SNP Links for Protein (Select 985482087) - SNP

Links from Protein

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Select item 14892514101.

rs1489251410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123485759 (GRCh38)
12:123970306 (GRCh37)
Canonical SPDI:: NC_000012.12:123485758:G:A
Gene:: RILPL1 (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=0.000008/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.123485759G>A, NC_000012.11:g.123970306G>A, NM_178314.5:c.848C>T, NM_178314.4:c.848C>T, NM_178314.3:c.848C>T, NM_001319302.2:c.395C>T, NM_001319302.1:c.395C>T, NM_001319243.2:c.848C>T, NM_001319243.1:c.848C>T, NM_001319244.2:c.395C>T, NM_001319244.1:c.395C>T, XM_047428787.1:c.848C>T, NP_847884.2:p.Ala283Val, NP_001306231.1:p.Ala132Val, NP_001306172.1:p.Ala283Val, NP_001306173.1:p.Ala132Val, XP_047284743.1:p.Ala283Val

Select item 14804848082.

rs1480484808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:123485771 (GRCh38)
12:123970318 (GRCh37)
Canonical SPDI:: NC_000012.12:123485770:G:C,NC_000012.12:123485770:G:T
Gene:: RILPL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123485771G>C, NC_000012.12:g.123485771G>T, NC_000012.11:g.123970318G>C, NC_000012.11:g.123970318G>T, NM_178314.5:c.836C>G, NM_178314.5:c.836C>A, NM_178314.4:c.836C>G, NM_178314.4:c.836C>A, NM_178314.3:c.836C>G, NM_178314.3:c.836C>A, NM_001319302.2:c.383C>G, NM_001319302.2:c.383C>A, NM_001319302.1:c.383C>G, NM_001319302.1:c.383C>A, NM_001319243.2:c.836C>G, NM_001319243.2:c.836C>A, NM_001319243.1:c.836C>G, NM_001319243.1:c.836C>A, NM_001319244.2:c.383C>G, NM_001319244.2:c.383C>A, NM_001319244.1:c.383C>G, NM_001319244.1:c.383C>A, XM_047428787.1:c.836C>G, XM_047428787.1:c.836C>A, NP_847884.2:p.Ala279Gly, NP_847884.2:p.Ala279Glu, NP_001306231.1:p.Ala128Gly, NP_001306231.1:p.Ala128Glu, NP_001306172.1:p.Ala279Gly, NP_001306172.1:p.Ala279Glu, NP_001306173.1:p.Ala128Gly, NP_001306173.1:p.Ala128Glu, XP_047284743.1:p.Ala279Gly, XP_047284743.1:p.Ala279Glu

Select item 14760833663.

rs1476083366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:123485695 (GRCh38)
12:123970242 (GRCh37)
Canonical SPDI:: NC_000012.12:123485694:G:A,NC_000012.12:123485694:G:T
Gene:: RILPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.123485695G>A, NC_000012.12:g.123485695G>T, NC_000012.11:g.123970242G>A, NC_000012.11:g.123970242G>T, NM_178314.5:c.912C>T, NM_178314.5:c.912C>A, NM_178314.4:c.912C>T, NM_178314.4:c.912C>A, NM_178314.3:c.912C>T, NM_178314.3:c.912C>A, NM_001319302.2:c.459C>T, NM_001319302.2:c.459C>A, NM_001319302.1:c.459C>T, NM_001319302.1:c.459C>A, NM_001319243.2:c.912C>T, NM_001319243.2:c.912C>A, NM_001319243.1:c.912C>T, NM_001319243.1:c.912C>A, NM_001319244.2:c.459C>T, NM_001319244.2:c.459C>A, NM_001319244.1:c.459C>T, NM_001319244.1:c.459C>A, XM_047428787.1:c.912C>T, XM_047428787.1:c.912C>A, NP_847884.2:p.His304Gln, NP_001306231.1:p.His153Gln, NP_001306172.1:p.His304Gln, NP_001306173.1:p.His153Gln, XP_047284743.1:p.His304Gln

Select item 14737021704.

rs1473702170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:123498558 (GRCh38)
12:123983105 (GRCh37)
Canonical SPDI:: NC_000012.12:123498557:C:A
Gene:: RILPL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.123498558C>A, NC_000012.11:g.123983105C>A, NM_178314.5:c.787G>T, NM_178314.4:c.787G>T, NM_178314.3:c.787G>T, NM_001319302.2:c.334G>T, NM_001319302.1:c.334G>T, NM_001319243.2:c.787G>T, NM_001319243.1:c.787G>T, NM_001319244.2:c.334G>T, NM_001319244.1:c.334G>T, XM_047428787.1:c.787G>T, NP_847884.2:p.Glu263Ter, NP_001306231.1:p.Glu112Ter, NP_001306172.1:p.Glu263Ter, NP_001306173.1:p.Glu112Ter, XP_047284743.1:p.Glu263Ter

Select item 14714147315.

rs1471414731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:123472620 (GRCh38)
12:123957167 (GRCh37)
Canonical SPDI:: NC_000012.12:123472619:T:C,NC_000012.12:123472619:T:G
Gene:: SNRNP35 (Varview), RILPL1 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.123472620T>C, NC_000012.12:g.123472620T>G, NC_000012.11:g.123957167T>C, NC_000012.11:g.123957167T>G, NM_178314.5:c.1130A>G, NM_178314.5:c.1130A>C, NM_178314.4:c.1130A>G, NM_178314.4:c.1130A>C, NM_178314.3:c.1130A>G, NM_178314.3:c.1130A>C, NM_001319302.2:c.677A>G, NM_001319302.2:c.677A>C, NM_001319302.1:c.677A>G, NM_001319302.1:c.677A>C, NM_001319243.2:c.*57A>G, NM_001319243.2:c.*57A>C, NM_001319243.1:c.*57A>G, NM_001319243.1:c.*57A>C, NM_001319244.2:c.677A>G, NM_001319244.2:c.677A>C, NM_001319244.1:c.677A>G, NM_001319244.1:c.677A>C, NR_104103.2:n.1607T>C, NR_104103.2:n.1607T>G, NP_847884.2:p.Gln377Arg, NP_847884.2:p.Gln377Pro, NP_001306231.1:p.Gln226Arg, NP_001306231.1:p.Gln226Pro, NP_001306173.1:p.Gln226Arg, NP_001306173.1:p.Gln226Pro

Select item 14698770876.

rs1469877087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:123472672 (GRCh38)
12:123957219 (GRCh37)
Canonical SPDI:: NC_000012.12:123472671:A:G
Gene:: SNRNP35 (Varview), RILPL1 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.123472672A>G, NC_000012.11:g.123957219A>G, NM_178314.5:c.1078T>C, NM_178314.4:c.1078T>C, NM_178314.3:c.1078T>C, NM_001319302.2:c.625T>C, NM_001319302.1:c.625T>C, NM_001319243.2:c.*5T>C, NM_001319243.1:c.*5T>C, NM_001319244.2:c.625T>C, NM_001319244.1:c.625T>C, NR_104103.2:n.1659A>G, NP_847884.2:p.Phe360Leu, NP_001306231.1:p.Phe209Leu, NP_001306173.1:p.Phe209Leu

Select item 14625644907.

rs1462564490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:123498618 (GRCh38)
12:123983165 (GRCh37)
Canonical SPDI:: NC_000012.12:123498617:G:C
Gene:: RILPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123498618G>C, NC_000012.11:g.123983165G>C, NM_178314.5:c.727C>G, NM_178314.4:c.727C>G, NM_178314.3:c.727C>G, NM_001319302.2:c.274C>G, NM_001319302.1:c.274C>G, NM_001319243.2:c.727C>G, NM_001319243.1:c.727C>G, NM_001319244.2:c.274C>G, NM_001319244.1:c.274C>G, XM_047428787.1:c.727C>G, NP_847884.2:p.Leu243Val, NP_001306231.1:p.Leu92Val, NP_001306172.1:p.Leu243Val, NP_001306173.1:p.Leu92Val, XP_047284743.1:p.Leu243Val

Select item 14624145978.

rs1462414597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123484193 (GRCh38)
12:123968740 (GRCh37)
Canonical SPDI:: NC_000012.12:123484192:C:T
Gene:: RILPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
HGVS:: NC_000012.12:g.123484193C>T, NC_000012.11:g.123968740C>T, NM_178314.5:c.1054G>A, NM_178314.4:c.1054G>A, NM_178314.3:c.1054G>A, NM_001319302.2:c.601G>A, NM_001319302.1:c.601G>A, NM_001319243.2:c.1054G>A, NM_001319243.1:c.1054G>A, NM_001319244.2:c.601G>A, NM_001319244.1:c.601G>A, XM_047428787.1:c.1054G>A, NP_847884.2:p.Gly352Ser, NP_001306231.1:p.Gly201Ser, NP_001306172.1:p.Gly352Ser, NP_001306173.1:p.Gly201Ser, XP_047284743.1:p.Gly352Ser

Select item 14619682649.

rs1461968264 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:123485680 (GRCh38)
12:123970227 (GRCh37)
Canonical SPDI:: NC_000012.12:123485679:G:
Gene:: RILPL1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123485680del, NC_000012.11:g.123970227del, NM_178314.5:c.927del, NM_178314.4:c.927del, NM_178314.3:c.927del, NM_001319302.2:c.474del, NM_001319302.1:c.474del, NM_001319243.2:c.927del, NM_001319243.1:c.927del, NM_001319244.2:c.474del, NM_001319244.1:c.474del, XM_047428787.1:c.927del, NP_847884.2:p.Lys310fs, NP_001306231.1:p.Lys159fs, NP_001306172.1:p.Lys310fs, NP_001306173.1:p.Lys159fs, XP_047284743.1:p.Lys310fs

Select item 145590959110.

rs1455909591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123484210 (GRCh38)
12:123968757 (GRCh37)
Canonical SPDI:: NC_000012.12:123484209:G:A
Gene:: RILPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123484210G>A, NC_000012.11:g.123968757G>A, NM_178314.5:c.1037C>T, NM_178314.4:c.1037C>T, NM_178314.3:c.1037C>T, NM_001319302.2:c.584C>T, NM_001319302.1:c.584C>T, NM_001319243.2:c.1037C>T, NM_001319243.1:c.1037C>T, NM_001319244.2:c.584C>T, NM_001319244.1:c.584C>T, XM_047428787.1:c.1037C>T, NP_847884.2:p.Ser346Phe, NP_001306231.1:p.Ser195Phe, NP_001306172.1:p.Ser346Phe, NP_001306173.1:p.Ser195Phe, XP_047284743.1:p.Ser346Phe

Select item 145015710311.

rs1450157103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123498631 (GRCh38)
12:123983178 (GRCh37)
Canonical SPDI:: NC_000012.12:123498630:C:T
Gene:: RILPL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123498631C>T, NC_000012.11:g.123983178C>T, NM_178314.5:c.714G>A, NM_178314.4:c.714G>A, NM_178314.3:c.714G>A, NM_001319302.2:c.261G>A, NM_001319302.1:c.261G>A, NM_001319243.2:c.714G>A, NM_001319243.1:c.714G>A, NM_001319244.2:c.261G>A, NM_001319244.1:c.261G>A, XM_047428787.1:c.714G>A

Select item 144103403112.

rs1441034031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:123485650 (GRCh38)
12:123970197 (GRCh37)
Canonical SPDI:: NC_000012.12:123485649:C:G
Gene:: RILPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.123485650C>G, NC_000012.11:g.123970197C>G, NM_178314.5:c.957G>C, NM_178314.4:c.957G>C, NM_178314.3:c.957G>C, NM_001319302.2:c.504G>C, NM_001319302.1:c.504G>C, NM_001319243.2:c.957G>C, NM_001319243.1:c.957G>C, NM_001319244.2:c.504G>C, NM_001319244.1:c.504G>C, XM_047428787.1:c.957G>C, NP_847884.2:p.Glu319Asp, NP_001306231.1:p.Glu168Asp, NP_001306172.1:p.Glu319Asp, NP_001306173.1:p.Glu168Asp, XP_047284743.1:p.Glu319Asp

Select item 143617065213.

rs1436170652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:123499466 (GRCh38)
12:123984013 (GRCh37)
Canonical SPDI:: NC_000012.12:123499465:G:C
Gene:: RILPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000012.12:g.123499466G>C, NC_000012.11:g.123984013G>C, NM_178314.5:c.531C>G, NM_178314.4:c.531C>G, NM_178314.3:c.531C>G, NM_001319302.2:c.78C>G, NM_001319302.1:c.78C>G, NM_001319243.2:c.531C>G, NM_001319243.1:c.531C>G, NM_001319244.2:c.78C>G, NM_001319244.1:c.78C>G, XM_047428787.1:c.531C>G, NP_847884.2:p.Ile177Met, NP_001306231.1:p.Ile26Met, NP_001306172.1:p.Ile177Met, NP_001306173.1:p.Ile26Met, XP_047284743.1:p.Ile177Met

Select item 142914906514.

rs1429149065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123498699 (GRCh38)
12:123983246 (GRCh37)
Canonical SPDI:: NC_000012.12:123498698:C:T
Gene:: RILPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.123498699C>T, NC_000012.11:g.123983246C>T, NM_178314.5:c.646G>A, NM_178314.4:c.646G>A, NM_178314.3:c.646G>A, NM_001319302.2:c.193G>A, NM_001319302.1:c.193G>A, NM_001319243.2:c.646G>A, NM_001319243.1:c.646G>A, NM_001319244.2:c.193G>A, NM_001319244.1:c.193G>A, XM_047428787.1:c.646G>A, NP_847884.2:p.Glu216Lys, NP_001306231.1:p.Glu65Lys, NP_001306172.1:p.Glu216Lys, NP_001306173.1:p.Glu65Lys, XP_047284743.1:p.Glu216Lys

Select item 142372337115.

rs1423723371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123484200 (GRCh38)
12:123968747 (GRCh37)
Canonical SPDI:: NC_000012.12:123484199:C:T
Gene:: RILPL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000342/1 (KOREAN)
T=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.123484200C>T, NC_000012.11:g.123968747C>T, NM_178314.5:c.1047G>A, NM_178314.4:c.1047G>A, NM_178314.3:c.1047G>A, NM_001319302.2:c.594G>A, NM_001319302.1:c.594G>A, NM_001319243.2:c.1047G>A, NM_001319243.1:c.1047G>A, NM_001319244.2:c.594G>A, NM_001319244.1:c.594G>A, XM_047428787.1:c.1047G>A

Select item 142336220816.

rs1423362208 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:123485786 (GRCh38)
12:123970333 (GRCh37)
Canonical SPDI:: NC_000012.12:123485785:T:C,NC_000012.12:123485785:T:G
Gene:: RILPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000012.12:g.123485786T>C, NC_000012.12:g.123485786T>G, NC_000012.11:g.123970333T>C, NC_000012.11:g.123970333T>G, NM_178314.5:c.821A>G, NM_178314.5:c.821A>C, NM_178314.4:c.821A>G, NM_178314.4:c.821A>C, NM_178314.3:c.821A>G, NM_178314.3:c.821A>C, NM_001319302.2:c.368A>G, NM_001319302.2:c.368A>C, NM_001319302.1:c.368A>G, NM_001319302.1:c.368A>C, NM_001319243.2:c.821A>G, NM_001319243.2:c.821A>C, NM_001319243.1:c.821A>G, NM_001319243.1:c.821A>C, NM_001319244.2:c.368A>G, NM_001319244.2:c.368A>C, NM_001319244.1:c.368A>G, NM_001319244.1:c.368A>C, XM_047428787.1:c.821A>G, XM_047428787.1:c.821A>C, NP_847884.2:p.Glu274Gly, NP_847884.2:p.Glu274Ala, NP_001306231.1:p.Glu123Gly, NP_001306231.1:p.Glu123Ala, NP_001306172.1:p.Glu274Gly, NP_001306172.1:p.Glu274Ala, NP_001306173.1:p.Glu123Gly, NP_001306173.1:p.Glu123Ala, XP_047284743.1:p.Glu274Gly, XP_047284743.1:p.Glu274Ala

Select item 141424580117.

rs1414245801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:123498677 (GRCh38)
12:123983224 (GRCh37)
Canonical SPDI:: NC_000012.12:123498676:A:G
Gene:: RILPL1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.123498677A>G, NC_000012.11:g.123983224A>G, NM_178314.5:c.668T>C, NM_178314.4:c.668T>C, NM_178314.3:c.668T>C, NM_001319302.2:c.215T>C, NM_001319302.1:c.215T>C, NM_001319243.2:c.668T>C, NM_001319243.1:c.668T>C, NM_001319244.2:c.215T>C, NM_001319244.1:c.215T>C, XM_047428787.1:c.668T>C, NP_847884.2:p.Ile223Thr, NP_001306231.1:p.Ile72Thr, NP_001306172.1:p.Ile223Thr, NP_001306173.1:p.Ile72Thr, XP_047284743.1:p.Ile223Thr

Select item 141141198118.

rs1411411981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:123498567 (GRCh38)
12:123983114 (GRCh37)
Canonical SPDI:: NC_000012.12:123498566:G:C
Gene:: RILPL1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.123498567G>C, NC_000012.11:g.123983114G>C, NM_178314.5:c.778C>G, NM_178314.4:c.778C>G, NM_178314.3:c.778C>G, NM_001319302.2:c.325C>G, NM_001319302.1:c.325C>G, NM_001319243.2:c.778C>G, NM_001319243.1:c.778C>G, NM_001319244.2:c.325C>G, NM_001319244.1:c.325C>G, XM_047428787.1:c.778C>G, NP_847884.2:p.Gln260Glu, NP_001306231.1:p.Gln109Glu, NP_001306172.1:p.Gln260Glu, NP_001306173.1:p.Gln109Glu, XP_047284743.1:p.Gln260Glu

Select item 140943067919.

rs1409430679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:123472562 (GRCh38)
12:123957109 (GRCh37)
Canonical SPDI:: NC_000012.12:123472561:T:C
Gene:: SNRNP35 (Varview), RILPL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_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_000012.12:g.123472562T>C, NC_000012.11:g.123957109T>C, NM_178314.5:c.1188A>G, NM_178314.4:c.1188A>G, NM_178314.3:c.1188A>G, NM_001319302.2:c.735A>G, NM_001319302.1:c.735A>G, NM_001319243.2:c.*115A>G, NM_001319243.1:c.*115A>G, NM_001319244.2:c.735A>G, NM_001319244.1:c.735A>G, NR_104103.2:n.1549T>C

Select item 140774378020.

rs1407743780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123499511 (GRCh38)
12:123984058 (GRCh37)
Canonical SPDI:: NC_000012.12:123499510:C:T
Gene:: RILPL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000223/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123499511C>T, NC_000012.11:g.123984058C>T, NM_178314.5:c.486G>A, NM_178314.4:c.486G>A, NM_178314.3:c.486G>A, NM_001319302.2:c.33G>A, NM_001319302.1:c.33G>A, NM_001319243.2:c.486G>A, NM_001319243.1:c.486G>A, NM_001319244.2:c.33G>A, NM_001319244.1:c.33G>A, XM_047428787.1:c.486G>A

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