SNP Links for Protein (Select 530368597) - SNP

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Links from Protein

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Select item 14866546421.

rs1486654642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:101308191 (GRCh38)
2:101924653 (GRCh37)
Canonical SPDI:: NC_000002.12:101308190:G:A
Gene:: RNF149 (Varview), MIR5696 (Varview), LOC105373512 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.101308191G>A, NC_000002.11:g.101924653G>A, XM_005263921.5:c.398C>T, XM_005263921.4:c.398C>T, XM_005263921.3:c.398C>T, XM_005263921.2:c.398C>T, XM_005263921.1:c.398C>T, XM_005263920.4:c.398C>T, XM_005263920.3:c.398C>T, XM_005263920.2:c.398C>T, XM_005263920.1:c.398C>T, NM_173647.4:c.398C>T, NM_173647.3:c.398C>T, XR_922909.4:n.511C>T, XR_922909.3:n.500C>T, XR_922909.2:n.526C>T, XR_922909.1:n.526C>T, XR_001738712.3:n.511C>T, XR_001738712.2:n.500C>T, XR_001738712.1:n.526C>T, XR_922908.3:n.511C>T, XR_922908.2:n.500C>T, XR_922908.1:n.526C>T, XM_024452811.2:c.398C>T, XM_024452811.1:c.398C>T, XM_047443979.1:c.398C>T, XP_005263978.1:p.Ser133Leu, XP_005263977.1:p.Ser133Leu, NP_775918.2:p.Ser133Leu, XP_024308579.1:p.Ser133Leu, XP_047299935.1:p.Ser133Leu

Select item 14856600152.

rs1485660015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:101308409 (GRCh38)
2:101924871 (GRCh37)
Canonical SPDI:: NC_000002.12:101308408:C:A
Gene:: RNF149 (Varview), MIR5696 (Varview), LOC105373512 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.101308409C>A, NC_000002.11:g.101924871C>A, XM_005263921.5:c.180G>T, XM_005263921.4:c.180G>T, XM_005263921.3:c.180G>T, XM_005263921.2:c.180G>T, XM_005263921.1:c.180G>T, XM_005263920.4:c.180G>T, XM_005263920.3:c.180G>T, XM_005263920.2:c.180G>T, XM_005263920.1:c.180G>T, NM_173647.4:c.180G>T, NM_173647.3:c.180G>T, XR_922909.4:n.293G>T, XR_922909.3:n.282G>T, XR_922909.2:n.308G>T, XR_922909.1:n.308G>T, XR_001738712.3:n.293G>T, XR_001738712.2:n.282G>T, XR_001738712.1:n.308G>T, XR_922908.3:n.293G>T, XR_922908.2:n.282G>T, XR_922908.1:n.308G>T, XM_024452811.2:c.180G>T, XM_024452811.1:c.180G>T, XM_047443979.1:c.180G>T, XP_005263978.1:p.Glu60Asp, XP_005263977.1:p.Glu60Asp, NP_775918.2:p.Glu60Asp, XP_024308579.1:p.Glu60Asp, XP_047299935.1:p.Glu60Asp

Select item 14851813223.

rs1485181322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:101308580 (GRCh38)
2:101925042 (GRCh37)
Canonical SPDI:: NC_000002.12:101308579:C:T
Gene:: RNF149 (Varview), MIR5696 (Varview), LOC105373512 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.101308580C>T, NC_000002.11:g.101925042C>T, XM_005263921.5:c.9G>A, XM_005263921.4:c.9G>A, XM_005263921.3:c.9G>A, XM_005263921.2:c.9G>A, XM_005263921.1:c.9G>A, XM_005263920.4:c.9G>A, XM_005263920.3:c.9G>A, XM_005263920.2:c.9G>A, XM_005263920.1:c.9G>A, NM_173647.4:c.9G>A, NM_173647.3:c.9G>A, XR_922909.4:n.122G>A, XR_922909.3:n.111G>A, XR_922909.2:n.137G>A, XR_922909.1:n.137G>A, XR_001738712.3:n.122G>A, XR_001738712.2:n.111G>A, XR_001738712.1:n.137G>A, XR_922908.3:n.122G>A, XR_922908.2:n.111G>A, XR_922908.1:n.137G>A, XM_024452811.2:c.9G>A, XM_024452811.1:c.9G>A, XM_047443979.1:c.9G>A, XP_005263978.1:p.Trp3Ter, XP_005263977.1:p.Trp3Ter, NP_775918.2:p.Trp3Ter, XP_024308579.1:p.Trp3Ter, XP_047299935.1:p.Trp3Ter

Select item 14843323524.

rs1484332352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:101295010 (GRCh38)
2:101911472 (GRCh37)
Canonical SPDI:: NC_000002.12:101295009:A:G
Gene:: RNF149 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_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_000002.12:g.101295010A>G, NC_000002.11:g.101911472A>G, XM_005263921.5:c.632T>C, XM_005263921.4:c.632T>C, XM_005263921.3:c.632T>C, XM_005263921.2:c.632T>C, XM_005263921.1:c.632T>C, XM_005263920.4:c.632T>C, XM_005263920.3:c.632T>C, XM_005263920.2:c.632T>C, XM_005263920.1:c.632T>C, NM_173647.4:c.632T>C, NM_173647.3:c.632T>C, XR_001738712.3:n.745T>C, XR_001738712.2:n.734T>C, XR_001738712.1:n.760T>C, XR_922908.3:n.745T>C, XR_922908.2:n.734T>C, XR_922908.1:n.760T>C, XM_024452811.2:c.632T>C, XM_024452811.1:c.632T>C, XM_047443979.1:c.632T>C, XP_005263978.1:p.Met211Thr, XP_005263977.1:p.Met211Thr, NP_775918.2:p.Met211Thr, XP_024308579.1:p.Met211Thr, XP_047299935.1:p.Met211Thr

Select item 14835847835.

rs1483584783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:101308272 (GRCh38)
2:101924734 (GRCh37)
Canonical SPDI:: NC_000002.12:101308271:G:A
Gene:: RNF149 (Varview), MIR5696 (Varview), LOC105373512 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.101308272G>A, NC_000002.11:g.101924734G>A, XM_005263921.5:c.317C>T, XM_005263921.4:c.317C>T, XM_005263921.3:c.317C>T, XM_005263921.2:c.317C>T, XM_005263921.1:c.317C>T, XM_005263920.4:c.317C>T, XM_005263920.3:c.317C>T, XM_005263920.2:c.317C>T, XM_005263920.1:c.317C>T, NM_173647.4:c.317C>T, NM_173647.3:c.317C>T, XR_922909.4:n.430C>T, XR_922909.3:n.419C>T, XR_922909.2:n.445C>T, XR_922909.1:n.445C>T, XR_001738712.3:n.430C>T, XR_001738712.2:n.419C>T, XR_001738712.1:n.445C>T, XR_922908.3:n.430C>T, XR_922908.2:n.419C>T, XR_922908.1:n.445C>T, XM_024452811.2:c.317C>T, XM_024452811.1:c.317C>T, XM_047443979.1:c.317C>T, XP_005263978.1:p.Ala106Val, XP_005263977.1:p.Ala106Val, NP_775918.2:p.Ala106Val, XP_024308579.1:p.Ala106Val, XP_047299935.1:p.Ala106Val

Select item 14832205216.

rs1483220521 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:101308585 (GRCh38)
2:101925047 (GRCh37)
Canonical SPDI:: NC_000002.12:101308584:C:T
Gene:: RNF149 (Varview), MIR5696 (Varview), LOC105373512 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000002.12:g.101308585C>T, NC_000002.11:g.101925047C>T, XM_005263921.5:c.4G>A, XM_005263921.4:c.4G>A, XM_005263921.3:c.4G>A, XM_005263921.2:c.4G>A, XM_005263921.1:c.4G>A, XM_005263920.4:c.4G>A, XM_005263920.3:c.4G>A, XM_005263920.2:c.4G>A, XM_005263920.1:c.4G>A, NM_173647.4:c.4G>A, NM_173647.3:c.4G>A, XR_922909.4:n.117G>A, XR_922909.3:n.106G>A, XR_922909.2:n.132G>A, XR_922909.1:n.132G>A, XR_001738712.3:n.117G>A, XR_001738712.2:n.106G>A, XR_001738712.1:n.132G>A, XR_922908.3:n.117G>A, XR_922908.2:n.106G>A, XR_922908.1:n.132G>A, XM_024452811.2:c.4G>A, XM_024452811.1:c.4G>A, XM_047443979.1:c.4G>A, XP_005263978.1:p.Ala2Thr, XP_005263977.1:p.Ala2Thr, NP_775918.2:p.Ala2Thr, XP_024308579.1:p.Ala2Thr, XP_047299935.1:p.Ala2Thr

Select item 14824156057.

rs1482415605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:101308305 (GRCh38)
2:101924767 (GRCh37)
Canonical SPDI:: NC_000002.12:101308304:C:A
Gene:: RNF149 (Varview), MIR5696 (Varview), LOC105373512 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.101308305C>A, NC_000002.11:g.101924767C>A, XM_005263921.5:c.284G>T, XM_005263921.4:c.284G>T, XM_005263921.3:c.284G>T, XM_005263921.2:c.284G>T, XM_005263921.1:c.284G>T, XM_005263920.4:c.284G>T, XM_005263920.3:c.284G>T, XM_005263920.2:c.284G>T, XM_005263920.1:c.284G>T, NM_173647.4:c.284G>T, NM_173647.3:c.284G>T, XR_922909.4:n.397G>T, XR_922909.3:n.386G>T, XR_922909.2:n.412G>T, XR_922909.1:n.412G>T, XR_001738712.3:n.397G>T, XR_001738712.2:n.386G>T, XR_001738712.1:n.412G>T, XR_922908.3:n.397G>T, XR_922908.2:n.386G>T, XR_922908.1:n.412G>T, XM_024452811.2:c.284G>T, XM_024452811.1:c.284G>T, XM_047443979.1:c.284G>T, XP_005263978.1:p.Arg95Leu, XP_005263977.1:p.Arg95Leu, NP_775918.2:p.Arg95Leu, XP_024308579.1:p.Arg95Leu, XP_047299935.1:p.Arg95Leu

Select item 14809432458.

rs1480943245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:101308180 (GRCh38)
2:101924642 (GRCh37)
Canonical SPDI:: NC_000002.12:101308179:G:A,NC_000002.12:101308179:G:T
Gene:: RNF149 (Varview), MIR5696 (Varview), LOC105373512 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.101308180G>A, NC_000002.12:g.101308180G>T, NC_000002.11:g.101924642G>A, NC_000002.11:g.101924642G>T, XM_005263921.5:c.409C>T, XM_005263921.5:c.409C>A, XM_005263921.4:c.409C>T, XM_005263921.4:c.409C>A, XM_005263921.3:c.409C>T, XM_005263921.3:c.409C>A, XM_005263921.2:c.409C>T, XM_005263921.2:c.409C>A, XM_005263921.1:c.409C>T, XM_005263921.1:c.409C>A, XM_005263920.4:c.409C>T, XM_005263920.4:c.409C>A, XM_005263920.3:c.409C>T, XM_005263920.3:c.409C>A, XM_005263920.2:c.409C>T, XM_005263920.2:c.409C>A, XM_005263920.1:c.409C>T, XM_005263920.1:c.409C>A, NM_173647.4:c.409C>T, NM_173647.4:c.409C>A, NM_173647.3:c.409C>T, NM_173647.3:c.409C>A, XR_922909.4:n.522C>T, XR_922909.4:n.522C>A, XR_922909.3:n.511C>T, XR_922909.3:n.511C>A, XR_922909.2:n.537C>T, XR_922909.2:n.537C>A, XR_922909.1:n.537C>T, XR_922909.1:n.537C>A, XR_001738712.3:n.522C>T, XR_001738712.3:n.522C>A, XR_001738712.2:n.511C>T, XR_001738712.2:n.511C>A, XR_001738712.1:n.537C>T, XR_001738712.1:n.537C>A, XR_922908.3:n.522C>T, XR_922908.3:n.522C>A, XR_922908.2:n.511C>T, XR_922908.2:n.511C>A, XR_922908.1:n.537C>T, XR_922908.1:n.537C>A, XM_024452811.2:c.409C>T, XM_024452811.2:c.409C>A, XM_024452811.1:c.409C>T, XM_024452811.1:c.409C>A, XM_047443979.1:c.409C>T, XM_047443979.1:c.409C>A, XP_005263978.1:p.Leu137Phe, XP_005263978.1:p.Leu137Ile, XP_005263977.1:p.Leu137Phe, XP_005263977.1:p.Leu137Ile, NP_775918.2:p.Leu137Phe, NP_775918.2:p.Leu137Ile, XP_024308579.1:p.Leu137Phe, XP_024308579.1:p.Leu137Ile, XP_047299935.1:p.Leu137Phe, XP_047299935.1:p.Leu137Ile

Select item 14805980679.

rs1480598067 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:101288998 (GRCh38)
2:101905460 (GRCh37)
Canonical SPDI:: NC_000002.12:101288997:CC:C
Gene:: RNF149 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.101288999del, NC_000002.11:g.101905461del, XM_005263921.5:c.838del, XM_005263921.4:c.838del, XM_005263921.3:c.838del, XM_005263921.2:c.838del, XM_005263921.1:c.838del, XM_005263920.4:c.838del, XM_005263920.3:c.838del, XM_005263920.2:c.838del, XM_005263920.1:c.838del, NM_173647.4:c.838del, NM_173647.3:c.838del, XR_001738712.3:n.951del, XR_001738712.2:n.940del, XR_001738712.1:n.966del, XR_922908.3:n.951del, XR_922908.2:n.940del, XR_922908.1:n.966del, XM_024452811.2:c.838del, XM_024452811.1:c.838del, XM_047443979.1:c.838del, XP_005263978.1:p.Asp280fs, XP_005263977.1:p.Asp280fs, NP_775918.2:p.Asp280fs, XP_024308579.1:p.Asp280fs, XP_047299935.1:p.Asp280fs

Select item 147860479110.

rs1478604791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:101281864 (GRCh38)
2:101898326 (GRCh37)
Canonical SPDI:: NC_000002.12:101281863:A:G
Gene:: RNF149 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_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_000002.12:g.101281864A>G, NC_000002.11:g.101898326A>G, XM_005263921.5:c.1154T>C, XM_005263921.4:c.1154T>C, XM_005263921.3:c.1154T>C, XM_005263921.2:c.1154T>C, XM_005263921.1:c.1154T>C, XM_005263920.4:c.1154T>C, XM_005263920.3:c.1154T>C, XM_005263920.2:c.1154T>C, XM_005263920.1:c.1154T>C, NM_173647.4:c.1154T>C, NM_173647.3:c.1154T>C, XR_001738712.3:n.1267T>C, XR_001738712.2:n.1256T>C, XR_001738712.1:n.1282T>C, XR_922908.3:n.1267T>C, XR_922908.2:n.1256T>C, XR_922908.1:n.1282T>C, XM_024452811.2:c.1154T>C, XM_024452811.1:c.1154T>C, XM_047443979.1:c.*121T>C, XP_005263978.1:p.Leu385Ser, XP_005263977.1:p.Leu385Ser, NP_775918.2:p.Leu385Ser, XP_024308579.1:p.Leu385Ser

Select item 147827196411.

rs1478271964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:101286096 (GRCh38)
2:101902558 (GRCh37)
Canonical SPDI:: NC_000002.12:101286095:T:G
Gene:: RNF149 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000002.12:g.101286096T>G, NC_000002.11:g.101902558T>G, XM_005263921.5:c.945A>C, XM_005263921.4:c.945A>C, XM_005263921.3:c.945A>C, XM_005263921.2:c.945A>C, XM_005263921.1:c.945A>C, XM_005263920.4:c.945A>C, XM_005263920.3:c.945A>C, XM_005263920.2:c.945A>C, XM_005263920.1:c.945A>C, NM_173647.4:c.945A>C, NM_173647.3:c.945A>C, XR_001738712.3:n.1058A>C, XR_001738712.2:n.1047A>C, XR_001738712.1:n.1073A>C, XR_922908.3:n.1058A>C, XR_922908.2:n.1047A>C, XR_922908.1:n.1073A>C, XM_024452811.2:c.945A>C, XM_024452811.1:c.945A>C, XP_005263978.1:p.Lys315Asn, XP_005263977.1:p.Lys315Asn, NP_775918.2:p.Lys315Asn, XP_024308579.1:p.Lys315Asn

Select item 147613892912.

rs1476138929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:101308288 (GRCh38)
2:101924750 (GRCh37)
Canonical SPDI:: NC_000002.12:101308287:G:C,NC_000002.12:101308287:G:T
Gene:: RNF149 (Varview), MIR5696 (Varview), LOC105373512 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.101308288G>C, NC_000002.12:g.101308288G>T, NC_000002.11:g.101924750G>C, NC_000002.11:g.101924750G>T, XM_005263921.5:c.301C>G, XM_005263921.5:c.301C>A, XM_005263921.4:c.301C>G, XM_005263921.4:c.301C>A, XM_005263921.3:c.301C>G, XM_005263921.3:c.301C>A, XM_005263921.2:c.301C>G, XM_005263921.2:c.301C>A, XM_005263921.1:c.301C>G, XM_005263921.1:c.301C>A, XM_005263920.4:c.301C>G, XM_005263920.4:c.301C>A, XM_005263920.3:c.301C>G, XM_005263920.3:c.301C>A, XM_005263920.2:c.301C>G, XM_005263920.2:c.301C>A, XM_005263920.1:c.301C>G, XM_005263920.1:c.301C>A, NM_173647.4:c.301C>G, NM_173647.4:c.301C>A, NM_173647.3:c.301C>G, NM_173647.3:c.301C>A, XR_922909.4:n.414C>G, XR_922909.4:n.414C>A, XR_922909.3:n.403C>G, XR_922909.3:n.403C>A, XR_922909.2:n.429C>G, XR_922909.2:n.429C>A, XR_922909.1:n.429C>G, XR_922909.1:n.429C>A, XR_001738712.3:n.414C>G, XR_001738712.3:n.414C>A, XR_001738712.2:n.403C>G, XR_001738712.2:n.403C>A, XR_001738712.1:n.429C>G, XR_001738712.1:n.429C>A, XR_922908.3:n.414C>G, XR_922908.3:n.414C>A, XR_922908.2:n.403C>G, XR_922908.2:n.403C>A, XR_922908.1:n.429C>G, XR_922908.1:n.429C>A, XM_024452811.2:c.301C>G, XM_024452811.2:c.301C>A, XM_024452811.1:c.301C>G, XM_024452811.1:c.301C>A, XM_047443979.1:c.301C>G, XM_047443979.1:c.301C>A, XP_005263978.1:p.Pro101Ala, XP_005263978.1:p.Pro101Thr, XP_005263977.1:p.Pro101Ala, XP_005263977.1:p.Pro101Thr, NP_775918.2:p.Pro101Ala, NP_775918.2:p.Pro101Thr, XP_024308579.1:p.Pro101Ala, XP_024308579.1:p.Pro101Thr, XP_047299935.1:p.Pro101Ala, XP_047299935.1:p.Pro101Thr

Select item 147280634613.

rs1472806346 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:101295099 (GRCh38)
2:101911561 (GRCh37)
Canonical SPDI:: NC_000002.12:101295098:T:A
Gene:: RNF149 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.101295099T>A, NC_000002.11:g.101911561T>A, XM_005263921.5:c.543A>T, XM_005263921.4:c.543A>T, XM_005263921.3:c.543A>T, XM_005263921.2:c.543A>T, XM_005263921.1:c.543A>T, XM_005263920.4:c.543A>T, XM_005263920.3:c.543A>T, XM_005263920.2:c.543A>T, XM_005263920.1:c.543A>T, NM_173647.4:c.543A>T, NM_173647.3:c.543A>T, XR_922909.4:n.656A>T, XR_922909.3:n.645A>T, XR_922909.2:n.671A>T, XR_922909.1:n.671A>T, XR_001738712.3:n.656A>T, XR_001738712.2:n.645A>T, XR_001738712.1:n.671A>T, XR_922908.3:n.656A>T, XR_922908.2:n.645A>T, XR_922908.1:n.671A>T, XM_024452811.2:c.543A>T, XM_024452811.1:c.543A>T, XM_047443979.1:c.543A>T

Select item 147135305414.

rs1471353054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:101294064 (GRCh38)
2:101910526 (GRCh37)
Canonical SPDI:: NC_000002.12:101294063:T:C
Gene:: RNF149 (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=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.101294064T>C, NC_000002.11:g.101910526T>C, XM_005263921.5:c.730A>G, XM_005263921.4:c.730A>G, XM_005263921.3:c.730A>G, XM_005263921.2:c.730A>G, XM_005263921.1:c.730A>G, XM_005263920.4:c.730A>G, XM_005263920.3:c.730A>G, XM_005263920.2:c.730A>G, XM_005263920.1:c.730A>G, NM_173647.4:c.730A>G, NM_173647.3:c.730A>G, XR_922909.4:n.724A>G, XR_922909.3:n.713A>G, XR_922909.2:n.739A>G, XR_922909.1:n.739A>G, XR_001738712.3:n.843A>G, XR_001738712.2:n.832A>G, XR_001738712.1:n.858A>G, XR_922908.3:n.843A>G, XR_922908.2:n.832A>G, XR_922908.1:n.858A>G, XM_024452811.2:c.730A>G, XM_024452811.1:c.730A>G, XM_047443979.1:c.730A>G, XP_005263978.1:p.Lys244Glu, XP_005263977.1:p.Lys244Glu, NP_775918.2:p.Lys244Glu, XP_024308579.1:p.Lys244Glu, XP_047299935.1:p.Lys244Glu

Select item 147103204115.

rs1471032041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:101286125 (GRCh38)
2:101902587 (GRCh37)
Canonical SPDI:: NC_000002.12:101286124:A:G
Gene:: RNF149 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000002.12:g.101286125A>G, NC_000002.11:g.101902587A>G, XM_005263921.5:c.916T>C, XM_005263921.4:c.916T>C, XM_005263921.3:c.916T>C, XM_005263921.2:c.916T>C, XM_005263921.1:c.916T>C, XM_005263920.4:c.916T>C, XM_005263920.3:c.916T>C, XM_005263920.2:c.916T>C, XM_005263920.1:c.916T>C, NM_173647.4:c.916T>C, NM_173647.3:c.916T>C, XR_001738712.3:n.1029T>C, XR_001738712.2:n.1018T>C, XR_001738712.1:n.1044T>C, XR_922908.3:n.1029T>C, XR_922908.2:n.1018T>C, XR_922908.1:n.1044T>C, XM_024452811.2:c.916T>C, XM_024452811.1:c.916T>C, XP_005263978.1:p.Cys306Arg, XP_005263977.1:p.Cys306Arg, NP_775918.2:p.Cys306Arg, XP_024308579.1:p.Cys306Arg

Select item 146713752316.

rs1467137523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:101308132 (GRCh38)
2:101924594 (GRCh37)
Canonical SPDI:: NC_000002.12:101308131:C:T
Gene:: RNF149 (Varview), MIR5696 (Varview), LOC105373512 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (KOREAN)
HGVS:: NC_000002.12:g.101308132C>T, NC_000002.11:g.101924594C>T, XM_005263921.5:c.457G>A, XM_005263921.4:c.457G>A, XM_005263921.3:c.457G>A, XM_005263921.2:c.457G>A, XM_005263921.1:c.457G>A, XM_005263920.4:c.457G>A, XM_005263920.3:c.457G>A, XM_005263920.2:c.457G>A, XM_005263920.1:c.457G>A, NM_173647.4:c.457G>A, NM_173647.3:c.457G>A, XR_922909.4:n.570G>A, XR_922909.3:n.559G>A, XR_922909.2:n.585G>A, XR_922909.1:n.585G>A, XR_001738712.3:n.570G>A, XR_001738712.2:n.559G>A, XR_001738712.1:n.585G>A, XR_922908.3:n.570G>A, XR_922908.2:n.559G>A, XR_922908.1:n.585G>A, XM_024452811.2:c.457G>A, XM_024452811.1:c.457G>A, XM_047443979.1:c.457G>A, XP_005263978.1:p.Ala153Thr, XP_005263977.1:p.Ala153Thr, NP_775918.2:p.Ala153Thr, XP_024308579.1:p.Ala153Thr, XP_047299935.1:p.Ala153Thr

Select item 146675300517.

rs1466753005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:101295085 (GRCh38)
2:101911547 (GRCh37)
Canonical SPDI:: NC_000002.12:101295084:C:T
Gene:: RNF149 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.101295085C>T, NC_000002.11:g.101911547C>T, XM_005263921.5:c.557G>A, XM_005263921.4:c.557G>A, XM_005263921.3:c.557G>A, XM_005263921.2:c.557G>A, XM_005263921.1:c.557G>A, XM_005263920.4:c.557G>A, XM_005263920.3:c.557G>A, XM_005263920.2:c.557G>A, XM_005263920.1:c.557G>A, NM_173647.4:c.557G>A, NM_173647.3:c.557G>A, XR_922909.4:n.670G>A, XR_922909.3:n.659G>A, XR_922909.2:n.685G>A, XR_922909.1:n.685G>A, XR_001738712.3:n.670G>A, XR_001738712.2:n.659G>A, XR_001738712.1:n.685G>A, XR_922908.3:n.670G>A, XR_922908.2:n.659G>A, XR_922908.1:n.685G>A, XM_024452811.2:c.557G>A, XM_024452811.1:c.557G>A, XM_047443979.1:c.557G>A, XP_005263978.1:p.Gly186Glu, XP_005263977.1:p.Gly186Glu, NP_775918.2:p.Gly186Glu, XP_024308579.1:p.Gly186Glu, XP_047299935.1:p.Gly186Glu

Select item 146308499718.

rs1463084997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:101281947 (GRCh38)
2:101898409 (GRCh37)
Canonical SPDI:: NC_000002.12:101281946:G:C
Gene:: RNF149 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.101281947G>C, NC_000002.11:g.101898409G>C, XM_005263921.5:c.1071C>G, XM_005263921.4:c.1071C>G, XM_005263921.3:c.1071C>G, XM_005263921.2:c.1071C>G, XM_005263921.1:c.1071C>G, XM_005263920.4:c.1071C>G, XM_005263920.3:c.1071C>G, XM_005263920.2:c.1071C>G, XM_005263920.1:c.1071C>G, NM_173647.4:c.1071C>G, NM_173647.3:c.1071C>G, XR_001738712.3:n.1184C>G, XR_001738712.2:n.1173C>G, XR_001738712.1:n.1199C>G, XR_922908.3:n.1184C>G, XR_922908.2:n.1173C>G, XR_922908.1:n.1199C>G, XM_024452811.2:c.1071C>G, XM_024452811.1:c.1071C>G, XM_047443979.1:c.*38C>G, XP_005263978.1:p.Ser357Arg, XP_005263977.1:p.Ser357Arg, NP_775918.2:p.Ser357Arg, XP_024308579.1:p.Ser357Arg

Select item 146150888319.

rs1461508883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:101286144 (GRCh38)
2:101902606 (GRCh37)
Canonical SPDI:: NC_000002.12:101286143:C:T
Gene:: RNF149 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.101286144C>T, NC_000002.11:g.101902606C>T, XM_005263921.5:c.897G>A, XM_005263921.4:c.897G>A, XM_005263921.3:c.897G>A, XM_005263921.2:c.897G>A, XM_005263921.1:c.897G>A, XM_005263920.4:c.897G>A, XM_005263920.3:c.897G>A, XM_005263920.2:c.897G>A, XM_005263920.1:c.897G>A, NM_173647.4:c.897G>A, NM_173647.3:c.897G>A, XR_001738712.3:n.1010G>A, XR_001738712.2:n.999G>A, XR_001738712.1:n.1025G>A, XR_922908.3:n.1010G>A, XR_922908.2:n.999G>A, XR_922908.1:n.1025G>A, XM_024452811.2:c.897G>A, XM_024452811.1:c.897G>A, XP_005263978.1:p.Trp299Ter, XP_005263977.1:p.Trp299Ter, NP_775918.2:p.Trp299Ter, XP_024308579.1:p.Trp299Ter

Select item 146087148520.

rs1460871485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:101308439 (GRCh38)
2:101924901 (GRCh37)
Canonical SPDI:: NC_000002.12:101308438:C:T
Gene:: RNF149 (Varview), MIR5696 (Varview), LOC105373512 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.101308439C>T, NC_000002.11:g.101924901C>T, XM_005263921.5:c.150G>A, XM_005263921.4:c.150G>A, XM_005263921.3:c.150G>A, XM_005263921.2:c.150G>A, XM_005263921.1:c.150G>A, XM_005263920.4:c.150G>A, XM_005263920.3:c.150G>A, XM_005263920.2:c.150G>A, XM_005263920.1:c.150G>A, NM_173647.4:c.150G>A, NM_173647.3:c.150G>A, XR_922909.4:n.263G>A, XR_922909.3:n.252G>A, XR_922909.2:n.278G>A, XR_922909.1:n.278G>A, XR_001738712.3:n.263G>A, XR_001738712.2:n.252G>A, XR_001738712.1:n.278G>A, XR_922908.3:n.263G>A, XR_922908.2:n.252G>A, XR_922908.1:n.278G>A, XM_024452811.2:c.150G>A, XM_024452811.1:c.150G>A, XM_047443979.1:c.150G>A

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