His, NP_001193963.1:p.Gln720His

Select item 14882087885.

rs1488208788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30768663 (GRCh38)
16:30779984 (GRCh37)
Canonical SPDI:: NC_000016.10:30768662:T:C
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.30768663T>C, NC_000016.9:g.30779984T>C, NM_014771.4:c.2024T>C, NM_014771.3:c.2024T>C, NM_001286572.3:c.2024T>C, NM_001286572.2:c.2024T>C, NM_001286572.1:c.2024T>C, NM_001207033.1:c.2024T>C, NM_001207034.1:c.1724T>C, XR_007064931.1:n.2007T>C, NM_194352.1:c.2024T>C, NP_055586.1:p.Met675Thr, NP_001273501.1:p.Met675Thr, NP_001193962.1:p.Met675Thr, NP_001193963.1:p.Met575Thr

Select item 14873124036.

rs1487312403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30768637 (GRCh38)
16:30779958 (GRCh37)
Canonical SPDI:: NC_000016.10:30768636:G:A
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30768637G>A, NC_000016.9:g.30779958G>A, NM_014771.4:c.1998G>A, NM_014771.3:c.1998G>A, NM_001286572.3:c.1998G>A, NM_001286572.2:c.1998G>A, NM_001286572.1:c.1998G>A, NM_001207033.1:c.1998G>A, NM_001207034.1:c.1698G>A, XR_007064931.1:n.1981G>A, NM_194352.1:c.1998G>A

Select item 14862990597.

rs1486299059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:30768644 (GRCh38)
16:30779965 (GRCh37)
Canonical SPDI:: NC_000016.10:30768643:A:C
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30768644A>C, NC_000016.9:g.30779965A>C, NM_014771.4:c.2005A>C, NM_014771.3:c.2005A>C, NM_001286572.3:c.2005A>C, NM_001286572.2:c.2005A>C, NM_001286572.1:c.2005A>C, NM_001207033.1:c.2005A>C, NM_001207034.1:c.1705A>C, XR_007064931.1:n.1988A>C, NM_194352.1:c.2005A>C, NP_055586.1:p.Met669Leu, NP_001273501.1:p.Met669Leu, NP_001193962.1:p.Met669Leu, NP_001193963.1:p.Met569Leu

Select item 14847845128.

rs1484784512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30764203 (GRCh38)
16:30775524 (GRCh37)
Canonical SPDI:: NC_000016.10:30764202:C:T
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30764203C>T, NC_000016.9:g.30775524C>T, NM_014771.4:c.467C>T, NM_014771.3:c.467C>T, NM_001286572.3:c.467C>T, NM_001286572.2:c.467C>T, NM_001286572.1:c.467C>T, NM_001207033.1:c.467C>T, NM_001207034.1:c.467C>T, XR_007064931.1:n.577C>T, NM_194352.1:c.467C>T, NP_055586.1:p.Pro156Leu, NP_001273501.1:p.Pro156Leu, NP_001193962.1:p.Pro156Leu, NP_001193963.1:p.Pro156Leu

Select item 14835812419.

rs1483581241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30769544 (GRCh38)
16:30780865 (GRCh37)
Canonical SPDI:: NC_000016.10:30769543:G:A
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30769544G>A, NC_000016.9:g.30780865G>A, NM_014771.4:c.2530G>A, NM_014771.3:c.2530G>A, NM_001286572.3:c.2530G>A, NM_001286572.2:c.2530G>A, NM_001286572.1:c.2530G>A, NM_001207033.1:c.2530G>A, NM_001207034.1:c.2230G>A, NM_194352.1:c.*89G>A, NP_055586.1:p.Gly844Ser, NP_001273501.1:p.Gly844Ser, NP_001193962.1:p.Gly844Ser, NP_001193963.1:p.Gly744Ser

Select item 148259516410.

rs1482595164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:30762639 (GRCh38)
16:30773960 (GRCh37)
Canonical SPDI:: NC_000016.10:30762638:C:G
Gene:: RNF40 (Varview), CFAP119 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30762639C>G, NC_000016.9:g.30773960C>G, NG_016616.2:g.19341C>G, NM_014771.4:c.94C>G, NM_014771.3:c.94C>G, NM_001286572.3:c.94C>G, NM_001286572.2:c.94C>G, NM_001286572.1:c.94C>G, NM_001207033.1:c.94C>G, NM_001207034.1:c.94C>G, XR_007064931.1:n.204C>G, NM_194352.1:c.94C>G, NP_055586.1:p.Leu32Val, NP_001273501.1:p.Leu32Val, NP_001193962.1:p.Leu32Val, NP_001193963.1:p.Leu32Val

Select item 148192070311.

rs1481920703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30768122 (GRCh38)
16:30779443 (GRCh37)
Canonical SPDI:: NC_000016.10:30768121:G:A
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.30768122G>A, NC_000016.9:g.30779443G>A, NM_014771.4:c.1571G>A, NM_014771.3:c.1571G>A, NM_001286572.3:c.1571G>A, NM_001286572.2:c.1571G>A, NM_001286572.1:c.1571G>A, NM_001207033.1:c.1571G>A, NM_001207034.1:c.1271G>A, XR_007064931.1:n.1681G>A, NM_194352.1:c.1571G>A, NP_055586.1:p.Gly524Asp, NP_001273501.1:p.Gly524Asp, NP_001193962.1:p.Gly524Asp, NP_001193963.1:p.Gly424Asp

Select item 148164697212.

rs1481646972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30765270 (GRCh38)
16:30776591 (GRCh37)
Canonical SPDI:: NC_000016.10:30765269:G:A
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.30765270G>A, NC_000016.9:g.30776591G>A, NM_014771.4:c.861G>A, NM_014771.3:c.861G>A, NM_001286572.3:c.861G>A, NM_001286572.2:c.861G>A, NM_001286572.1:c.861G>A, NM_001207033.1:c.861G>A, NM_001207034.1:c.861G>A, XR_007064931.1:n.971G>A, NM_194352.1:c.861G>A

Select item 148163829813.

rs1481638298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30768134 (GRCh38)
16:30779455 (GRCh37)
Canonical SPDI:: NC_000016.10:30768133:C:T
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.30768134C>T, NC_000016.9:g.30779455C>T, NM_014771.4:c.1583C>T, NM_014771.3:c.1583C>T, NM_001286572.3:c.1583C>T, NM_001286572.2:c.1583C>T, NM_001286572.1:c.1583C>T, NM_001207033.1:c.1583C>T, NM_001207034.1:c.1283C>T, XR_007064931.1:n.1693C>T, NM_194352.1:c.1583C>T, NP_055586.1:p.Ser528Phe, NP_001273501.1:p.Ser528Phe, NP_001193962.1:p.Ser528Phe, NP_001193963.1:p.Ser428Phe

Select item 148162985814.

rs1481629858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30765201 (GRCh38)
16:30776522 (GRCh37)
Canonical SPDI:: NC_000016.10:30765200:A:G
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000016.10:g.30765201A>G, NC_000016.9:g.30776522A>G, NM_014771.4:c.792A>G, NM_014771.3:c.792A>G, NM_001286572.3:c.792A>G, NM_001286572.2:c.792A>G, NM_001286572.1:c.792A>G, NM_001207033.1:c.792A>G, NM_001207034.1:c.792A>G, XR_007064931.1:n.902A>G, NM_194352.1:c.792A>G

Select item 148083352815.

rs1480833528 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 16:30765475 (GRCh38)
16:30776796 (GRCh37)
Canonical SPDI:: NC_000016.10:30765474:CC:
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30765475_30765476del, NC_000016.9:g.30776796_30776797del, NM_014771.4:c.969_970del, NM_014771.3:c.969_970del, NM_001286572.3:c.969_970del, NM_001286572.2:c.969_970del, NM_001286572.1:c.969_970del, NM_001207033.1:c.969_970del, NM_001207034.1:c.969_970del, XR_007064931.1:n.1079_1080del, NM_194352.1:c.969_970del, NP_055586.1:p.Gln324fs, NP_001273501.1:p.Gln324fs, NP_001193962.1:p.Gln324fs, NP_001193963.1:p.Gln324fs

Select item 148059035416.

rs1480590354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30764297 (GRCh38)
16:30775618 (GRCh37)
Canonical SPDI:: NC_000016.10:30764296:C:T
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.30764297C>T, NC_000016.9:g.30775618C>T, NM_014771.4:c.561C>T, NM_014771.3:c.561C>T, NM_001286572.3:c.561C>T, NM_001286572.2:c.561C>T, NM_001286572.1:c.561C>T, NM_001207033.1:c.561C>T, NM_001207034.1:c.561C>T, XR_007064931.1:n.671C>T, NM_194352.1:c.561C>T

Select item 148019465617.

rs1480194656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30774043 (GRCh38)
16:30785364 (GRCh37)
Canonical SPDI:: NC_000016.10:30774042:C:T
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.30774043C>T, NC_000016.9:g.30785364C>T, NM_014771.4:c.2935C>T, NM_014771.3:c.2935C>T, NM_001286572.3:c.2935C>T, NM_001286572.2:c.2935C>T, NM_001286572.1:c.2935C>T, NM_001207033.1:c.2932C>T, NM_001207034.1:c.2635C>T, NM_194352.1:c.*494C>T, NP_055586.1:p.Arg979Cys, NP_001273501.1:p.Arg979Cys, NP_001193962.1:p.Arg978Cys, NP_001193963.1:p.Arg879Cys

Select item 147946745118.

rs1479467451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:30772147 (GRCh38)
16:30783468 (GRCh37)
Canonical SPDI:: NC_000016.10:30772146:C:A,NC_000016.10:30772146:C:T
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30772147C>A, NC_000016.10:g.30772147C>T, NC_000016.9:g.30783468C>A, NC_000016.9:g.30783468C>T, NM_014771.4:c.2786C>A, NM_014771.4:c.2786C>T, NM_014771.3:c.2786C>A, NM_014771.3:c.2786C>T, NM_001286572.3:c.2786C>A, NM_001286572.3:c.2786C>T, NM_001286572.2:c.2786C>A, NM_001286572.2:c.2786C>T, NM_001286572.1:c.2786C>A, NM_001286572.1:c.2786C>T, NM_001207033.1:c.2783C>A, NM_001207033.1:c.2783C>T, NM_001207034.1:c.2486C>A, NM_001207034.1:c.2486C>T, NM_194352.1:c.*345C>A, NM_194352.1:c.*345C>T, NP_055586.1:p.Ala929Glu, NP_055586.1:p.Ala929Val, NP_001273501.1:p.Ala929Glu, NP_001273501.1:p.Ala929Val, NP_001193962.1:p.Ala928Glu, NP_001193962.1:p.Ala928Val, NP_001193963.1:p.Ala829Glu, NP_001193963.1:p.Ala829Val

Select item 147874988619.

rs1478749886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30768858 (GRCh38)
16:30780179 (GRCh37)
Canonical SPDI:: NC_000016.10:30768857:C:T
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30768858C>T, NC_000016.9:g.30780179C>T, NM_014771.4:c.2118C>T, NM_014771.3:c.2118C>T, NM_001286572.3:c.2118C>T, NM_001286572.2:c.2118C>T, NM_001286572.1:c.2118C>T, NM_001207033.1:c.2118C>T, NM_001207034.1:c.1818C>T, XR_007064931.1:n.2101C>T, NM_194352.1:c.2118C>T

Select item 147414699720.

rs1474146997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30771925 (GRCh38)
16:30783246 (GRCh37)
Canonical SPDI:: NC_000016.10:30771924:G:A
Gene:: RNF40 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30771925G>A, NC_000016.9:g.30783246G>A, NM_014771.4:c.2679G>A, NM_014771.3:c.2679G>A, NM_001286572.3:c.2679G>A, NM_001286572.2:c.2679G>A, NM_001286572.1:c.2679G>A, NM_001207033.1:c.2679G>A, NM_001207034.1:c.2379G>A, NM_194352.1:c.*238G>A

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