SNP Links for Protein (Select 1034559897) - SNP

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Links from Protein

Items: 1 to 20 of 96

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Select item 14889016591.

rs1488901659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:23961794 (GRCh38)
1:24288284 (GRCh37)
Canonical SPDI:: NC_000001.11:23961793:C:T
Gene:: PNRC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.23961794C>T, NC_000001.10:g.24288284C>T, NM_017761.4:c.337C>T, NM_017761.3:c.337C>T, XM_017001691.1:c.337C>T, NP_060231.1:p.His113Tyr, XP_016857180.1:p.His113Tyr

Select item 14888220442.

rs1488822044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:23961696 (GRCh38)
1:24288186 (GRCh37)
Canonical SPDI:: NC_000001.11:23961695:G:A
Gene:: PNRC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000024/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23961696G>A, NC_000001.10:g.24288186G>A, NM_017761.4:c.239G>A, NM_017761.3:c.239G>A, XM_017001691.1:c.239G>A, NP_060231.1:p.Gly80Asp, XP_016857180.1:p.Gly80Asp

Select item 14859980563.

rs1485998056 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGA>- [Show Flanks]
Chromosome:: 1:23961589 (GRCh38)
1:24288079 (GRCh37)
Canonical SPDI:: NC_000001.11:23961583:AAAGAAAGA:AAAGA
Gene:: PNRC2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.23961585AAGA[1], NC_000001.10:g.24288075AAGA[1], NM_017761.4:c.132_135del, NM_017761.3:c.132_135del, XM_017001691.1:c.132_135del, NP_060231.1:p.Arg45fs, XP_016857180.1:p.Arg45fs

Select item 14815447724.

rs1481544772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:23961679 (GRCh38)
1:24288169 (GRCh37)
Canonical SPDI:: NC_000001.11:23961678:G:T
Gene:: PNRC2 (Varview)
Functional Consequence:: 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_000001.11:g.23961679G>T, NC_000001.10:g.24288169G>T, NM_017761.4:c.222G>T, NM_017761.3:c.222G>T, XM_017001691.1:c.222G>T, NP_060231.1:p.Trp74Cys, XP_016857180.1:p.Trp74Cys

Select item 14693705975.

rs1469370597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:23961600 (GRCh38)
1:24288090 (GRCh37)
Canonical SPDI:: NC_000001.11:23961599:G:A
Gene:: PNRC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.23961600G>A, NC_000001.10:g.24288090G>A, NM_017761.4:c.143G>A, NM_017761.3:c.143G>A, XM_017001691.1:c.143G>A, NP_060231.1:p.Gly48Asp, XP_016857180.1:p.Gly48Asp

Select item 14625673076.

rs1462567307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:23961570 (GRCh38)
1:24288060 (GRCh37)
Canonical SPDI:: NC_000001.11:23961569:T:C
Gene:: PNRC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.23961570T>C, NC_000001.10:g.24288060T>C, NM_017761.4:c.113T>C, NM_017761.3:c.113T>C, XM_017001691.1:c.113T>C, NP_060231.1:p.Ile38Thr, XP_016857180.1:p.Ile38Thr

Select item 14539436737.

rs1453943673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:23961610 (GRCh38)
1:24288100 (GRCh37)
Canonical SPDI:: NC_000001.11:23961609:A:G
Gene:: PNRC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.23961610A>G, NC_000001.10:g.24288100A>G, NM_017761.4:c.153A>G, NM_017761.3:c.153A>G, XM_017001691.1:c.153A>G

Select item 14519741678.

rs1451974167 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:23961510 (GRCh38)
1:24288001 (GRCh37)
Canonical SPDI:: NC_000001.11:23961510:T:TT
Gene:: PNRC2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.23961511dup, NC_000001.10:g.24288001dup, NM_017761.4:c.54dup, NM_017761.3:c.54dup, XM_017001691.1:c.54dup, NP_060231.1:p.Lys19Ter, XP_016857180.1:p.Lys19Ter

Select item 14342217449.

rs1434221744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:23961524 (GRCh38)
1:24288014 (GRCh37)
Canonical SPDI:: NC_000001.11:23961523:C:T
Gene:: PNRC2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.23961524C>T, NC_000001.10:g.24288014C>T, NM_017761.4:c.67C>T, NM_017761.3:c.67C>T, XM_017001691.1:c.67C>T, NP_060231.1:p.Gln23Ter, XP_016857180.1:p.Gln23Ter

Select item 143267269610.

rs1432672696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:23961709 (GRCh38)
1:24288199 (GRCh37)
Canonical SPDI:: NC_000001.11:23961708:T:G
Gene:: PNRC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00002/1 (GnomAD_exomes)
G=0.00014/2 (TOMMO)
G=0.00068/2 (KOREAN)
HGVS:: NC_000001.11:g.23961709T>G, NC_000001.10:g.24288199T>G, NM_017761.4:c.252T>G, NM_017761.3:c.252T>G, XM_017001691.1:c.252T>G

Select item 143086531611.

rs1430865316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:23961821 (GRCh38)
1:24288311 (GRCh37)
Canonical SPDI:: NC_000001.11:23961820:T:C
Gene:: PNRC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.23961821T>C, NC_000001.10:g.24288311T>C, NM_017761.4:c.364T>C, NM_017761.3:c.364T>C, XM_017001691.1:c.364T>C, NP_060231.1:p.Ser122Pro, XP_016857180.1:p.Ser122Pro

Select item 142951600912.

rs1429516009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:23961869 (GRCh38)
1:24288359 (GRCh37)
Canonical SPDI:: NC_000001.11:23961868:C:T
Gene:: PNRC2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.23961869C>T, NC_000001.10:g.24288359C>T, NM_017761.4:c.412C>T, NM_017761.3:c.412C>T, XM_017001691.1:c.412C>T, NP_060231.1:p.Gln138Ter, XP_016857180.1:p.Gln138Ter

Select item 142720426813.

rs1427204268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:23961599 (GRCh38)
1:24288089 (GRCh37)
Canonical SPDI:: NC_000001.11:23961598:G:A
Gene:: PNRC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00005/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23961599G>A, NC_000001.10:g.24288089G>A, NM_017761.4:c.142G>A, NM_017761.3:c.142G>A, XM_017001691.1:c.142G>A, NP_060231.1:p.Gly48Ser, XP_016857180.1:p.Gly48Ser

Select item 142166780014.

rs1421667800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:23961465 (GRCh38)
1:24287955 (GRCh37)
Canonical SPDI:: NC_000001.11:23961464:G:A
Gene:: PNRC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.23961465G>A, NC_000001.10:g.24287955G>A, NM_017761.4:c.8G>A, NM_017761.3:c.8G>A, XM_017001691.1:c.8G>A, NP_060231.1:p.Gly3Asp, XP_016857180.1:p.Gly3Asp

Select item 142009617015.

rs1420096170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:23961830 (GRCh38)
1:24288320 (GRCh37)
Canonical SPDI:: NC_000001.11:23961829:G:C
Gene:: PNRC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000053/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23961830G>C, NC_000001.10:g.24288320G>C, NM_017761.4:c.373G>C, NM_017761.3:c.373G>C, XM_017001691.1:c.373G>C, NP_060231.1:p.Glu125Gln, XP_016857180.1:p.Glu125Gln

Select item 140291097016.

rs1402910970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:23961611 (GRCh38)
1:24288101 (GRCh37)
Canonical SPDI:: NC_000001.11:23961610:T:G
Gene:: PNRC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000015/4 (TOPMED)
G=0.000097/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.23961611T>G, NC_000001.10:g.24288101T>G, NM_017761.4:c.154T>G, NM_017761.3:c.154T>G, XM_017001691.1:c.154T>G, NP_060231.1:p.Ser52Ala, XP_016857180.1:p.Ser52Ala

Select item 139702283717.

rs1397022837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:23961695 (GRCh38)
1:24288185 (GRCh37)
Canonical SPDI:: NC_000001.11:23961694:G:A
Gene:: PNRC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.23961695G>A, NC_000001.10:g.24288185G>A, NM_017761.4:c.238G>A, NM_017761.3:c.238G>A, XM_017001691.1:c.238G>A, NP_060231.1:p.Gly80Ser, XP_016857180.1:p.Gly80Ser