SNP Links for Protein (Select 13129074) - SNP

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Links from Protein

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Select item 14834251491.

rs1483425149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:32830590 (GRCh38)
11:32852136 (GRCh37)
Canonical SPDI:: NC_000011.10:32830589:T:G
Gene:: PRRG4 (Varview), CCDC73 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32830590T>G, NC_000011.9:g.32852136T>G, NM_024081.6:c.61T>G, NM_024081.5:c.61T>G, XM_006718313.4:c.61T>G, XM_006718313.3:c.475T>G, XM_006718313.2:c.61T>G, XM_006718313.1:c.475T>G, XM_006718314.4:c.61T>G, XM_006718314.3:c.61T>G, XM_006718314.2:c.61T>G, XM_006718314.1:c.61T>G, NP_076986.1:p.Cys21Gly, XP_006718376.4:p.Cys21Gly, XP_006718377.1:p.Cys21Gly

Select item 14706560412.

rs1470656041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:32853336 (GRCh38)
11:32874882 (GRCh37)
Canonical SPDI:: NC_000011.10:32853335:A:G
Gene:: PRRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.32853336A>G, NC_000011.9:g.32874882A>G, NM_024081.6:c.490A>G, NM_024081.5:c.490A>G, XM_006718313.4:c.357A>G, XM_006718313.3:c.771A>G, XM_006718313.2:c.357A>G, XM_006718313.1:c.771A>G, XM_006718314.4:c.490A>G, XM_006718314.3:c.490A>G, XM_006718314.2:c.490A>G, XM_006718314.1:c.490A>G, NP_076986.1:p.Ile164Val, XP_006718377.1:p.Ile164Val

Select item 14673085493.

rs1467308549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:32838912 (GRCh38)
11:32860458 (GRCh37)
Canonical SPDI:: NC_000011.10:32838911:G:A
Gene:: PRRG4 (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_000011.10:g.32838912G>A, NC_000011.9:g.32860458G>A, NM_024081.6:c.298G>A, NM_024081.5:c.298G>A, XM_006718313.4:c.298G>A, XM_006718313.3:c.712G>A, XM_006718313.2:c.298G>A, XM_006718313.1:c.712G>A, XM_006718314.4:c.298G>A, XM_006718314.3:c.298G>A, XM_006718314.2:c.298G>A, XM_006718314.1:c.298G>A, NP_076986.1:p.Gly100Arg, XP_006718376.4:p.Gly100Arg, XP_006718377.1:p.Gly100Arg

Select item 14670695894.

rs1467069589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:32840108 (GRCh38)
11:32861654 (GRCh37)
Canonical SPDI:: NC_000011.10:32840107:T:C
Gene:: PRRG4 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.32840108T>C, NC_000011.9:g.32861654T>C, NM_024081.6:c.318T>C, NM_024081.5:c.318T>C, XM_006718314.4:c.318T>C, XM_006718314.3:c.318T>C, XM_006718314.2:c.318T>C, XM_006718314.1:c.318T>C

Select item 14660253225.

rs1466025322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:32853509 (GRCh38)
11:32875055 (GRCh37)
Canonical SPDI:: NC_000011.10:32853508:G:A
Gene:: PRRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32853509G>A, NC_000011.9:g.32875055G>A, NM_024081.6:c.663G>A, NM_024081.5:c.663G>A, XM_006718313.4:c.*77G>A, XM_006718313.3:c.*77G>A, XM_006718313.2:c.*77G>A, XM_006718314.4:c.663G>A, XM_006718314.3:c.663G>A, XM_006718314.2:c.663G>A, XM_006718314.1:c.663G>A, NP_076986.1:p.Met221Ile, XP_006718377.1:p.Met221Ile

Select item 14620457466.

rs1462045746 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 11:32830630 (GRCh38)
11:32852176 (GRCh37)
Canonical SPDI:: NC_000011.10:32830624:AGAAGAAG:AGAAG
Gene:: PRRG4 (Varview), CCDC73 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: AGAAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.32830627AAG[1], NC_000011.9:g.32852173AAG[1], NM_024081.6:c.98AAG[1], NM_024081.5:c.98AAG[1], XM_006718313.4:c.98AAG[1], XM_006718313.3:c.512AAG[1], XM_006718313.2:c.98AAG[1], XM_006718313.1:c.512AAG[1], XM_006718314.4:c.98AAG[1], XM_006718314.3:c.98AAG[1], XM_006718314.2:c.98AAG[1], XM_006718314.1:c.98AAG[1], NP_076986.1:p.Glu34del, XP_006718376.4:p.Glu34del, XP_006718377.1:p.Glu34del

Select item 14590151707.

rs1459015170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:32853338 (GRCh38)
11:32874884 (GRCh37)
Canonical SPDI:: NC_000011.10:32853337:C:G
Gene:: PRRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32853338C>G, NC_000011.9:g.32874884C>G, NM_024081.6:c.492C>G, NM_024081.5:c.492C>G, XM_006718313.4:c.359C>G, XM_006718313.3:c.773C>G, XM_006718313.2:c.359C>G, XM_006718313.1:c.773C>G, XM_006718314.4:c.492C>G, XM_006718314.3:c.492C>G, XM_006718314.2:c.492C>G, XM_006718314.1:c.492C>G, NP_076986.1:p.Ile164Met, XP_006718376.4:p.Ser120Ter, XP_006718377.1:p.Ile164Met

Select item 14571416738.

rs1457141673 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGA>- [Show Flanks]
Chromosome:: 11:32836752 (GRCh38)
11:32858298 (GRCh37)
Canonical SPDI:: NC_000011.10:32836748:AGAAAGA:AGA
Gene:: PRRG4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.32836752_32836755del, NC_000011.9:g.32858298_32858301del, NM_024081.6:c.198_201del, NM_024081.5:c.198_201del, XM_006718313.4:c.198_201del, XM_006718313.3:c.612_615del, XM_006718313.2:c.198_201del, XM_006718313.1:c.612_615del, XM_006718314.4:c.198_201del, XM_006718314.3:c.198_201del, XM_006718314.2:c.198_201del, XM_006718314.1:c.198_201del, NP_076986.1:p.Arg67fs, XP_006718376.4:p.Arg67fs, XP_006718377.1:p.Arg67fs

Select item 14501528699.

rs1450152869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:32838896 (GRCh38)
11:32860442 (GRCh37)
Canonical SPDI:: NC_000011.10:32838895:G:A
Gene:: PRRG4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.32838896G>A, NC_000011.9:g.32860442G>A, NM_024081.6:c.282G>A, NM_024081.5:c.282G>A, XM_006718313.4:c.282G>A, XM_006718313.3:c.696G>A, XM_006718313.2:c.282G>A, XM_006718313.1:c.696G>A, XM_006718314.4:c.282G>A, XM_006718314.3:c.282G>A, XM_006718314.2:c.282G>A, XM_006718314.1:c.282G>A

Select item 144186175310.

rs1441861753 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:32836757 (GRCh38)
11:32858303 (GRCh37)
Canonical SPDI:: NC_000011.10:32836756:A:G
Gene:: PRRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.32836757A>G, NC_000011.9:g.32858303A>G, NM_024081.6:c.203A>G, NM_024081.5:c.203A>G, XM_006718313.4:c.203A>G, XM_006718313.3:c.617A>G, XM_006718313.2:c.203A>G, XM_006718313.1:c.617A>G, XM_006718314.4:c.203A>G, XM_006718314.3:c.203A>G, XM_006718314.2:c.203A>G, XM_006718314.1:c.203A>G, NP_076986.1:p.Glu68Gly, XP_006718376.4:p.Glu68Gly, XP_006718377.1:p.Glu68Gly

Select item 143933866111.

rs1439338661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:32840223 (GRCh38)
11:32861769 (GRCh37)
Canonical SPDI:: NC_000011.10:32840222:A:G,NC_000011.10:32840222:A:T
Gene:: PRRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000011.10:g.32840223A>G, NC_000011.10:g.32840223A>T, NC_000011.9:g.32861769A>G, NC_000011.9:g.32861769A>T, NM_024081.6:c.433A>G, NM_024081.6:c.433A>T, NM_024081.5:c.433A>G, NM_024081.5:c.433A>T, XM_006718314.4:c.433A>G, XM_006718314.4:c.433A>T, XM_006718314.3:c.433A>G, XM_006718314.3:c.433A>T, XM_006718314.2:c.433A>G, XM_006718314.2:c.433A>T, XM_006718314.1:c.433A>G, XM_006718314.1:c.433A>T, NP_076986.1:p.Arg145Gly, NP_076986.1:p.Arg145Trp, XP_006718377.1:p.Arg145Gly, XP_006718377.1:p.Arg145Trp

Select item 143749252012.

rs1437492520 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:32838926 (GRCh38)
11:32860472 (GRCh37)
Canonical SPDI:: NC_000011.10:32838925:A:C
Gene:: PRRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.32838926A>C, NC_000011.9:g.32860472A>C, NM_024081.6:c.312A>C, NM_024081.5:c.312A>C, XM_006718313.4:c.312A>C, XM_006718313.3:c.726A>C, XM_006718313.2:c.312A>C, XM_006718313.1:c.726A>C, XM_006718314.4:c.312A>C, XM_006718314.3:c.312A>C, XM_006718314.2:c.312A>C, XM_006718314.1:c.312A>C, NP_076986.1:p.Lys104Asn, XP_006718376.4:p.Lys104Asn, XP_006718377.1:p.Lys104Asn

Select item 143546294313.

rs1435462943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:32836766 (GRCh38)
11:32858312 (GRCh37)
Canonical SPDI:: NC_000011.10:32836765:A:C
Gene:: PRRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32836766A>C, NC_000011.9:g.32858312A>C, NM_024081.6:c.212A>C, NM_024081.5:c.212A>C, XM_006718313.4:c.212A>C, XM_006718313.3:c.626A>C, XM_006718313.2:c.212A>C, XM_006718313.1:c.626A>C, XM_006718314.4:c.212A>C, XM_006718314.3:c.212A>C, XM_006718314.2:c.212A>C, XM_006718314.1:c.212A>C, NP_076986.1:p.Glu71Ala, XP_006718376.4:p.Glu71Ala, XP_006718377.1:p.Glu71Ala

Select item 143355841714.

rs1433558417 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:32853341 (GRCh38)
11:32874887 (GRCh37)
Canonical SPDI:: NC_000011.10:32853340:T:A
Gene:: PRRG4 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32853341T>A, NC_000011.9:g.32874887T>A, NM_024081.6:c.495T>A, NM_024081.5:c.495T>A, XM_006718313.4:c.362T>A, XM_006718313.3:c.776T>A, XM_006718313.2:c.362T>A, XM_006718313.1:c.776T>A, XM_006718314.4:c.495T>A, XM_006718314.3:c.495T>A, XM_006718314.2:c.495T>A, XM_006718314.1:c.495T>A, XP_006718376.4:p.Phe121Tyr

Select item 142709886815.

rs1427098868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:32836736 (GRCh38)
11:32858282 (GRCh37)
Canonical SPDI:: NC_000011.10:32836735:C:T
Gene:: PRRG4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.32836736C>T, NC_000011.9:g.32858282C>T, NM_024081.6:c.182C>T, NM_024081.5:c.182C>T, XM_006718313.4:c.182C>T, XM_006718313.3:c.596C>T, XM_006718313.2:c.182C>T, XM_006718313.1:c.596C>T, XM_006718314.4:c.182C>T, XM_006718314.3:c.182C>T, XM_006718314.2:c.182C>T, XM_006718314.1:c.182C>T, NP_076986.1:p.Thr61Ile, XP_006718376.4:p.Thr61Ile, XP_006718377.1:p.Thr61Ile

Select item 141572702816.

rs1415727028 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:32853389 (GRCh38)
11:32874935 (GRCh37)
Canonical SPDI:: NC_000011.10:32853388:GG:G
Gene:: PRRG4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,stop_gained
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32853390del, NC_000011.9:g.32874936del, NM_024081.6:c.544del, NM_024081.5:c.544del, XM_006718313.4:c.411del, XM_006718313.3:c.825del, XM_006718313.2:c.411del, XM_006718313.1:c.825del, XM_006718314.4:c.544del, XM_006718314.3:c.544del, XM_006718314.2:c.544del, XM_006718314.1:c.544del, NP_076986.1:p.Glu182fs, XP_006718376.4:p.Leu136_Trp137insTer, XP_006718377.1:p.Glu182fs

Select item 141273784317.

rs1412737843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:32840166 (GRCh38)
11:32861712 (GRCh37)
Canonical SPDI:: NC_000011.10:32840165:G:A
Gene:: PRRG4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.32840166G>A, NC_000011.9:g.32861712G>A, NM_024081.6:c.376G>A, NM_024081.5:c.376G>A, XM_006718314.4:c.376G>A, XM_006718314.3:c.376G>A, XM_006718314.2:c.376G>A, XM_006718314.1:c.376G>A, NP_076986.1:p.Val126Ile, XP_006718377.1:p.Val126Ile

Select item 140921768518.

rs1409217685 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATTAAAATATAAATATATTT [Show Flanks]
Chromosome:: 11:32840186 (GRCh38)
11:32861733 (GRCh37)
Canonical SPDI:: NC_000011.10:32840186:TT:TTTATTAAAATATAAATATATTT
Gene:: PRRG4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant,inframe_indel
HGVS:: NC_000011.10:g.32840188_32840189insTATTAAAATATAAATATATTT, NC_000011.9:g.32861734_32861735insTATTAAAATATAAATATATTT, NM_024081.6:c.398_399insTATTAAAATATAAATATATTT, NM_024081.5:c.398_399insTATTAAAATATAAATATATTT, XM_006718314.4:c.398_399insTATTAAAATATAAATATATTT, XM_006718314.3:c.398_399insTATTAAAATATAAATATATTT, XM_006718314.2:c.398_399insTATTAAAATATAAATATATTT, XM_006718314.1:c.398_399insTATTAAAATATAAATATATTT, NP_076986.1:p.Leu133delinsPheIleLysIleTer, XP_006718377.1:p.Leu133delinsPheIleLysIleTer

Select item 139932967619.

rs1399329676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:32830624 (GRCh38)
11:32852170 (GRCh37)
Canonical SPDI:: NC_000011.10:32830623:G:A
Gene:: PRRG4 (Varview), CCDC73 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.32830624G>A, NC_000011.9:g.32852170G>A, NM_024081.6:c.95G>A, NM_024081.5:c.95G>A, XM_006718313.4:c.95G>A, XM_006718313.3:c.509G>A, XM_006718313.2:c.95G>A, XM_006718313.1:c.509G>A, XM_006718314.4:c.95G>A, XM_006718314.3:c.95G>A, XM_006718314.2:c.95G>A, XM_006718314.1:c.95G>A, NP_076986.1:p.Gly32Glu, XP_006718376.4:p.Gly32Glu, XP_006718377.1:p.Gly32Glu

Select item 139924364220.

rs1399243642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:32853463 (GRCh38)
11:32875009 (GRCh37)
Canonical SPDI:: NC_000011.10:32853462:C:T
Gene:: PRRG4 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.32853463C>T, NC_000011.9:g.32875009C>T, NM_024081.6:c.617C>T, NM_024081.5:c.617C>T, XM_006718313.4:c.*31C>T, XM_006718313.3:c.*31C>T, XM_006718313.2:c.*31C>T, XM_006718313.1:c.*31C>T, XM_006718314.4:c.617C>T, XM_006718314.3:c.617C>T, XM_006718314.2:c.617C>T, XM_006718314.1:c.617C>T, NP_076986.1:p.Pro206Leu, XP_006718377.1:p.Pro206Leu

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