SNP Links for Protein (Select 530386128) - SNP

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Links from Protein

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Select item 14842353251.

rs1484235325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:95412388 (GRCh38)
7:95041700 (GRCh37)
Canonical SPDI:: NC_000007.14:95412387:T:G
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.95412388T>G, NC_000007.13:g.95041700T>G, NG_008725.1:g.27685A>C, NM_000305.3:c.291A>C, NM_000305.2:c.291A>C, NM_001018161.2:c.291A>C, NM_001018161.1:c.291A>C, XM_017012357.3:c.81A>C, XM_017012357.2:c.81A>C, XM_017012357.1:c.81A>C, XM_005250453.2:c.87A>C, XM_005250453.1:c.87A>C

Select item 14830835372.

rs1483083537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:95406211 (GRCh38)
7:95035523 (GRCh37)
Canonical SPDI:: NC_000007.14:95406210:T:C
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.95406211T>C, NC_000007.13:g.95035523T>C, NG_008725.1:g.33862A>G, NM_000305.3:c.814A>G, NM_000305.2:c.814A>G, NM_001018161.2:c.778A>G, NM_001018161.1:c.778A>G, XM_017012357.3:c.604A>G, XM_017012357.2:c.604A>G, XM_017012357.1:c.604A>G, XM_005250453.2:c.610A>G, XM_005250453.1:c.610A>G, NP_000296.2:p.Ile272Val, NP_001018171.1:p.Ile260Val, XP_016867846.1:p.Ile202Val, XP_005250510.1:p.Ile204Val

Select item 14717383473.

rs1471738347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:95410058 (GRCh38)
7:95039370 (GRCh37)
Canonical SPDI:: NC_000007.14:95410057:T:C,NC_000007.14:95410057:T:G
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.95410058T>C, NC_000007.14:g.95410058T>G, NC_000007.13:g.95039370T>C, NC_000007.13:g.95039370T>G, NG_008725.1:g.30015A>G, NG_008725.1:g.30015A>C, NM_000305.3:c.538A>G, NM_000305.3:c.538A>C, NM_000305.2:c.538A>G, NM_000305.2:c.538A>C, NM_001018161.2:c.502A>G, NM_001018161.2:c.502A>C, NM_001018161.1:c.502A>G, NM_001018161.1:c.502A>C, XM_017012357.3:c.328A>G, XM_017012357.3:c.328A>C, XM_017012357.2:c.328A>G, XM_017012357.2:c.328A>C, XM_017012357.1:c.328A>G, XM_017012357.1:c.328A>C, XM_005250453.2:c.334A>G, XM_005250453.2:c.334A>C, XM_005250453.1:c.334A>G, XM_005250453.1:c.334A>C, NP_000296.2:p.Thr180Ala, NP_000296.2:p.Thr180Pro, NP_001018171.1:p.Thr168Ala, NP_001018171.1:p.Thr168Pro, XP_016867846.1:p.Thr110Ala, XP_016867846.1:p.Thr110Pro, XP_005250510.1:p.Thr112Ala, XP_005250510.1:p.Thr112Pro

Select item 14633005094.

rs1463300509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:95411671 (GRCh38)
7:95040983 (GRCh37)
Canonical SPDI:: NC_000007.14:95411670:T:A
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.95411671T>A, NC_000007.13:g.95040983T>A, NG_008725.1:g.28402A>T, NM_000305.3:c.476A>T, NM_000305.2:c.476A>T, NM_001018161.2:c.440A>T, NM_001018161.1:c.440A>T, XM_017012357.3:c.266A>T, XM_017012357.2:c.266A>T, XM_017012357.1:c.266A>T, XM_005250453.2:c.272A>T, XM_005250453.1:c.272A>T, NP_000296.2:p.Lys159Ile, NP_001018171.1:p.Lys147Ile, XP_016867846.1:p.Lys89Ile, XP_005250510.1:p.Lys91Ile

Select item 14544164945.

rs1454416494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:95412326 (GRCh38)
7:95041638 (GRCh37)
Canonical SPDI:: NC_000007.14:95412325:G:A,NC_000007.14:95412325:G:T
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.95412326G>A, NC_000007.14:g.95412326G>T, NC_000007.13:g.95041638G>A, NC_000007.13:g.95041638G>T, NG_008725.1:g.27747C>T, NG_008725.1:g.27747C>A, NM_000305.3:c.353C>T, NM_000305.3:c.353C>A, NM_000305.2:c.353C>T, NM_000305.2:c.353C>A, NM_001018161.2:c.353C>T, NM_001018161.2:c.353C>A, NM_001018161.1:c.353C>T, NM_001018161.1:c.353C>A, XM_017012357.3:c.143C>T, XM_017012357.3:c.143C>A, XM_017012357.2:c.143C>T, XM_017012357.2:c.143C>A, XM_017012357.1:c.143C>T, XM_017012357.1:c.143C>A, XM_005250453.2:c.149C>T, XM_005250453.2:c.149C>A, XM_005250453.1:c.149C>T, XM_005250453.1:c.149C>A, NP_000296.2:p.Thr118Ile, NP_000296.2:p.Thr118Asn, NP_001018171.1:p.Thr118Ile, NP_001018171.1:p.Thr118Asn, XP_016867846.1:p.Thr48Ile, XP_016867846.1:p.Thr48Asn, XP_005250510.1:p.Thr50Ile, XP_005250510.1:p.Thr50Asn

Select item 14505401426.

rs1450540142 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:95406121 (GRCh38)
7:95035433 (GRCh37)
Canonical SPDI:: NC_000007.14:95406118:CTCT:CT
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.95406119CT[1], NC_000007.13:g.95035431CT[1], NG_008725.1:g.33951AG[1], NM_000305.3:c.905_906del, NM_000305.2:c.905_906del, NM_001018161.2:c.869_870del, NM_001018161.1:c.869_870del, XM_017012357.3:c.695_696del, XM_017012357.2:c.695_696del, XM_017012357.1:c.695_696del, XM_005250453.2:c.701_702del, XM_005250453.1:c.701_702del, NP_000296.2:p.Glu302fs, NP_001018171.1:p.Glu290fs, XP_016867846.1:p.Glu232fs, XP_005250510.1:p.Glu234fs

Select item 14460316407.

rs1446031640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:95407063 (GRCh38)
7:95036375 (GRCh37)
Canonical SPDI:: NC_000007.14:95407062:A:C
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.95407063A>C, NC_000007.13:g.95036375A>C, NG_008725.1:g.33010T>G, NM_000305.3:c.701T>G, NM_000305.2:c.701T>G, NM_001018161.2:c.665T>G, NM_001018161.1:c.665T>G, XM_017012357.3:c.491T>G, XM_017012357.2:c.491T>G, XM_017012357.1:c.491T>G, XM_005250453.2:c.497T>G, XM_005250453.1:c.497T>G, NP_000296.2:p.Ile234Ser, NP_001018171.1:p.Ile222Ser, XP_016867846.1:p.Ile164Ser, XP_005250510.1:p.Ile166Ser

Select item 14402913338.

rs1440291333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:95405488 (GRCh38)
7:95034800 (GRCh37)
Canonical SPDI:: NC_000007.14:95405487:C:A
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.95405488C>A, NC_000007.13:g.95034800C>A, NG_008725.1:g.34585G>T, NM_000305.3:c.907G>T, NM_000305.2:c.907G>T, NM_001018161.2:c.871G>T, NM_001018161.1:c.871G>T, XM_017012357.3:c.697G>T, XM_017012357.2:c.697G>T, XM_017012357.1:c.697G>T, XM_005250453.2:c.703G>T, XM_005250453.1:c.703G>T, NP_000296.2:p.Val303Phe, NP_001018171.1:p.Val291Phe, XP_016867846.1:p.Val233Phe, XP_005250510.1:p.Val235Phe

Select item 14348101949.

rs1434810194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:95411686 (GRCh38)
7:95040998 (GRCh37)
Canonical SPDI:: NC_000007.14:95411685:T:C
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.95411686T>C, NC_000007.13:g.95040998T>C, NG_008725.1:g.28387A>G, NM_000305.3:c.461A>G, NM_000305.2:c.461A>G, NM_001018161.2:c.425A>G, NM_001018161.1:c.425A>G, XM_017012357.3:c.251A>G, XM_017012357.2:c.251A>G, XM_017012357.1:c.251A>G, XM_005250453.2:c.257A>G, XM_005250453.1:c.257A>G, NP_000296.2:p.His154Arg, NP_001018171.1:p.His142Arg, XP_016867846.1:p.His84Arg, XP_005250510.1:p.His86Arg

Select item 143014123610.

rs1430141236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:95412319 (GRCh38)
7:95041631 (GRCh37)
Canonical SPDI:: NC_000007.14:95412318:T:C
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.95412319T>C, NC_000007.13:g.95041631T>C, NG_008725.1:g.27754A>G, NM_000305.3:c.360A>G, NM_000305.2:c.360A>G, NM_001018161.2:c.360A>G, NM_001018161.1:c.360A>G, XM_017012357.3:c.150A>G, XM_017012357.2:c.150A>G, XM_017012357.1:c.150A>G, XM_005250453.2:c.156A>G, XM_005250453.1:c.156A>G, NP_000296.2:p.Ile120Met, NP_001018171.1:p.Ile120Met, XP_016867846.1:p.Ile50Met, XP_005250510.1:p.Ile52Met

Select item 142154180211.

rs1421541802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:95409929 (GRCh38)
7:95039241 (GRCh37)
Canonical SPDI:: NC_000007.14:95409928:T:G
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.95409929T>G, NC_000007.13:g.95039241T>G, NG_008725.1:g.30144A>C, NM_000305.3:c.667A>C, NM_000305.2:c.667A>C, NM_001018161.2:c.631A>C, NM_001018161.1:c.631A>C, XM_017012357.3:c.457A>C, XM_017012357.2:c.457A>C, XM_017012357.1:c.457A>C, XM_005250453.2:c.463A>C, XM_005250453.1:c.463A>C, NP_000296.2:p.Asn223His, NP_001018171.1:p.Asn211His, XP_016867846.1:p.Asn153His, XP_005250510.1:p.Asn155His

Select item 141802798212.

rs1418027982 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:95406215 (GRCh38)
7:95035527 (GRCh37)
Canonical SPDI:: NC_000007.14:95406214:T:C
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.95406215T>C, NC_000007.13:g.95035527T>C, NG_008725.1:g.33858A>G, NM_000305.3:c.810A>G, NM_000305.2:c.810A>G, NM_001018161.2:c.774A>G, NM_001018161.1:c.774A>G, XM_017012357.3:c.600A>G, XM_017012357.2:c.600A>G, XM_017012357.1:c.600A>G, XM_005250453.2:c.606A>G, XM_005250453.1:c.606A>G

Select item 141749475013.

rs1417494750 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:95412398 (GRCh38)
7:95041710 (GRCh37)
Canonical SPDI:: NC_000007.14:95412397:T:C
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.95412398T>C, NC_000007.13:g.95041710T>C, NG_008725.1:g.27675A>G, NM_000305.3:c.281A>G, NM_000305.2:c.281A>G, NM_001018161.2:c.281A>G, NM_001018161.1:c.281A>G, XM_017012357.3:c.71A>G, XM_017012357.2:c.71A>G, XM_017012357.1:c.71A>G, XM_005250453.2:c.77A>G, XM_005250453.1:c.77A>G, NP_000296.2:p.Lys94Arg, NP_001018171.1:p.Lys94Arg, XP_016867846.1:p.Lys24Arg, XP_005250510.1:p.Lys26Arg

Select item 141540957614.

rs1415409576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:95409907 (GRCh38)
7:95039219 (GRCh37)
Canonical SPDI:: NC_000007.14:95409906:T:A
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.95409907T>A, NC_000007.13:g.95039219T>A, NG_008725.1:g.30166A>T, NM_000305.3:c.689A>T, NM_000305.2:c.689A>T, NM_001018161.2:c.653A>T, NM_001018161.1:c.653A>T, XM_017012357.3:c.479A>T, XM_017012357.2:c.479A>T, XM_017012357.1:c.479A>T, XM_005250453.2:c.485A>T, XM_005250453.1:c.485A>T, NP_000296.2:p.Asp230Val, NP_001018171.1:p.Asp218Val, XP_016867846.1:p.Asp160Val, XP_005250510.1:p.Asp162Val

Select item 140965253715.

rs1409652537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:95412352 (GRCh38)
7:95041664 (GRCh37)
Canonical SPDI:: NC_000007.14:95412351:G:A
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.95412352G>A, NC_000007.13:g.95041664G>A, NG_008725.1:g.27721C>T, NM_000305.3:c.327C>T, NM_000305.2:c.327C>T, NM_001018161.2:c.327C>T, NM_001018161.1:c.327C>T, XM_017012357.3:c.117C>T, XM_017012357.2:c.117C>T, XM_017012357.1:c.117C>T, XM_005250453.2:c.123C>T, XM_005250453.1:c.123C>T

Select item 140888626616.

rs1408886266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:95407030 (GRCh38)
7:95036342 (GRCh37)
Canonical SPDI:: NC_000007.14:95407029:T:G
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.95407030T>G, NC_000007.13:g.95036342T>G, NG_008725.1:g.33043A>C, NM_000305.3:c.734A>C, NM_000305.2:c.734A>C, NM_001018161.2:c.698A>C, NM_001018161.1:c.698A>C, XM_017012357.3:c.524A>C, XM_017012357.2:c.524A>C, XM_017012357.1:c.524A>C, XM_005250453.2:c.530A>C, XM_005250453.1:c.530A>C, NP_000296.2:p.His245Pro, NP_001018171.1:p.His233Pro, XP_016867846.1:p.His175Pro, XP_005250510.1:p.His177Pro

Select item 140705444017.

rs1407054440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:95405341 (GRCh38)
7:95034653 (GRCh37)
Canonical SPDI:: NC_000007.14:95405340:A:G
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.95405341A>G, NC_000007.13:g.95034653A>G, NG_008725.1:g.34732T>C, NM_000305.3:c.1054T>C, NM_000305.2:c.1054T>C, NM_001018161.2:c.1018T>C, NM_001018161.1:c.1018T>C, XM_017012357.3:c.844T>C, XM_017012357.2:c.844T>C, XM_017012357.1:c.844T>C, XM_005250453.2:c.850T>C, XM_005250453.1:c.850T>C, NP_000296.2:p.Cys352Arg, NP_001018171.1:p.Cys340Arg, XP_016867846.1:p.Cys282Arg, XP_005250510.1:p.Cys284Arg

Select item 140584447218.

rs1405844472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:95410016 (GRCh38)
7:95039328 (GRCh37)
Canonical SPDI:: NC_000007.14:95410015:C:T
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_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_000007.14:g.95410016C>T, NC_000007.13:g.95039328C>T, NG_008725.1:g.30057G>A, NM_000305.3:c.580G>A, NM_000305.2:c.580G>A, NM_001018161.2:c.544G>A, NM_001018161.1:c.544G>A, XM_017012357.3:c.370G>A, XM_017012357.2:c.370G>A, XM_017012357.1:c.370G>A, XM_005250453.2:c.376G>A, XM_005250453.1:c.376G>A, NP_000296.2:p.Glu194Lys, NP_001018171.1:p.Glu182Lys, XP_016867846.1:p.Glu124Lys, XP_005250510.1:p.Glu126Lys

Select item 140099931519.

rs1400999315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:95410092 (GRCh38)
7:95039404 (GRCh37)
Canonical SPDI:: NC_000007.14:95410091:G:A
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000045/2 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.95410092G>A, NC_000007.13:g.95039404G>A, NG_008725.1:g.29981C>T, NM_000305.3:c.504C>T, NM_000305.2:c.504C>T, NM_001018161.2:c.468C>T, NM_001018161.1:c.468C>T, XM_017012357.3:c.294C>T, XM_017012357.2:c.294C>T, XM_017012357.1:c.294C>T, XM_005250453.2:c.300C>T, XM_005250453.1:c.300C>T

Select item 139958050120.

rs1399580501 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:95405446 (GRCh38)
7:95034758 (GRCh37)
Canonical SPDI:: NC_000007.14:95405445:T:G
Gene:: PON2 (Varview), LOC107986822 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.95405446T>G, NC_000007.13:g.95034758T>G, NG_008725.1:g.34627A>C, NM_000305.3:c.949A>C, NM_000305.2:c.949A>C, NM_001018161.2:c.913A>C, NM_001018161.1:c.913A>C, XM_017012357.3:c.739A>C, XM_017012357.2:c.739A>C, XM_017012357.1:c.739A>C, XM_005250453.2:c.745A>C, XM_005250453.1:c.745A>C, NP_000296.2:p.Thr317Pro, NP_001018171.1:p.Thr305Pro, XP_016867846.1:p.Thr247Pro, XP_005250510.1:p.Thr249Pro

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