SNP Links for Protein (Select 666637929) - SNP

Links from Protein

Items: 1 to 20 of 444

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Select item 14904749791.

rs1490474979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:149368193 (GRCh38)
5:148747756 (GRCh37)
Canonical SPDI:: NC_000005.10:149368192:A:C
Gene:: PCYOX1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.149368193A>C, NC_000005.9:g.148747756A>C, NM_024028.4:c.1024A>C, NM_024028.3:c.1024A>C, NM_001301054.2:c.973A>C, NM_001301054.1:c.973A>C, NM_001301057.2:c.796A>C, NM_001301057.1:c.796A>C, NM_001301055.1:c.973A>C, NP_076933.3:p.Asn342His, NP_001287983.1:p.Asn325His, NP_001287986.1:p.Asn266His

Select item 14886686362.

rs1488668636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:149367446 (GRCh38)
5:148747009 (GRCh37)
Canonical SPDI:: NC_000005.10:149367445:A:C
Gene:: PCYOX1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.149367446A>C, NC_000005.9:g.148747009A>C, NM_024028.4:c.769A>C, NM_024028.3:c.769A>C, NM_001301054.2:c.718A>C, NM_001301054.1:c.718A>C, NM_001301057.2:c.541A>C, NM_001301057.1:c.541A>C, NM_001301055.1:c.718A>C, NP_076933.3:p.Thr257Pro, NP_001287983.1:p.Thr240Pro, NP_001287986.1:p.Thr181Pro

Select item 14865807423.

rs1486580742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149368378 (GRCh38)
5:148747941 (GRCh37)
Canonical SPDI:: NC_000005.10:149368377:T:C
Gene:: PCYOX1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.149368378T>C, NC_000005.9:g.148747941T>C, NM_024028.4:c.1209T>C, NM_024028.3:c.1209T>C, NM_001301054.2:c.1158T>C, NM_001301054.1:c.1158T>C, NM_001301057.2:c.981T>C, NM_001301057.1:c.981T>C, NM_001301055.1:c.1158T>C

Select item 14840905984.

rs1484090598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:149368217 (GRCh38)
5:148747780 (GRCh37)
Canonical SPDI:: NC_000005.10:149368216:G:C
Gene:: PCYOX1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.149368217G>C, NC_000005.9:g.148747780G>C, NM_024028.4:c.1048G>C, NM_024028.3:c.1048G>C, NM_001301054.2:c.997G>C, NM_001301054.1:c.997G>C, NM_001301057.2:c.820G>C, NM_001301057.1:c.820G>C, NM_001301055.1:c.997G>C, NP_076933.3:p.Asp350His, NP_001287983.1:p.Asp333His, NP_001287986.1:p.Asp274His

Select item 14838652575.

rs1483865257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:149362638 (GRCh38)
5:148742201 (GRCh37)
Canonical SPDI:: NC_000005.10:149362637:G:A,NC_000005.10:149362637:G:C
Gene:: PCYOX1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000032/8 (GnomAD_exomes)
A=0.000117/31 (TOPMED)
A=0.000157/22 (GnomAD)
HGVS:: NC_000005.10:g.149362638G>A, NC_000005.10:g.149362638G>C, NC_000005.9:g.148742201G>A, NC_000005.9:g.148742201G>C, NM_024028.4:c.90G>A, NM_024028.4:c.90G>C, NM_024028.3:c.90G>A, NM_024028.3:c.90G>C, NM_001301054.2:c.39G>A, NM_001301054.2:c.39G>C, NM_001301054.1:c.39G>A, NM_001301054.1:c.39G>C, NM_001301057.2:c.39G>A, NM_001301057.2:c.39G>C, NM_001301057.1:c.39G>A, NM_001301057.1:c.39G>C, NM_001301055.1:c.39G>A, NM_001301055.1:c.39G>C

Select item 14836012616.

rs1483601261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149368502 (GRCh38)
5:148748065 (GRCh37)
Canonical SPDI:: NC_000005.10:149368501:T:C
Gene:: PCYOX1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.149368502T>C, NC_000005.9:g.148748065T>C, NM_024028.4:c.1333T>C, NM_024028.3:c.1333T>C, NM_001301054.2:c.1282T>C, NM_001301054.1:c.1282T>C, NM_001301057.2:c.1105T>C, NM_001301057.1:c.1105T>C, NM_001301055.1:c.1282T>C, NP_076933.3:p.Tyr445His, NP_001287983.1:p.Tyr428His, NP_001287986.1:p.Tyr369His

Select item 14801076127.

rs1480107612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149362798 (GRCh38)
5:148742361 (GRCh37)
Canonical SPDI:: NC_000005.10:149362797:T:C
Gene:: PCYOX1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.149362798T>C, NC_000005.9:g.148742361T>C, NM_024028.4:c.250T>C, NM_024028.3:c.250T>C, NM_001301054.2:c.199T>C, NM_001301054.1:c.199T>C, NM_001301057.2:c.199T>C, NM_001301057.1:c.199T>C, NM_001301055.1:c.199T>C, NP_076933.3:p.Phe84Leu, NP_001287983.1:p.Phe67Leu, NP_001287986.1:p.Phe67Leu

Select item 14796787228.

rs1479678722 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 5:149367426 (GRCh38)
5:148746989 (GRCh37)
Canonical SPDI:: NC_000005.10:149367425:G:
Gene:: PCYOX1L (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.149367426del, NC_000005.9:g.148746989del, NM_024028.4:c.749del, NM_024028.3:c.749del, NM_001301054.2:c.698del, NM_001301054.1:c.698del, NM_001301057.2:c.521del, NM_001301057.1:c.521del, NM_001301055.1:c.698del, NP_076933.3:p.Cys250fs, NP_001287983.1:p.Cys233fs, NP_001287986.1:p.Cys174fs

Select item 14788746069.

rs1478874606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149358145 (GRCh38)
5:148737708 (GRCh37)
Canonical SPDI:: NC_000005.10:149358144:C:T
Gene:: PCYOX1L (Varview), GRPEL2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_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_000005.10:g.149358145C>T, NC_000005.9:g.148737708C>T, NG_074188.1:g.440C>T, NM_024028.4:c.77C>T, NM_024028.3:c.77C>T, NM_001301054.2:c.10C>T, NM_001301054.1:c.10C>T, NM_001301057.2:c.10C>T, NM_001301057.1:c.10C>T, NM_001301055.1:c.10C>T, NP_076933.3:p.Pro26Leu, NP_001287983.1:p.Arg4Trp, NP_001287986.1:p.Arg4Trp

Select item 147634931010.

rs1476349310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:149368081 (GRCh38)
5:148747644 (GRCh37)
Canonical SPDI:: NC_000005.10:149368080:G:A
Gene:: PCYOX1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.149368081G>A, NC_000005.9:g.148747644G>A, NM_024028.4:c.912G>A, NM_024028.3:c.912G>A, NM_001301054.2:c.861G>A, NM_001301054.1:c.861G>A, NM_001301057.2:c.684G>A, NM_001301057.1:c.684G>A, NM_001301055.1:c.861G>A

Select item 147422328611.

rs1474223286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:149368248 (GRCh38)
5:148747811 (GRCh37)
Canonical SPDI:: NC_000005.10:149368247:T:G
Gene:: PCYOX1L (Varview)
Functional Consequence:: 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_000005.10:g.149368248T>G, NC_000005.9:g.148747811T>G, NM_024028.4:c.1079T>G, NM_024028.3:c.1079T>G, NM_001301054.2:c.1028T>G, NM_001301054.1:c.1028T>G, NM_001301057.2:c.851T>G, NM_001301057.1:c.851T>G, NM_001301055.1:c.1028T>G, NP_076933.3:p.Leu360Arg, NP_001287983.1:p.Leu343Arg, NP_001287986.1:p.Leu284Arg

Select item 146869081212.

rs1468690812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:149368363 (GRCh38)
5:148747926 (GRCh37)
Canonical SPDI:: NC_000005.10:149368362:C:G
Gene:: PCYOX1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000005.10:g.149368363C>G, NC_000005.9:g.148747926C>G, NM_024028.4:c.1194C>G, NM_024028.3:c.1194C>G, NM_001301054.2:c.1143C>G, NM_001301054.1:c.1143C>G, NM_001301057.2:c.966C>G, NM_001301057.1:c.966C>G, NM_001301055.1:c.1143C>G

Select item 146803196313.

rs1468031963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149364046 (GRCh38)
5:148743609 (GRCh37)
Canonical SPDI:: NC_000005.10:149364045:C:T
Gene:: PCYOX1L (Varview)
Functional Consequence:: synonymous_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_000005.10:g.149364046C>T, NC_000005.9:g.148743609C>T, NM_024028.4:c.306C>T, NM_024028.3:c.306C>T, NM_001301054.2:c.255C>T, NM_001301054.1:c.255C>T, NM_001301057.2:c.255C>T, NM_001301057.1:c.255C>T, NM_001301055.1:c.255C>T

Select item 146762862014.

rs1467628620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:149362806 (GRCh38)
5:148742369 (GRCh37)
Canonical SPDI:: NC_000005.10:149362805:C:G,NC_000005.10:149362805:C:T
Gene:: PCYOX1L (Varview)
Functional Consequence:: synonymous_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)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.149362806C>G, NC_000005.10:g.149362806C>T, NC_000005.9:g.148742369C>G, NC_000005.9:g.148742369C>T, NM_024028.4:c.258C>G, NM_024028.4:c.258C>T, NM_024028.3:c.258C>G, NM_024028.3:c.258C>T, NM_001301054.2:c.207C>G, NM_001301054.2:c.207C>T, NM_001301054.1:c.207C>G, NM_001301054.1:c.207C>T, NM_001301057.2:c.207C>G, NM_001301057.2:c.207C>T, NM_001301057.1:c.207C>G, NM_001301057.1:c.207C>T, NM_001301055.1:c.207C>G, NM_001301055.1:c.207C>T

Select item 146654159015.

rs1466541590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149362668 (GRCh38)
5:148742231 (GRCh37)
Canonical SPDI:: NC_000005.10:149362667:T:C
Gene:: PCYOX1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.149362668T>C, NC_000005.9:g.148742231T>C, NM_024028.4:c.120T>C, NM_024028.3:c.120T>C, NM_001301054.2:c.69T>C, NM_001301054.1:c.69T>C, NM_001301057.2:c.69T>C, NM_001301057.1:c.69T>C, NM_001301055.1:c.69T>C

Select item 145305542816.

rs1453055428 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149368451 (GRCh38)
5:148748014 (GRCh37)
Canonical SPDI:: NC_000005.10:149368450:T:C
Gene:: PCYOX1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.149368451T>C, NC_000005.9:g.148748014T>C, NM_024028.4:c.1282T>C, NM_024028.3:c.1282T>C, NM_001301054.2:c.1231T>C, NM_001301054.1:c.1231T>C, NM_001301057.2:c.1054T>C, NM_001301057.1:c.1054T>C, NM_001301055.1:c.1231T>C, NP_076933.3:p.Tyr428His, NP_001287983.1:p.Tyr411His, NP_001287986.1:p.Tyr352His

Select item 145026191317.

rs1450261913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:149368545 (GRCh38)
5:148748108 (GRCh37)
Canonical SPDI:: NC_000005.10:149368544:T:C,NC_000005.10:149368544:T:G
Gene:: PCYOX1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149368545T>C, NC_000005.10:g.149368545T>G, NC_000005.9:g.148748108T>C, NC_000005.9:g.148748108T>G, NM_024028.4:c.1376T>C, NM_024028.4:c.1376T>G, NM_024028.3:c.1376T>C, NM_024028.3:c.1376T>G, NM_001301054.2:c.1325T>C, NM_001301054.2:c.1325T>G, NM_001301054.1:c.1325T>C, NM_001301054.1:c.1325T>G, NM_001301057.2:c.1148T>C, NM_001301057.2:c.1148T>G, NM_001301057.1:c.1148T>C, NM_001301057.1:c.1148T>G, NM_001301055.1:c.1325T>C, NM_001301055.1:c.1325T>G, NP_076933.3:p.Met459Thr, NP_076933.3:p.Met459Arg, NP_001287983.1:p.Met442Thr, NP_001287983.1:p.Met442Arg, NP_001287986.1:p.Met383Thr, NP_001287986.1:p.Met383Arg

Select item 145003845418.

rs1450038454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149358140 (GRCh38)
5:148737703 (GRCh37)
Canonical SPDI:: NC_000005.10:149358139:C:T
Gene:: PCYOX1L (Varview), GRPEL2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000075/6 (GnomAD_exomes)
HGVS:: NC_000005.10:g.149358140C>T, NC_000005.9:g.148737703C>T, NG_074188.1:g.435C>T, NM_024028.4:c.72C>T, NM_024028.3:c.72C>T, NM_001301054.2:c.5C>T, NM_001301054.1:c.5C>T, NM_001301057.2:c.5C>T, NM_001301057.1:c.5C>T, NM_001301055.1:c.5C>T, NP_001287983.1:p.Pro2Leu, NP_001287986.1:p.Pro2Leu

Select item 144973608119.

rs1449736081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149358142 (GRCh38)
5:148737705 (GRCh37)
Canonical SPDI:: NC_000005.10:149358141:C:T
Gene:: PCYOX1L (Varview), GRPEL2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_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_000005.10:g.149358142C>T, NC_000005.9:g.148737705C>T, NG_074188.1:g.437C>T, NM_024028.4:c.74C>T, NM_024028.3:c.74C>T, NM_001301054.2:c.7C>T, NM_001301054.1:c.7C>T, NM_001301057.2:c.7C>T, NM_001301057.1:c.7C>T, NM_001301055.1:c.7C>T, NP_076933.3:p.Pro25Leu, NP_001287983.1:p.Arg3Cys, NP_001287986.1:p.Arg3Cys

Select item 144773528820.

rs1447735288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149367388 (GRCh38)
5:148746951 (GRCh37)
Canonical SPDI:: NC_000005.10:149367387:C:T
Gene:: PCYOX1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.149367388C>T, NC_000005.9:g.148746951C>T, NM_024028.4:c.711C>T, NM_024028.3:c.711C>T, NM_001301054.2:c.660C>T, NM_001301054.1:c.660C>T, NM_001301057.2:c.483C>T, NM_001301057.1:c.483C>T, NM_001301055.1:c.660C>T

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