SNP Links for Protein (Select 767932404) - SNP

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Links from Protein

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Select item 14845678311.

rs1484567831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:141053677 (GRCh38)
4:141974831 (GRCh37)
Canonical SPDI:: NC_000004.12:141053676:G:A
Gene:: RNF150 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000025/2 (GnomAD_exomes)
A=0.000036/5 (GnomAD)
A=0.000053/14 (TOPMED)
A=0.000223/1 (Estonian)
A=0.004673/1 (Vietnamese)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.141053677G>A, NC_000004.11:g.141974831G>A, XM_005263150.6:c.539C>T, XM_005263150.5:c.539C>T, XM_005263150.4:c.539C>T, XM_005263150.3:c.539C>T, XM_005263150.2:c.539C>T, XM_005263150.1:c.539C>T, XM_011532148.4:c.50C>T, XM_011532148.3:c.50C>T, XM_011532148.2:c.50C>T, XM_011532148.1:c.50C>T, XM_047415996.1:c.89C>T, XP_005263207.1:p.Ser180Phe, XP_011530450.1:p.Ser17Phe, XP_047271952.1:p.Ser30Phe

Select item 14832675152.

rs1483267515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:140868292 (GRCh38)
4:141789446 (GRCh37)
Canonical SPDI:: NC_000004.12:140868291:G:C,NC_000004.12:140868291:G:T
Gene:: RNF150 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140868292G>C, NC_000004.12:g.140868292G>T, NC_000004.11:g.141789446G>C, NC_000004.11:g.141789446G>T, XM_005263150.6:c.1352C>G, XM_005263150.6:c.1352C>A, XM_005263150.5:c.1352C>G, XM_005263150.5:c.1352C>A, XM_005263150.4:c.1352C>G, XM_005263150.4:c.1352C>A, XM_005263150.3:c.1352C>G, XM_005263150.3:c.1352C>A, XM_005263150.2:c.1352C>G, XM_005263150.2:c.1352C>A, XM_005263150.1:c.1352C>G, XM_005263150.1:c.1352C>A, XM_011532148.4:c.863C>G, XM_011532148.4:c.863C>A, XM_011532148.3:c.863C>G, XM_011532148.3:c.863C>A, XM_011532148.2:c.863C>G, XM_011532148.2:c.863C>A, XM_011532148.1:c.863C>G, XM_011532148.1:c.863C>A, NM_020724.2:c.1286C>G, NM_020724.2:c.1286C>A, NM_020724.1:c.1286C>G, NM_020724.1:c.1286C>A, XM_017008475.2:c.836C>G, XM_017008475.2:c.836C>A, XM_017008475.1:c.836C>G, XM_017008475.1:c.836C>A, XM_047415996.1:c.902C>G, XM_047415996.1:c.902C>A, XM_047415998.1:c.779C>G, XM_047415998.1:c.779C>A, XM_017008476.1:c.779C>G, XM_017008476.1:c.779C>A, XP_005263207.1:p.Thr451Ser, XP_005263207.1:p.Thr451Asn, XP_011530450.1:p.Thr288Ser, XP_011530450.1:p.Thr288Asn, NP_065775.1:p.Thr429Ser, NP_065775.1:p.Thr429Asn, XP_016863964.1:p.Thr279Ser, XP_016863964.1:p.Thr279Asn, XP_047271952.1:p.Thr301Ser, XP_047271952.1:p.Thr301Asn, XP_047271954.1:p.Thr260Ser, XP_047271954.1:p.Thr260Asn, XP_016863965.1:p.Thr260Ser, XP_016863965.1:p.Thr260Asn

Select item 14780264553.

rs1478026455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:140967738 (GRCh38)
4:141888892 (GRCh37)
Canonical SPDI:: NC_000004.12:140967737:G:A
Gene:: RNF150 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.140967738G>A, NC_000004.11:g.141888892G>A, XM_005263150.6:c.686C>T, XM_005263150.5:c.686C>T, XM_005263150.4:c.686C>T, XM_005263150.3:c.686C>T, XM_005263150.2:c.686C>T, XM_005263150.1:c.686C>T, XM_011532148.4:c.197C>T, XM_011532148.3:c.197C>T, XM_011532148.2:c.197C>T, XM_011532148.1:c.197C>T, NM_020724.2:c.620C>T, NM_020724.1:c.620C>T, XM_017008475.2:c.170C>T, XM_017008475.1:c.170C>T, XM_047415996.1:c.236C>T, XM_047415998.1:c.113C>T, XM_017008476.1:c.113C>T, XP_005263207.1:p.Thr229Ile, XP_011530450.1:p.Thr66Ile, NP_065775.1:p.Thr207Ile, XP_016863964.1:p.Thr57Ile, XP_047271952.1:p.Thr79Ile, XP_047271954.1:p.Thr38Ile, XP_016863965.1:p.Thr38Ile

Select item 14754260864.

rs1475426086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:141053705 (GRCh38)
4:141974859 (GRCh37)
Canonical SPDI:: NC_000004.12:141053704:G:A
Gene:: RNF150 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.141053705G>A, NC_000004.11:g.141974859G>A, XM_005263150.6:c.511C>T, XM_005263150.5:c.511C>T, XM_005263150.4:c.511C>T, XM_005263150.3:c.511C>T, XM_005263150.2:c.511C>T, XM_005263150.1:c.511C>T, XM_011532148.4:c.22C>T, XM_011532148.3:c.22C>T, XM_011532148.2:c.22C>T, XM_011532148.1:c.22C>T, XM_047415996.1:c.61C>T

Select item 14659941615.

rs1465994161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:140949331 (GRCh38)
4:141870485 (GRCh37)
Canonical SPDI:: NC_000004.12:140949330:G:C
Gene:: RNF150 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140949331G>C, NC_000004.11:g.141870485G>C, XM_005263150.6:c.843C>G, XM_005263150.5:c.843C>G, XM_005263150.4:c.843C>G, XM_005263150.3:c.843C>G, XM_005263150.2:c.843C>G, XM_005263150.1:c.843C>G, XM_011532148.4:c.354C>G, XM_011532148.3:c.354C>G, XM_011532148.2:c.354C>G, XM_011532148.1:c.354C>G, NM_020724.2:c.777C>G, NM_020724.1:c.777C>G, XM_017008475.2:c.327C>G, XM_017008475.1:c.327C>G, XM_047415996.1:c.393C>G, XM_047415998.1:c.270C>G, XM_017008476.1:c.270C>G

Select item 14620863376.

rs1462086337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:141053700 (GRCh38)
4:141974854 (GRCh37)
Canonical SPDI:: NC_000004.12:141053699:C:T
Gene:: RNF150 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.141053700C>T, NC_000004.11:g.141974854C>T, XM_005263150.6:c.516G>A, XM_005263150.5:c.516G>A, XM_005263150.4:c.516G>A, XM_005263150.3:c.516G>A, XM_005263150.2:c.516G>A, XM_005263150.1:c.516G>A, XM_011532148.4:c.27G>A, XM_011532148.3:c.27G>A, XM_011532148.2:c.27G>A, XM_011532148.1:c.27G>A, XM_047415996.1:c.66G>A

Select item 14614656877.

rs1461465687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:140967782 (GRCh38)
4:141888936 (GRCh37)
Canonical SPDI:: NC_000004.12:140967781:G:A
Gene:: RNF150 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000004.12:g.140967782G>A, NC_000004.11:g.141888936G>A, XM_005263150.6:c.642C>T, XM_005263150.5:c.642C>T, XM_005263150.4:c.642C>T, XM_005263150.3:c.642C>T, XM_005263150.2:c.642C>T, XM_005263150.1:c.642C>T, XM_011532148.4:c.153C>T, XM_011532148.3:c.153C>T, XM_011532148.2:c.153C>T, XM_011532148.1:c.153C>T, NM_020724.2:c.576C>T, NM_020724.1:c.576C>T, XM_017008475.2:c.126C>T, XM_017008475.1:c.126C>T, XM_047415996.1:c.192C>T, XM_047415998.1:c.69C>T, XM_017008476.1:c.69C>T

Select item 14613930918.

rs1461393091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:140911264 (GRCh38)
4:141832418 (GRCh37)
Canonical SPDI:: NC_000004.12:140911263:T:G
Gene:: RNF150 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140911264T>G, NC_000004.11:g.141832418T>G, XM_005263150.6:c.1144A>C, XM_005263150.5:c.1144A>C, XM_005263150.4:c.1144A>C, XM_005263150.3:c.1144A>C, XM_005263150.2:c.1144A>C, XM_005263150.1:c.1144A>C, XM_011532148.4:c.655A>C, XM_011532148.3:c.655A>C, XM_011532148.2:c.655A>C, XM_011532148.1:c.655A>C, NM_020724.2:c.1078A>C, NM_020724.1:c.1078A>C, XM_017008475.2:c.628A>C, XM_017008475.1:c.628A>C, XM_047415996.1:c.694A>C, XM_047415998.1:c.571A>C, XM_017008476.1:c.571A>C, XP_005263207.1:p.Thr382Pro, XP_011530450.1:p.Thr219Pro, NP_065775.1:p.Thr360Pro, XP_016863964.1:p.Thr210Pro, XP_047271952.1:p.Thr232Pro, XP_047271954.1:p.Thr191Pro, XP_016863965.1:p.Thr191Pro

Select item 14553974059.

rs1455397405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:141053717 (GRCh38)
4:141974871 (GRCh37)
Canonical SPDI:: NC_000004.12:141053716:G:A
Gene:: RNF150 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,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_000004.12:g.141053717G>A, NC_000004.11:g.141974871G>A, XM_005263150.6:c.499C>T, XM_005263150.5:c.499C>T, XM_005263150.4:c.499C>T, XM_005263150.3:c.499C>T, XM_005263150.2:c.499C>T, XM_005263150.1:c.499C>T, XM_011532148.4:c.10C>T, XM_011532148.3:c.10C>T, XM_011532148.2:c.10C>T, XM_011532148.1:c.10C>T, XM_047415996.1:c.49C>T, XP_005263207.1:p.His167Tyr, XP_011530450.1:p.His4Tyr, XP_047271952.1:p.His17Tyr

Select item 144666205210.

rs1446662052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:140911234 (GRCh38)
4:141832388 (GRCh37)
Canonical SPDI:: NC_000004.12:140911233:C:T
Gene:: RNF150 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140911234C>T, NC_000004.11:g.141832388C>T, XM_005263150.6:c.1174G>A, XM_005263150.5:c.1174G>A, XM_005263150.4:c.1174G>A, XM_005263150.3:c.1174G>A, XM_005263150.2:c.1174G>A, XM_005263150.1:c.1174G>A, XM_011532148.4:c.685G>A, XM_011532148.3:c.685G>A, XM_011532148.2:c.685G>A, XM_011532148.1:c.685G>A, NM_020724.2:c.1108G>A, NM_020724.1:c.1108G>A, XM_017008475.2:c.658G>A, XM_017008475.1:c.658G>A, XM_047415996.1:c.724G>A, XM_047415998.1:c.601G>A, XM_017008476.1:c.601G>A, XP_005263207.1:p.Asp392Asn, XP_011530450.1:p.Asp229Asn, NP_065775.1:p.Asp370Asn, XP_016863964.1:p.Asp220Asn, XP_047271952.1:p.Asp242Asn, XP_047271954.1:p.Asp201Asn, XP_016863965.1:p.Asp201Asn

Select item 144415927211.

rs1444159272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:140911314 (GRCh38)
4:141832468 (GRCh37)
Canonical SPDI:: NC_000004.12:140911313:T:C
Gene:: RNF150 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.140911314T>C, NC_000004.11:g.141832468T>C, XM_005263150.6:c.1094A>G, XM_005263150.5:c.1094A>G, XM_005263150.4:c.1094A>G, XM_005263150.3:c.1094A>G, XM_005263150.2:c.1094A>G, XM_005263150.1:c.1094A>G, XM_011532148.4:c.605A>G, XM_011532148.3:c.605A>G, XM_011532148.2:c.605A>G, XM_011532148.1:c.605A>G, NM_020724.2:c.1028A>G, NM_020724.1:c.1028A>G, XM_017008475.2:c.578A>G, XM_017008475.1:c.578A>G, XM_047415996.1:c.644A>G, XM_047415998.1:c.521A>G, XM_017008476.1:c.521A>G, XP_005263207.1:p.Glu365Gly, XP_011530450.1:p.Glu202Gly, NP_065775.1:p.Glu343Gly, XP_016863964.1:p.Glu193Gly, XP_047271952.1:p.Glu215Gly, XP_047271954.1:p.Glu174Gly, XP_016863965.1:p.Glu174Gly

Select item 144172067212.

rs1441720672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:140967838 (GRCh38)
4:141888992 (GRCh37)
Canonical SPDI:: NC_000004.12:140967837:G:A
Gene:: RNF150 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.140967838G>A, NC_000004.11:g.141888992G>A, XM_005263150.6:c.586C>T, XM_005263150.5:c.586C>T, XM_005263150.4:c.586C>T, XM_005263150.3:c.586C>T, XM_005263150.2:c.586C>T, XM_005263150.1:c.586C>T, XM_011532148.4:c.97C>T, XM_011532148.3:c.97C>T, XM_011532148.2:c.97C>T, XM_011532148.1:c.97C>T, NM_020724.2:c.520C>T, NM_020724.1:c.520C>T, XM_017008475.2:c.70C>T, XM_017008475.1:c.70C>T, XM_047415996.1:c.136C>T, XM_047415998.1:c.13C>T, XM_017008476.1:c.13C>T, XP_005263207.1:p.Pro196Ser, XP_011530450.1:p.Pro33Ser, NP_065775.1:p.Pro174Ser, XP_016863964.1:p.Pro24Ser, XP_047271952.1:p.Pro46Ser, XP_047271954.1:p.Pro5Ser, XP_016863965.1:p.Pro5Ser

Select item 144155938013.

rs1441559380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:141053688 (GRCh38)
4:141974842 (GRCh37)
Canonical SPDI:: NC_000004.12:141053687:T:C
Gene:: RNF150 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000012/1 (GnomAD_exomes)
C=0.000045/12 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000004.12:g.141053688T>C, NC_000004.11:g.141974842T>C, XM_005263150.6:c.528A>G, XM_005263150.5:c.528A>G, XM_005263150.4:c.528A>G, XM_005263150.3:c.528A>G, XM_005263150.2:c.528A>G, XM_005263150.1:c.528A>G, XM_011532148.4:c.39A>G, XM_011532148.3:c.39A>G, XM_011532148.2:c.39A>G, XM_011532148.1:c.39A>G, XM_047415996.1:c.78A>G

Select item 142736766814.

rs1427367668 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:140967668 (GRCh38)
4:141888822 (GRCh37)
Canonical SPDI:: NC_000004.12:140967667:A:G
Gene:: RNF150 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140967668A>G, NC_000004.11:g.141888822A>G, XM_005263150.6:c.756T>C, XM_005263150.5:c.756T>C, XM_005263150.4:c.756T>C, XM_005263150.3:c.756T>C, XM_005263150.2:c.756T>C, XM_005263150.1:c.756T>C, XM_011532148.4:c.267T>C, XM_011532148.3:c.267T>C, XM_011532148.2:c.267T>C, XM_011532148.1:c.267T>C, NM_020724.2:c.690T>C, NM_020724.1:c.690T>C, XM_017008475.2:c.240T>C, XM_017008475.1:c.240T>C, XM_047415996.1:c.306T>C, XM_047415998.1:c.183T>C, XM_017008476.1:c.183T>C

Select item 142270596915.

rs1422705969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:140911259 (GRCh38)
4:141832413 (GRCh37)
Canonical SPDI:: NC_000004.12:140911258:T:C
Gene:: RNF150 (Varview)
Functional Consequence:: synonymous_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_000004.12:g.140911259T>C, NC_000004.11:g.141832413T>C, XM_005263150.6:c.1149A>G, XM_005263150.5:c.1149A>G, XM_005263150.4:c.1149A>G, XM_005263150.3:c.1149A>G, XM_005263150.2:c.1149A>G, XM_005263150.1:c.1149A>G, XM_011532148.4:c.660A>G, XM_011532148.3:c.660A>G, XM_011532148.2:c.660A>G, XM_011532148.1:c.660A>G, NM_020724.2:c.1083A>G, NM_020724.1:c.1083A>G, XM_017008475.2:c.633A>G, XM_017008475.1:c.633A>G, XM_047415996.1:c.699A>G, XM_047415998.1:c.576A>G, XM_017008476.1:c.576A>G

Select item 141628762316.

rs1416287623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:140967656 (GRCh38)
4:141888810 (GRCh37)
Canonical SPDI:: NC_000004.12:140967655:C:T
Gene:: RNF150 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.140967656C>T, NC_000004.11:g.141888810C>T, XM_005263150.6:c.768G>A, XM_005263150.5:c.768G>A, XM_005263150.4:c.768G>A, XM_005263150.3:c.768G>A, XM_005263150.2:c.768G>A, XM_005263150.1:c.768G>A, XM_011532148.4:c.279G>A, XM_011532148.3:c.279G>A, XM_011532148.2:c.279G>A, XM_011532148.1:c.279G>A, NM_020724.2:c.702G>A, NM_020724.1:c.702G>A, XM_017008475.2:c.252G>A, XM_017008475.1:c.252G>A, XM_047415996.1:c.318G>A, XM_047415998.1:c.195G>A, XM_017008476.1:c.195G>A

Select item 141154142517.

rs1411541425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:140911245 (GRCh38)
4:141832399 (GRCh37)
Canonical SPDI:: NC_000004.12:140911244:G:A
Gene:: RNF150 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.140911245G>A, NC_000004.11:g.141832399G>A, XM_005263150.6:c.1163C>T, XM_005263150.5:c.1163C>T, XM_005263150.4:c.1163C>T, XM_005263150.3:c.1163C>T, XM_005263150.2:c.1163C>T, XM_005263150.1:c.1163C>T, XM_011532148.4:c.674C>T, XM_011532148.3:c.674C>T, XM_011532148.2:c.674C>T, XM_011532148.1:c.674C>T, NM_020724.2:c.1097C>T, NM_020724.1:c.1097C>T, XM_017008475.2:c.647C>T, XM_017008475.1:c.647C>T, XM_047415996.1:c.713C>T, XM_047415998.1:c.590C>T, XM_017008476.1:c.590C>T, XP_005263207.1:p.Ser388Leu, XP_011530450.1:p.Ser225Leu, NP_065775.1:p.Ser366Leu, XP_016863964.1:p.Ser216Leu, XP_047271952.1:p.Ser238Leu, XP_047271954.1:p.Ser197Leu, XP_016863965.1:p.Ser197Leu

Select item 141080974718.

rs1410809747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:140949304 (GRCh38)
4:141870458 (GRCh37)
Canonical SPDI:: NC_000004.12:140949303:G:C,NC_000004.12:140949303:G:T
Gene:: RNF150 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140949304G>C, NC_000004.12:g.140949304G>T, NC_000004.11:g.141870458G>C, NC_000004.11:g.141870458G>T, XM_005263150.6:c.870C>G, XM_005263150.6:c.870C>A, XM_005263150.5:c.870C>G, XM_005263150.5:c.870C>A, XM_005263150.4:c.870C>G, XM_005263150.4:c.870C>A, XM_005263150.3:c.870C>G, XM_005263150.3:c.870C>A, XM_005263150.2:c.870C>G, XM_005263150.2:c.870C>A, XM_005263150.1:c.870C>G, XM_005263150.1:c.870C>A, XM_011532148.4:c.381C>G, XM_011532148.4:c.381C>A, XM_011532148.3:c.381C>G, XM_011532148.3:c.381C>A, XM_011532148.2:c.381C>G, XM_011532148.2:c.381C>A, XM_011532148.1:c.381C>G, XM_011532148.1:c.381C>A, NM_020724.2:c.804C>G, NM_020724.2:c.804C>A, NM_020724.1:c.804C>G, NM_020724.1:c.804C>A, XM_017008475.2:c.354C>G, XM_017008475.2:c.354C>A, XM_017008475.1:c.354C>G, XM_017008475.1:c.354C>A, XM_047415996.1:c.420C>G, XM_047415996.1:c.420C>A, XM_047415998.1:c.297C>G, XM_047415998.1:c.297C>A, XM_017008476.1:c.297C>G, XM_017008476.1:c.297C>A, XP_005263207.1:p.Asp290Glu, XP_005263207.1:p.Asp290Glu, XP_011530450.1:p.Asp127Glu, XP_011530450.1:p.Asp127Glu, NP_065775.1:p.Asp268Glu, NP_065775.1:p.Asp268Glu, XP_016863964.1:p.Asp118Glu, XP_016863964.1:p.Asp118Glu, XP_047271952.1:p.Asp140Glu, XP_047271952.1:p.Asp140Glu, XP_047271954.1:p.Asp99Glu, XP_047271954.1:p.Asp99Glu, XP_016863965.1:p.Asp99Glu, XP_016863965.1:p.Asp99Glu

Select item 141074200819.

rs1410742008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:140868365 (GRCh38)
4:141789519 (GRCh37)
Canonical SPDI:: NC_000004.12:140868364:C:T
Gene:: RNF150 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.140868365C>T, NC_000004.11:g.141789519C>T, XM_005263150.6:c.1279G>A, XM_005263150.5:c.1279G>A, XM_005263150.4:c.1279G>A, XM_005263150.3:c.1279G>A, XM_005263150.2:c.1279G>A, XM_005263150.1:c.1279G>A, XM_011532148.4:c.790G>A, XM_011532148.3:c.790G>A, XM_011532148.2:c.790G>A, XM_011532148.1:c.790G>A, NM_020724.2:c.1213G>A, NM_020724.1:c.1213G>A, XM_017008475.2:c.763G>A, XM_017008475.1:c.763G>A, XM_047415996.1:c.829G>A, XM_047415998.1:c.706G>A, XM_017008476.1:c.706G>A, XP_005263207.1:p.Ala427Thr, XP_011530450.1:p.Ala264Thr, NP_065775.1:p.Ala405Thr, XP_016863964.1:p.Ala255Thr, XP_047271952.1:p.Ala277Thr, XP_047271954.1:p.Ala236Thr, XP_016863965.1:p.Ala236Thr

Select item 140735831920.

rs1407358319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:140911169 (GRCh38)
4:141832323 (GRCh37)
Canonical SPDI:: NC_000004.12:140911168:C:G,NC_000004.12:140911168:C:T
Gene:: RNF150 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.00007/1 (TOMMO)
HGVS:: NC_000004.12:g.140911169C>G, NC_000004.12:g.140911169C>T, NC_000004.11:g.141832323C>G, NC_000004.11:g.141832323C>T, XM_005263150.6:c.1239G>C, XM_005263150.6:c.1239G>A, XM_005263150.5:c.1239G>C, XM_005263150.5:c.1239G>A, XM_005263150.4:c.1239G>C, XM_005263150.4:c.1239G>A, XM_005263150.3:c.1239G>C, XM_005263150.3:c.1239G>A, XM_005263150.2:c.1239G>C, XM_005263150.2:c.1239G>A, XM_005263150.1:c.1239G>C, XM_005263150.1:c.1239G>A, XM_011532148.4:c.750G>C, XM_011532148.4:c.750G>A, XM_011532148.3:c.750G>C, XM_011532148.3:c.750G>A, XM_011532148.2:c.750G>C, XM_011532148.2:c.750G>A, XM_011532148.1:c.750G>C, XM_011532148.1:c.750G>A, NM_020724.2:c.1173G>C, NM_020724.2:c.1173G>A, NM_020724.1:c.1173G>C, NM_020724.1:c.1173G>A, XM_017008475.2:c.723G>C, XM_017008475.2:c.723G>A, XM_017008475.1:c.723G>C, XM_017008475.1:c.723G>A, XM_047415996.1:c.789G>C, XM_047415996.1:c.789G>A, XM_047415998.1:c.666G>C, XM_047415998.1:c.666G>A, XM_017008476.1:c.666G>C, XM_017008476.1:c.666G>A, XP_005263207.1:p.Glu413Asp, XP_011530450.1:p.Glu250Asp, NP_065775.1:p.Glu391Asp, XP_016863964.1:p.Glu241Asp, XP_047271952.1:p.Glu263Asp, XP_047271954.1:p.Glu222Asp, XP_016863965.1:p.Glu222Asp

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