SNP Links for Protein (Select 221316663) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:126211032 (GRCh38)
11:126080927 (GRCh37)
Canonical SPDI:: NC_000011.10:126211031:C:T
Gene:: FAM118B (Varview), RPUSD4 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_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.126211032C>T, NC_000011.9:g.126080927C>T, NG_017156.1:g.4309C>T, NM_032795.3:c.213G>A, NM_032795.2:c.213G>A, NM_001363516.2:c.213G>A, NM_001363516.1:c.213G>A, NM_001144827.2:c.213G>A, NM_001144827.1:c.213G>A

Select item 14676915508.

rs1467691550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:126204238 (GRCh38)
11:126074133 (GRCh37)
Canonical SPDI:: NC_000011.10:126204237:G:A,NC_000011.10:126204237:G:C
Gene:: RPUSD4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.126204238G>A, NC_000011.10:g.126204238G>C, NC_000011.9:g.126074133G>A, NC_000011.9:g.126074133G>C, NM_032795.3:c.887C>T, NM_032795.3:c.887C>G, NM_032795.2:c.887C>T, NM_032795.2:c.887C>G, XM_011543039.3:c.308C>T, XM_011543039.3:c.308C>G, XM_011543039.2:c.308C>T, XM_011543039.2:c.308C>G, XM_011543039.1:c.308C>T, XM_011543039.1:c.308C>G, NM_001363516.2:c.887C>T, NM_001363516.2:c.887C>G, NM_001363516.1:c.887C>T, NM_001363516.1:c.887C>G, NM_001144827.2:c.794C>T, NM_001144827.2:c.794C>G, NM_001144827.1:c.794C>T, NM_001144827.1:c.794C>G, NP_116184.2:p.Ala296Val, NP_116184.2:p.Ala296Gly, XP_011541341.1:p.Ala103Val, XP_011541341.1:p.Ala103Gly, NP_001350445.1:p.Ala296Val, NP_001350445.1:p.Ala296Gly, NP_001138299.1:p.Ala265Val, NP_001138299.1:p.Ala265Gly

Select item 14653097459.

rs1465309745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:126203493 (GRCh38)
11:126073388 (GRCh37)
Canonical SPDI:: NC_000011.10:126203492:C:T
Gene:: RPUSD4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.126203493C>T, NC_000011.9:g.126073388C>T, NM_032795.3:c.1059G>A, NM_032795.2:c.1059G>A, XM_011543039.3:c.480G>A, XM_011543039.2:c.480G>A, XM_011543039.1:c.480G>A, NM_001363516.2:c.1056G>A, NM_001363516.1:c.1056G>A, NM_001144827.2:c.966G>A, NM_001144827.1:c.966G>A

Select item 146362909710.

rs1463629097 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 11:126203509 (GRCh38)
11:126073404 (GRCh37)
Canonical SPDI:: NC_000011.10:126203505:AAGAAG:AAG
Gene:: RPUSD4 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.126203506AAG[1], NC_000011.9:g.126073401AAG[1], NM_032795.3:c.1041CTT[1], NM_032795.2:c.1041CTT[1], XM_011543039.3:c.462CTT[1], XM_011543039.2:c.462CTT[1], XM_011543039.1:c.462CTT[1], NM_001363516.2:c.1038CTT[1], NM_001363516.1:c.1038CTT[1], NM_001144827.2:c.948CTT[1], NM_001144827.1:c.948CTT[1], NP_116184.2:p.Phe349del, XP_011541341.1:p.Phe156del, NP_001350445.1:p.Phe348del, NP_001138299.1:p.Phe318del

Select item 146355014611.

rs1463550146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:126205576 (GRCh38)
11:126075471 (GRCh37)
Canonical SPDI:: NC_000011.10:126205575:T:C
Gene:: RPUSD4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.126205576T>C, NC_000011.9:g.126075471T>C, NM_032795.3:c.688A>G, NM_032795.2:c.688A>G, XM_011543039.3:c.109A>G, XM_011543039.2:c.109A>G, XM_011543039.1:c.109A>G, NM_001363516.2:c.688A>G, NM_001363516.1:c.688A>G, NP_116184.2:p.Lys230Glu, XP_011541341.1:p.Lys37Glu, NP_001350445.1:p.Lys230Glu

Select item 146014446712.

rs1460144467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:126210910 (GRCh38)
11:126080805 (GRCh37)
Canonical SPDI:: NC_000011.10:126210909:G:A
Gene:: FAM118B (Varview), RPUSD4 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.126210910G>A, NC_000011.9:g.126080805G>A, NG_017156.1:g.4187G>A, NM_032795.3:c.335C>T, NM_032795.2:c.335C>T, NM_001363516.2:c.335C>T, NM_001363516.1:c.335C>T, NM_001144827.2:c.335C>T, NM_001144827.1:c.335C>T, NP_116184.2:p.Pro112Leu, NP_001350445.1:p.Pro112Leu, NP_001138299.1:p.Pro112Leu

Select item 145645568113.

rs1456455681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:126205552 (GRCh38)
11:126075447 (GRCh37)
Canonical SPDI:: NC_000011.10:126205551:G:A
Gene:: RPUSD4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.126205552G>A, NC_000011.9:g.126075447G>A, NM_032795.3:c.712C>T, NM_032795.2:c.712C>T, XM_011543039.3:c.133C>T, XM_011543039.2:c.133C>T, XM_011543039.1:c.133C>T, NM_001363516.2:c.712C>T, NM_001363516.1:c.712C>T, NP_116184.2:p.Arg238Trp, XP_011541341.1:p.Arg45Trp, NP_001350445.1:p.Arg238Trp

Select item 145344082714.

rs1453440827 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:126211614 (GRCh38)
11:126081509 (GRCh37)
Canonical SPDI:: NC_000011.10:126211613:A:G
Gene:: FAM118B (Varview), RPUSD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000248/4 (TOMMO)
HGVS:: NC_000011.10:g.126211614A>G, NC_000011.9:g.126081509A>G, NG_017156.1:g.4891A>G, NM_032795.3:c.25T>C, NM_032795.2:c.25T>C, NM_001363516.2:c.25T>C, NM_001363516.1:c.25T>C, NM_001144827.2:c.25T>C, NM_001144827.1:c.25T>C, NP_116184.2:p.Ser9Pro, NP_001350445.1:p.Ser9Pro, NP_001138299.1:p.Ser9Pro

Select item 144860318615.

rs1448603186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:126209543 (GRCh38)
11:126079438 (GRCh37)
Canonical SPDI:: NC_000011.10:126209542:G:A
Gene:: RPUSD4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.126209543G>A, NC_000011.9:g.126079438G>A, NG_017156.1:g.2820G>A, NM_032795.3:c.535C>T, NM_032795.2:c.535C>T, XM_011543039.3:c.-72C>T, XM_011543039.2:c.-72C>T, XM_011543039.1:c.-72C>T, NM_001363516.2:c.535C>T, NM_001363516.1:c.535C>T, NM_001144827.2:c.535C>T, NM_001144827.1:c.535C>T, NP_116184.2:p.Arg179Cys, NP_001350445.1:p.Arg179Cys, NP_001138299.1:p.Arg179Cys

Select item 144777752016.

rs1447777520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:126204244 (GRCh38)
11:126074139 (GRCh37)
Canonical SPDI:: NC_000011.10:126204243:C:G,NC_000011.10:126204243:C:T
Gene:: RPUSD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.126204244C>G, NC_000011.10:g.126204244C>T, NC_000011.9:g.126074139C>G, NC_000011.9:g.126074139C>T, NM_032795.3:c.881G>C, NM_032795.3:c.881G>A, NM_032795.2:c.881G>C, NM_032795.2:c.881G>A, XM_011543039.3:c.302G>C, XM_011543039.3:c.302G>A, XM_011543039.2:c.302G>C, XM_011543039.2:c.302G>A, XM_011543039.1:c.302G>C, XM_011543039.1:c.302G>A, NM_001363516.2:c.881G>C, NM_001363516.2:c.881G>A, NM_001363516.1:c.881G>C, NM_001363516.1:c.881G>A, NM_001144827.2:c.788G>C, NM_001144827.2:c.788G>A, NM_001144827.1:c.788G>C, NM_001144827.1:c.788G>A, NP_116184.2:p.Arg294Thr, NP_116184.2:p.Arg294Lys, XP_011541341.1:p.Arg101Thr, XP_011541341.1:p.Arg101Lys, NP_001350445.1:p.Arg294Thr, NP_001350445.1:p.Arg294Lys, NP_001138299.1:p.Arg263Thr, NP_001138299.1:p.Arg263Lys

Select item 144767916417.

rs1447679164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:126209701 (GRCh38)
11:126079596 (GRCh37)
Canonical SPDI:: NC_000011.10:126209700:C:T
Gene:: RPUSD4 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.126209701C>T, NC_000011.9:g.126079596C>T, NG_017156.1:g.2978C>T, NM_032795.3:c.377G>A, NM_032795.2:c.377G>A, NM_001363516.2:c.377G>A, NM_001363516.1:c.377G>A, NM_001144827.2:c.377G>A, NM_001144827.1:c.377G>A, NP_116184.2:p.Cys126Tyr, NP_001350445.1:p.Cys126Tyr, NP_001138299.1:p.Cys126Tyr

Select item 144660286418.

rs1446602864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:126205483 (GRCh38)
11:126075378 (GRCh37)
Canonical SPDI:: NC_000011.10:126205482:G:A
Gene:: RPUSD4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.126205483G>A, NC_000011.9:g.126075378G>A, NM_032795.3:c.781C>T, NM_032795.2:c.781C>T, XM_011543039.3:c.202C>T, XM_011543039.2:c.202C>T, XM_011543039.1:c.202C>T, NM_001363516.2:c.781C>T, NM_001363516.1:c.781C>T, NM_001144827.2:c.688C>T, NM_001144827.1:c.688C>T, NP_116184.2:p.Leu261Phe, XP_011541341.1:p.Leu68Phe, NP_001350445.1:p.Leu261Phe, NP_001138299.1:p.Leu230Phe

Select item 144540968619.

rs1445409686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:126211027 (GRCh38)
11:126080922 (GRCh37)
Canonical SPDI:: NC_000011.10:126211026:A:G
Gene:: FAM118B (Varview), RPUSD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.126211027A>G, NC_000011.9:g.126080922A>G, NG_017156.1:g.4304A>G, NM_032795.3:c.218T>C, NM_032795.2:c.218T>C, NM_001363516.2:c.218T>C, NM_001363516.1:c.218T>C, NM_001144827.2:c.218T>C, NM_001144827.1:c.218T>C, NP_116184.2:p.Val73Ala, NP_001350445.1:p.Val73Ala, NP_001138299.1:p.Val73Ala

Select item 144486035720.

rs1444860357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:126205768 (GRCh38)
11:126075663 (GRCh37)
Canonical SPDI:: NC_000011.10:126205767:G:A
Gene:: RPUSD4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.126205768G>A, NC_000011.9:g.126075663G>A, NM_032795.3:c.571C>T, NM_032795.2:c.571C>T, XM_011543039.3:c.-9C>T, XM_011543039.2:c.-9C>T, XM_011543039.1:c.-9C>T, NM_001363516.2:c.571C>T, NM_001363516.1:c.571C>T, NM_001144827.2:c.571C>T, NM_001144827.1:c.571C>T, NP_116184.2:p.His191Tyr, NP_001350445.1:p.His191Tyr, NP_001138299.1:p.His191Tyr

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