SNP Links for Protein (Select 14150090) - SNP

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Links from Protein

Items: 1 to 20 of 215

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Select item 14866450561.

rs1486645056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73229468 (GRCh38)
2:73456596 (GRCh37)
Canonical SPDI:: NC_000002.12:73229467:C:T
Gene:: PRADC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000002.12:g.73229468C>T, NC_000002.11:g.73456596C>T, NG_047121.1:g.1044C>T, NM_032319.3:c.271G>A, NM_032319.2:c.271G>A, NM_032319.1:c.271G>A, NR_144358.1:n.395G>A, NP_115695.1:p.Glu91Lys

Select item 14853120632.

rs1485312063 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:73230118 (GRCh38)
2:73457247 (GRCh37)
Canonical SPDI:: NC_000002.12:73230118:A:AA
Gene:: PRADC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.73230119dup, NC_000002.11:g.73457247dup, NG_047121.1:g.1695dup, NM_032319.3:c.162dup, NM_032319.2:c.162dup, NM_032319.1:c.162dup, NR_144358.1:n.286dup, NP_115695.1:p.Ile55fs

Select item 14785699483.

rs1478569948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:73229534 (GRCh38)
2:73456662 (GRCh37)
Canonical SPDI:: NC_000002.12:73229533:C:G
Gene:: PRADC1 (Varview)
Functional Consequence:: 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.73229534C>G, NC_000002.11:g.73456662C>G, NG_047121.1:g.1110C>G, NM_032319.3:c.205G>C, NM_032319.2:c.205G>C, NM_032319.1:c.205G>C, NR_144358.1:n.329G>C, NP_115695.1:p.Glu69Gln

Select item 14769861124.

rs1476986112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73228925 (GRCh38)
2:73456053 (GRCh37)
Canonical SPDI:: NC_000002.12:73228924:C:T
Gene:: PRADC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.73228925C>T, NC_000002.11:g.73456053C>T, NG_047121.1:g.501C>T, NM_032319.3:c.316G>A, NM_032319.2:c.316G>A, NM_032319.1:c.316G>A, NR_144358.1:n.418G>A, NP_115695.1:p.Glu106Lys

Select item 14752574285.

rs1475257428 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:73228459 (GRCh38)
2:73455587 (GRCh37)
Canonical SPDI:: NC_000002.12:73228458:A:
Gene:: PRADC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.73228459del, NC_000002.11:g.73455587del, NG_047121.1:g.35del, NM_032319.3:c.562del, NM_032319.2:c.562del, NM_032319.1:c.562del, NR_144358.1:n.664del, NP_115695.1:p.Trp188fs

Select item 14749292206.

rs1474929220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:73228876 (GRCh38)
2:73456004 (GRCh37)
Canonical SPDI:: NC_000002.12:73228875:T:A
Gene:: PRADC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.73228876T>A, NC_000002.11:g.73456004T>A, NG_047121.1:g.452T>A, NM_032319.3:c.365A>T, NM_032319.2:c.365A>T, NM_032319.1:c.365A>T, NR_144358.1:n.467A>T, NP_115695.1:p.Asp122Val

Select item 14705583187.

rs1470558318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:73233095 (GRCh38)
2:73460223 (GRCh37)
Canonical SPDI:: NC_000002.12:73233094:G:A
Gene:: CCT7 (Varview), PRADC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000002.12:g.73233095G>A, NC_000002.11:g.73460223G>A, NG_047121.1:g.4671G>A, NM_032319.3:c.66C>T, NM_032319.2:c.66C>T, NM_032319.1:c.66C>T, NR_144358.1:n.190C>T

Select item 14649566378.

rs1464956637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:73228815 (GRCh38)
2:73455943 (GRCh37)
Canonical SPDI:: NC_000002.12:73228814:G:T
Gene:: PRADC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.73228815G>T, NC_000002.11:g.73455943G>T, NG_047121.1:g.391G>T, NM_032319.3:c.426C>A, NM_032319.2:c.426C>A, NM_032319.1:c.426C>A, NR_144358.1:n.528C>A

Select item 14647351089.

rs1464735108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:73228470 (GRCh38)
2:73455598 (GRCh37)
Canonical SPDI:: NC_000002.12:73228469:G:T
Gene:: PRADC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.73228470G>T, NC_000002.11:g.73455598G>T, NG_047121.1:g.46G>T, NM_032319.3:c.551C>A, NM_032319.2:c.551C>A, NM_032319.1:c.551C>A, NR_144358.1:n.653C>A, NP_115695.1:p.Pro184His

Select item 146421703510.

rs1464217035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73228883 (GRCh38)
2:73456011 (GRCh37)
Canonical SPDI:: NC_000002.12:73228882:C:T
Gene:: PRADC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000002.12:g.73228883C>T, NC_000002.11:g.73456011C>T, NG_047121.1:g.459C>T, NM_032319.3:c.358G>A, NM_032319.2:c.358G>A, NM_032319.1:c.358G>A, NR_144358.1:n.460G>A, NP_115695.1:p.Asp120Asn

Select item 146231357411.

rs1462313574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73228935 (GRCh38)
2:73456063 (GRCh37)
Canonical SPDI:: NC_000002.12:73228934:C:T
Gene:: PRADC1 (Varview)
Functional Consequence:: 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 (TOPMED)
HGVS:: NC_000002.12:g.73228935C>T, NC_000002.11:g.73456063C>T, NG_047121.1:g.511C>T, NM_032319.3:c.306G>A, NM_032319.2:c.306G>A, NM_032319.1:c.306G>A, NR_144358.1:n.408G>A

Select item 146197522012.

rs1461975220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:73229564 (GRCh38)
2:73456692 (GRCh37)
Canonical SPDI:: NC_000002.12:73229563:T:C
Gene:: PRADC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000002.12:g.73229564T>C, NC_000002.11:g.73456692T>C, NG_047121.1:g.1140T>C, NM_032319.3:c.175A>G, NM_032319.2:c.175A>G, NM_032319.1:c.175A>G, NR_144358.1:n.299A>G, NP_115695.1:p.Arg59Gly

Select item 146162236213.

rs1461622362 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCATACCTT [Show Flanks]
Chromosome:: 2:73229556 (GRCh38)
2:73456685 (GRCh37)
Canonical SPDI:: NC_000002.12:73229556:TCATACCTT:TCATACCTTTCATACCTT
Gene:: PRADC1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,non_coding_transcript_variant
Validated:: by frequency
MAF:: TCATACCTT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.73229557_73229565dup, NC_000002.11:g.73456685_73456693dup, NG_047121.1:g.1133_1141dup, NM_032319.3:c.174_182dup, NM_032319.2:c.174_182dup, NM_032319.1:c.174_182dup, NR_144358.1:n.298_306dup, NP_115695.1:p.Arg59_Glu61dup

Select item 146109487214.

rs1461094872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73233127 (GRCh38)
2:73460255 (GRCh37)
Canonical SPDI:: NC_000002.12:73233126:C:T
Gene:: CCT7 (Varview), PRADC1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.73233127C>T, NC_000002.11:g.73460255C>T, NG_047121.1:g.4703C>T, NM_032319.3:c.34G>A, NM_032319.2:c.34G>A, NM_032319.1:c.34G>A, NR_144358.1:n.158G>A, NP_115695.1:p.Val12Met

Select item 145508191315.

rs1455081913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:73229492 (GRCh38)
2:73456620 (GRCh37)
Canonical SPDI:: NC_000002.12:73229491:T:C
Gene:: PRADC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.73229492T>C, NC_000002.11:g.73456620T>C, NG_047121.1:g.1068T>C, NM_032319.3:c.247A>G, NM_032319.2:c.247A>G, NM_032319.1:c.247A>G, NR_144358.1:n.371A>G, NP_115695.1:p.Ile83Val

Select item 145498725116.

rs1454987251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:73228537 (GRCh38)
2:73455665 (GRCh37)
Canonical SPDI:: NC_000002.12:73228536:G:A
Gene:: PRADC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000002.12:g.73228537G>A, NC_000002.11:g.73455665G>A, NG_047121.1:g.113G>A, NM_032319.3:c.484C>T, NM_032319.2:c.484C>T, NM_032319.1:c.484C>T, NR_144358.1:n.586C>T, NP_115695.1:p.Pro162Ser

Select item 145318345917.

rs1453183459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:73230126 (GRCh38)
2:73457254 (GRCh37)
Canonical SPDI:: NC_000002.12:73230125:A:G
Gene:: PRADC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.73230126A>G, NC_000002.11:g.73457254A>G, NG_047121.1:g.1702A>G, NM_032319.3:c.155T>C, NM_032319.2:c.155T>C, NM_032319.1:c.155T>C, NR_144358.1:n.279T>C, NP_115695.1:p.Phe52Ser

Select item 145185073618.

rs1451850736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:73228454 (GRCh38)
2:73455582 (GRCh37)
Canonical SPDI:: NC_000002.12:73228453:C:A,NC_000002.12:73228453:C:T
Gene:: PRADC1 (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant,stop_lost,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.73228454C>A, NC_000002.12:g.73228454C>T, NC_000002.11:g.73455582C>A, NC_000002.11:g.73455582C>T, NG_047121.1:g.30C>A, NG_047121.1:g.30C>T, NM_032319.3:c.567G>T, NM_032319.3:c.567G>A, NM_032319.2:c.567G>T, NM_032319.2:c.567G>A, NM_032319.1:c.567G>T, NM_032319.1:c.567G>A, NR_144358.1:n.669G>T, NR_144358.1:n.669G>A, NP_115695.1:p.Ter189Tyr

Select item 144982197619.

rs1449821976 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:73228933 (GRCh38)
2:73456061 (GRCh37)
Canonical SPDI:: NC_000002.12:73228932:A:G
Gene:: PRADC1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.73228933A>G, NC_000002.11:g.73456061A>G, NG_047121.1:g.509A>G, NM_032319.3:c.308T>C, NM_032319.2:c.308T>C, NM_032319.1:c.308T>C, NR_144358.1:n.410T>C, NP_115695.1:p.Val103Ala

Select item 144910768620.

rs1449107686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73228832 (GRCh38)
2:73455960 (GRCh37)
Canonical SPDI:: NC_000002.12:73228831:C:T
Gene:: PRADC1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.73228832C>T, NC_000002.11:g.73455960C>T, NG_047121.1:g.408C>T, NM_032319.3:c.409G>A, NM_032319.2:c.409G>A, NM_032319.1:c.409G>A, NR_144358.1:n.511G>A, NP_115695.1:p.Ala137Thr