SNP Links for Protein (Select 1050115305) - SNP

Select item 14902430841.

rs1490243084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66885461 (GRCh38)
16:66919364 (GRCh37)
Canonical SPDI:: NC_000016.10:66885460:C:T
Gene:: PDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66885461C>T, NC_000016.9:g.66919364C>T, NG_051332.2:g.10101C>T, NM_020786.4:c.1177C>T, NM_020786.3:c.1177C>T, NM_020786.2:c.1177C>T, NM_001329933.2:c.1177C>T, NM_001329933.1:c.1177C>T, NM_001329931.2:c.1177C>T, NM_001329931.1:c.1177C>T, NM_001329930.2:c.1177C>T, NM_001329930.1:c.1177C>T, NM_001329928.2:c.1177C>T, NM_001329928.1:c.1177C>T, NM_001329932.2:c.1177C>T, NM_001329932.1:c.1177C>T, NM_001329929.2:c.1177C>T, NM_001329929.1:c.1177C>T, NM_001329934.2:c.1177C>T, NM_001329934.1:c.1177C>T, NP_065837.1:p.Pro393Ser, NP_001316862.1:p.Pro393Ser, NP_001316860.1:p.Pro393Ser, NP_001316859.1:p.Pro393Ser, NP_001316857.1:p.Pro393Ser, NP_001316861.1:p.Pro393Ser, NP_001316858.1:p.Pro393Ser, NP_001316863.1:p.Pro393Ser

Select item 14897601462.

rs1489760146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66885454 (GRCh38)
16:66919357 (GRCh37)
Canonical SPDI:: NC_000016.10:66885453:T:C
Gene:: PDP2 (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_000016.10:g.66885454T>C, NC_000016.9:g.66919357T>C, NG_051332.2:g.10094T>C, NM_020786.4:c.1170T>C, NM_020786.3:c.1170T>C, NM_020786.2:c.1170T>C, NM_001329933.2:c.1170T>C, NM_001329933.1:c.1170T>C, NM_001329931.2:c.1170T>C, NM_001329931.1:c.1170T>C, NM_001329930.2:c.1170T>C, NM_001329930.1:c.1170T>C, NM_001329928.2:c.1170T>C, NM_001329928.1:c.1170T>C, NM_001329932.2:c.1170T>C, NM_001329932.1:c.1170T>C, NM_001329929.2:c.1170T>C, NM_001329929.1:c.1170T>C, NM_001329934.2:c.1170T>C, NM_001329934.1:c.1170T>C

Select item 14894305363.

rs1489430536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66884815 (GRCh38)
16:66918718 (GRCh37)
Canonical SPDI:: NC_000016.10:66884814:G:A
Gene:: PDP2 (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=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.66884815G>A, NC_000016.9:g.66918718G>A, NG_051332.2:g.9455G>A, NM_020786.4:c.531G>A, NM_020786.3:c.531G>A, NM_020786.2:c.531G>A, NM_001329933.2:c.531G>A, NM_001329933.1:c.531G>A, NM_001329931.2:c.531G>A, NM_001329931.1:c.531G>A, NM_001329930.2:c.531G>A, NM_001329930.1:c.531G>A, NM_001329928.2:c.531G>A, NM_001329928.1:c.531G>A, NM_001329932.2:c.531G>A, NM_001329932.1:c.531G>A, NM_001329929.2:c.531G>A, NM_001329929.1:c.531G>A, NM_001329934.2:c.531G>A, NM_001329934.1:c.531G>A, NP_065837.1:p.Met177Ile, NP_001316862.1:p.Met177Ile, NP_001316860.1:p.Met177Ile, NP_001316859.1:p.Met177Ile, NP_001316857.1:p.Met177Ile, NP_001316861.1:p.Met177Ile, NP_001316858.1:p.Met177Ile, NP_001316863.1:p.Met177Ile

Select item 14892658804.

rs1489265880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:66885649 (GRCh38)
16:66919552 (GRCh37)
Canonical SPDI:: NC_000016.10:66885648:G:A,NC_000016.10:66885648:G:C
Gene:: PDP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66885649G>A, NC_000016.10:g.66885649G>C, NC_000016.9:g.66919552G>A, NC_000016.9:g.66919552G>C, NG_051332.2:g.10289G>A, NG_051332.2:g.10289G>C, NM_020786.4:c.1365G>A, NM_020786.4:c.1365G>C, NM_020786.3:c.1365G>A, NM_020786.3:c.1365G>C, NM_020786.2:c.1365G>A, NM_020786.2:c.1365G>C, NM_001329933.2:c.1365G>A, NM_001329933.2:c.1365G>C, NM_001329933.1:c.1365G>A, NM_001329933.1:c.1365G>C, NM_001329931.2:c.1365G>A, NM_001329931.2:c.1365G>C, NM_001329931.1:c.1365G>A, NM_001329931.1:c.1365G>C, NM_001329930.2:c.1365G>A, NM_001329930.2:c.1365G>C, NM_001329930.1:c.1365G>A, NM_001329930.1:c.1365G>C, NM_001329928.2:c.1365G>A, NM_001329928.2:c.1365G>C, NM_001329928.1:c.1365G>A, NM_001329928.1:c.1365G>C, NM_001329932.2:c.1365G>A, NM_001329932.2:c.1365G>C, NM_001329932.1:c.1365G>A, NM_001329932.1:c.1365G>C, NM_001329929.2:c.1365G>A, NM_001329929.2:c.1365G>C, NM_001329929.1:c.1365G>A, NM_001329929.1:c.1365G>C, NM_001329934.2:c.1365G>A, NM_001329934.2:c.1365G>C, NM_001329934.1:c.1365G>A, NM_001329934.1:c.1365G>C

Select item 14838601265.

rs1483860126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:66884495 (GRCh38)
16:66918398 (GRCh37)
Canonical SPDI:: NC_000016.10:66884494:G:T
Gene:: PDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.66884495G>T, NC_000016.9:g.66918398G>T, NG_051332.2:g.9135G>T, NM_020786.4:c.211G>T, NM_020786.3:c.211G>T, NM_020786.2:c.211G>T, NM_001329933.2:c.211G>T, NM_001329933.1:c.211G>T, NM_001329931.2:c.211G>T, NM_001329931.1:c.211G>T, NM_001329930.2:c.211G>T, NM_001329930.1:c.211G>T, NM_001329928.2:c.211G>T, NM_001329928.1:c.211G>T, NM_001329932.2:c.211G>T, NM_001329932.1:c.211G>T, NM_001329929.2:c.211G>T, NM_001329929.1:c.211G>T, NM_001329934.2:c.211G>T, NM_001329934.1:c.211G>T, NP_065837.1:p.Asp71Tyr, NP_001316862.1:p.Asp71Tyr, NP_001316860.1:p.Asp71Tyr, NP_001316859.1:p.Asp71Tyr, NP_001316857.1:p.Asp71Tyr, NP_001316861.1:p.Asp71Tyr, NP_001316858.1:p.Asp71Tyr, NP_001316863.1:p.Asp71Tyr

Select item 14828750116.

rs1482875011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66884292 (GRCh38)
16:66918195 (GRCh37)
Canonical SPDI:: NC_000016.10:66884291:G:A
Gene:: PDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66884292G>A, NC_000016.9:g.66918195G>A, NG_051332.2:g.8932G>A, NM_020786.4:c.8G>A, NM_020786.3:c.8G>A, NM_020786.2:c.8G>A, NM_001329933.2:c.8G>A, NM_001329933.1:c.8G>A, NM_001329931.2:c.8G>A, NM_001329931.1:c.8G>A, NM_001329930.2:c.8G>A, NM_001329930.1:c.8G>A, NM_001329928.2:c.8G>A, NM_001329928.1:c.8G>A, NM_001329932.2:c.8G>A, NM_001329932.1:c.8G>A, NM_001329929.2:c.8G>A, NM_001329929.1:c.8G>A, NM_001329934.2:c.8G>A, NM_001329934.1:c.8G>A, NP_065837.1:p.Ser3Asn, NP_001316862.1:p.Ser3Asn, NP_001316860.1:p.Ser3Asn, NP_001316859.1:p.Ser3Asn, NP_001316857.1:p.Ser3Asn, NP_001316861.1:p.Ser3Asn, NP_001316858.1:p.Ser3Asn, NP_001316863.1:p.Ser3Asn

Select item 14824467007.

rs1482446700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66884640 (GRCh38)
16:66918543 (GRCh37)
Canonical SPDI:: NC_000016.10:66884639:C:T
Gene:: PDP2 (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_000016.10:g.66884640C>T, NC_000016.9:g.66918543C>T, NG_051332.2:g.9280C>T, NM_020786.4:c.356C>T, NM_020786.3:c.356C>T, NM_020786.2:c.356C>T, NM_001329933.2:c.356C>T, NM_001329933.1:c.356C>T, NM_001329931.2:c.356C>T, NM_001329931.1:c.356C>T, NM_001329930.2:c.356C>T, NM_001329930.1:c.356C>T, NM_001329928.2:c.356C>T, NM_001329928.1:c.356C>T, NM_001329932.2:c.356C>T, NM_001329932.1:c.356C>T, NM_001329929.2:c.356C>T, NM_001329929.1:c.356C>T, NM_001329934.2:c.356C>T, NM_001329934.1:c.356C>T, NP_065837.1:p.Pro119Leu, NP_001316862.1:p.Pro119Leu, NP_001316860.1:p.Pro119Leu, NP_001316859.1:p.Pro119Leu, NP_001316857.1:p.Pro119Leu, NP_001316861.1:p.Pro119Leu, NP_001316858.1:p.Pro119Leu, NP_001316863.1:p.Pro119Leu

Select item 14807887438.

rs1480788743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66885852 (GRCh38)
16:66919755 (GRCh37)
Canonical SPDI:: NC_000016.10:66885851:G:A
Gene:: PDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66885852G>A, NC_000016.9:g.66919755G>A, NG_051332.2:g.10492G>A, NM_020786.4:c.1568G>A, NM_020786.3:c.1568G>A, NM_020786.2:c.1568G>A, NM_001329933.2:c.1568G>A, NM_001329933.1:c.1568G>A, NM_001329931.2:c.1568G>A, NM_001329931.1:c.1568G>A, NM_001329930.2:c.1568G>A, NM_001329930.1:c.1568G>A, NM_001329928.2:c.1568G>A, NM_001329928.1:c.1568G>A, NM_001329932.2:c.1568G>A, NM_001329932.1:c.1568G>A, NM_001329929.2:c.1568G>A, NM_001329929.1:c.1568G>A, NM_001329934.2:c.1568G>A, NM_001329934.1:c.1568G>A, NP_065837.1:p.Gly523Asp, NP_001316862.1:p.Gly523Asp, NP_001316860.1:p.Gly523Asp, NP_001316859.1:p.Gly523Asp, NP_001316857.1:p.Gly523Asp, NP_001316861.1:p.Gly523Asp, NP_001316858.1:p.Gly523Asp, NP_001316863.1:p.Gly523Asp

Select item 14790129699.

rs1479012969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66884935 (GRCh38)
16:66918838 (GRCh37)
Canonical SPDI:: NC_000016.10:66884934:T:C
Gene:: PDP2 (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_000016.10:g.66884935T>C, NC_000016.9:g.66918838T>C, NG_051332.2:g.9575T>C, NM_020786.4:c.651T>C, NM_020786.3:c.651T>C, NM_020786.2:c.651T>C, NM_001329933.2:c.651T>C, NM_001329933.1:c.651T>C, NM_001329931.2:c.651T>C, NM_001329931.1:c.651T>C, NM_001329930.2:c.651T>C, NM_001329930.1:c.651T>C, NM_001329928.2:c.651T>C, NM_001329928.1:c.651T>C, NM_001329932.2:c.651T>C, NM_001329932.1:c.651T>C, NM_001329929.2:c.651T>C, NM_001329929.1:c.651T>C, NM_001329934.2:c.651T>C, NM_001329934.1:c.651T>C

Select item 147894285010.

rs1478942850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66885432 (GRCh38)
16:66919335 (GRCh37)
Canonical SPDI:: NC_000016.10:66885431:A:G
Gene:: PDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66885432A>G, NC_000016.9:g.66919335A>G, NG_051332.2:g.10072A>G, NM_020786.4:c.1148A>G, NM_020786.3:c.1148A>G, NM_020786.2:c.1148A>G, NM_001329933.2:c.1148A>G, NM_001329933.1:c.1148A>G, NM_001329931.2:c.1148A>G, NM_001329931.1:c.1148A>G, NM_001329930.2:c.1148A>G, NM_001329930.1:c.1148A>G, NM_001329928.2:c.1148A>G, NM_001329928.1:c.1148A>G, NM_001329932.2:c.1148A>G, NM_001329932.1:c.1148A>G, NM_001329929.2:c.1148A>G, NM_001329929.1:c.1148A>G, NM_001329934.2:c.1148A>G, NM_001329934.1:c.1148A>G, NP_065837.1:p.Tyr383Cys, NP_001316862.1:p.Tyr383Cys, NP_001316860.1:p.Tyr383Cys, NP_001316859.1:p.Tyr383Cys, NP_001316857.1:p.Tyr383Cys, NP_001316861.1:p.Tyr383Cys, NP_001316858.1:p.Tyr383Cys, NP_001316863.1:p.Tyr383Cys

Select item 147841596111.

rs1478415961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:66884482 (GRCh38)
16:66918385 (GRCh37)
Canonical SPDI:: NC_000016.10:66884481:A:G,NC_000016.10:66884481:A:T
Gene:: PDP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66884482A>G, NC_000016.10:g.66884482A>T, NC_000016.9:g.66918385A>G, NC_000016.9:g.66918385A>T, NG_051332.2:g.9122A>G, NG_051332.2:g.9122A>T, NM_020786.4:c.198A>G, NM_020786.4:c.198A>T, NM_020786.3:c.198A>G, NM_020786.3:c.198A>T, NM_020786.2:c.198A>G, NM_020786.2:c.198A>T, NM_001329933.2:c.198A>G, NM_001329933.2:c.198A>T, NM_001329933.1:c.198A>G, NM_001329933.1:c.198A>T, NM_001329931.2:c.198A>G, NM_001329931.2:c.198A>T, NM_001329931.1:c.198A>G, NM_001329931.1:c.198A>T, NM_001329930.2:c.198A>G, NM_001329930.2:c.198A>T, NM_001329930.1:c.198A>G, NM_001329930.1:c.198A>T, NM_001329928.2:c.198A>G, NM_001329928.2:c.198A>T, NM_001329928.1:c.198A>G, NM_001329928.1:c.198A>T, NM_001329932.2:c.198A>G, NM_001329932.2:c.198A>T, NM_001329932.1:c.198A>G, NM_001329932.1:c.198A>T, NM_001329929.2:c.198A>G, NM_001329929.2:c.198A>T, NM_001329929.1:c.198A>G, NM_001329929.1:c.198A>T, NM_001329934.2:c.198A>G, NM_001329934.2:c.198A>T, NM_001329934.1:c.198A>G, NM_001329934.1:c.198A>T

Select item 147836506612.

rs1478365066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66884736 (GRCh38)
16:66918639 (GRCh37)
Canonical SPDI:: NC_000016.10:66884735:C:T
Gene:: PDP2 (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=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66884736C>T, NC_000016.9:g.66918639C>T, NG_051332.2:g.9376C>T, NM_020786.4:c.452C>T, NM_020786.3:c.452C>T, NM_020786.2:c.452C>T, NM_001329933.2:c.452C>T, NM_001329933.1:c.452C>T, NM_001329931.2:c.452C>T, NM_001329931.1:c.452C>T, NM_001329930.2:c.452C>T, NM_001329930.1:c.452C>T, NM_001329928.2:c.452C>T, NM_001329928.1:c.452C>T, NM_001329932.2:c.452C>T, NM_001329932.1:c.452C>T, NM_001329929.2:c.452C>T, NM_001329929.1:c.452C>T, NM_001329934.2:c.452C>T, NM_001329934.1:c.452C>T, NP_065837.1:p.Ala151Val, NP_001316862.1:p.Ala151Val, NP_001316860.1:p.Ala151Val, NP_001316859.1:p.Ala151Val, NP_001316857.1:p.Ala151Val, NP_001316861.1:p.Ala151Val, NP_001316858.1:p.Ala151Val, NP_001316863.1:p.Ala151Val

Select item 147776173013.

rs1477761730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66885175 (GRCh38)
16:66919078 (GRCh37)
Canonical SPDI:: NC_000016.10:66885174:T:C
Gene:: PDP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66885175T>C, NC_000016.9:g.66919078T>C, NG_051332.2:g.9815T>C, NM_020786.4:c.891T>C, NM_020786.3:c.891T>C, NM_020786.2:c.891T>C, NM_001329933.2:c.891T>C, NM_001329933.1:c.891T>C, NM_001329931.2:c.891T>C, NM_001329931.1:c.891T>C, NM_001329930.2:c.891T>C, NM_001329930.1:c.891T>C, NM_001329928.2:c.891T>C, NM_001329928.1:c.891T>C, NM_001329932.2:c.891T>C, NM_001329932.1:c.891T>C, NM_001329929.2:c.891T>C, NM_001329929.1:c.891T>C, NM_001329934.2:c.891T>C, NM_001329934.1:c.891T>C

Select item 146978104814.

rs1469781048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66885103 (GRCh38)
16:66919006 (GRCh37)
Canonical SPDI:: NC_000016.10:66885102:T:C
Gene:: PDP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66885103T>C, NC_000016.9:g.66919006T>C, NG_051332.2:g.9743T>C, NM_020786.4:c.819T>C, NM_020786.3:c.819T>C, NM_020786.2:c.819T>C, NM_001329933.2:c.819T>C, NM_001329933.1:c.819T>C, NM_001329931.2:c.819T>C, NM_001329931.1:c.819T>C, NM_001329930.2:c.819T>C, NM_001329930.1:c.819T>C, NM_001329928.2:c.819T>C, NM_001329928.1:c.819T>C, NM_001329932.2:c.819T>C, NM_001329932.1:c.819T>C, NM_001329929.2:c.819T>C, NM_001329929.1:c.819T>C, NM_001329934.2:c.819T>C, NM_001329934.1:c.819T>C

Select item 146962840815.

rs1469628408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66885474 (GRCh38)
16:66919377 (GRCh37)
Canonical SPDI:: NC_000016.10:66885473:A:G
Gene:: PDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66885474A>G, NC_000016.9:g.66919377A>G, NG_051332.2:g.10114A>G, NM_020786.4:c.1190A>G, NM_020786.3:c.1190A>G, NM_020786.2:c.1190A>G, NM_001329933.2:c.1190A>G, NM_001329933.1:c.1190A>G, NM_001329931.2:c.1190A>G, NM_001329931.1:c.1190A>G, NM_001329930.2:c.1190A>G, NM_001329930.1:c.1190A>G, NM_001329928.2:c.1190A>G, NM_001329928.1:c.1190A>G, NM_001329932.2:c.1190A>G, NM_001329932.1:c.1190A>G, NM_001329929.2:c.1190A>G, NM_001329929.1:c.1190A>G, NM_001329934.2:c.1190A>G, NM_001329934.1:c.1190A>G, NP_065837.1:p.Tyr397Cys, NP_001316862.1:p.Tyr397Cys, NP_001316860.1:p.Tyr397Cys, NP_001316859.1:p.Tyr397Cys, NP_001316857.1:p.Tyr397Cys, NP_001316861.1:p.Tyr397Cys, NP_001316858.1:p.Tyr397Cys, NP_001316863.1:p.Tyr397Cys

Select item 146878607116.

rs1468786071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66884806 (GRCh38)
16:66918709 (GRCh37)
Canonical SPDI:: NC_000016.10:66884805:G:A
Gene:: PDP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66884806G>A, NC_000016.9:g.66918709G>A, NG_051332.2:g.9446G>A, NM_020786.4:c.522G>A, NM_020786.3:c.522G>A, NM_020786.2:c.522G>A, NM_001329933.2:c.522G>A, NM_001329933.1:c.522G>A, NM_001329931.2:c.522G>A, NM_001329931.1:c.522G>A, NM_001329930.2:c.522G>A, NM_001329930.1:c.522G>A, NM_001329928.2:c.522G>A, NM_001329928.1:c.522G>A, NM_001329932.2:c.522G>A, NM_001329932.1:c.522G>A, NM_001329929.2:c.522G>A, NM_001329929.1:c.522G>A, NM_001329934.2:c.522G>A, NM_001329934.1:c.522G>A

Select item 146761143517.

rs1467611435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66885071 (GRCh38)
16:66918974 (GRCh37)
Canonical SPDI:: NC_000016.10:66885070:G:A
Gene:: PDP2 (Varview)
Functional Consequence:: 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_000016.10:g.66885071G>A, NC_000016.9:g.66918974G>A, NG_051332.2:g.9711G>A, NM_020786.4:c.787G>A, NM_020786.3:c.787G>A, NM_020786.2:c.787G>A, NM_001329933.2:c.787G>A, NM_001329933.1:c.787G>A, NM_001329931.2:c.787G>A, NM_001329931.1:c.787G>A, NM_001329930.2:c.787G>A, NM_001329930.1:c.787G>A, NM_001329928.2:c.787G>A, NM_001329928.1:c.787G>A, NM_001329932.2:c.787G>A, NM_001329932.1:c.787G>A, NM_001329929.2:c.787G>A, NM_001329929.1:c.787G>A, NM_001329934.2:c.787G>A, NM_001329934.1:c.787G>A, NP_065837.1:p.Ala263Thr, NP_001316862.1:p.Ala263Thr, NP_001316860.1:p.Ala263Thr, NP_001316859.1:p.Ala263Thr, NP_001316857.1:p.Ala263Thr, NP_001316861.1:p.Ala263Thr, NP_001316858.1:p.Ala263Thr, NP_001316863.1:p.Ala263Thr

Select item 146665331618.

rs1466653316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66884425 (GRCh38)
16:66918328 (GRCh37)
Canonical SPDI:: NC_000016.10:66884424:C:T
Gene:: PDP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66884425C>T, NC_000016.9:g.66918328C>T, NG_051332.2:g.9065C>T, NM_020786.4:c.141C>T, NM_020786.3:c.141C>T, NM_020786.2:c.141C>T, NM_001329933.2:c.141C>T, NM_001329933.1:c.141C>T, NM_001329931.2:c.141C>T, NM_001329931.1:c.141C>T, NM_001329930.2:c.141C>T, NM_001329930.1:c.141C>T, NM_001329928.2:c.141C>T, NM_001329928.1:c.141C>T, NM_001329932.2:c.141C>T, NM_001329932.1:c.141C>T, NM_001329929.2:c.141C>T, NM_001329929.1:c.141C>T, NM_001329934.2:c.141C>T, NM_001329934.1:c.141C>T

Select item 146035211719.

rs1460352117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66885745 (GRCh38)
16:66919648 (GRCh37)
Canonical SPDI:: NC_000016.10:66885744:G:A
Gene:: PDP2 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66885745G>A, NC_000016.9:g.66919648G>A, NG_051332.2:g.10385G>A, NM_020786.4:c.1461G>A, NM_020786.3:c.1461G>A, NM_020786.2:c.1461G>A, NM_001329933.2:c.1461G>A, NM_001329933.1:c.1461G>A, NM_001329931.2:c.1461G>A, NM_001329931.1:c.1461G>A, NM_001329930.2:c.1461G>A, NM_001329930.1:c.1461G>A, NM_001329928.2:c.1461G>A, NM_001329928.1:c.1461G>A, NM_001329932.2:c.1461G>A, NM_001329932.1:c.1461G>A, NM_001329929.2:c.1461G>A, NM_001329929.1:c.1461G>A, NM_001329934.2:c.1461G>A, NM_001329934.1:c.1461G>A, NP_065837.1:p.Met487Ile, NP_001316862.1:p.Met487Ile, NP_001316860.1:p.Met487Ile, NP_001316859.1:p.Met487Ile, NP_001316857.1:p.Met487Ile, NP_001316861.1:p.Met487Ile, NP_001316858.1:p.Met487Ile, NP_001316863.1:p.Met487Ile

Select item 145821260120.

rs1458212601 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:66884636 (GRCh38)
16:66918539 (GRCh37)
Canonical SPDI:: NC_000016.10:66884635:T:A
Gene:: PDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.66884636T>A, NC_000016.9:g.66918539T>A, NG_051332.2:g.9276T>A, NM_020786.4:c.352T>A, NM_020786.3:c.352T>A, NM_020786.2:c.352T>A, NM_001329933.2:c.352T>A, NM_001329933.1:c.352T>A, NM_001329931.2:c.352T>A, NM_001329931.1:c.352T>A, NM_001329930.2:c.352T>A, NM_001329930.1:c.352T>A, NM_001329928.2:c.352T>A, NM_001329928.1:c.352T>A, NM_001329932.2:c.352T>A, NM_001329932.1:c.352T>A, NM_001329929.2:c.352T>A, NM_001329929.1:c.352T>A, NM_001329934.2:c.352T>A, NM_001329934.1:c.352T>A, NP_065837.1:p.Ser118Thr, NP_001316862.1:p.Ser118Thr, NP_001316860.1:p.Ser118Thr, NP_001316859.1:p.Ser118Thr, NP_001316857.1:p.Ser118Thr, NP_001316861.1:p.Ser118Thr, NP_001316858.1:p.Ser118Thr, NP_001316863.1:p.Ser118Thr

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Items: 1 to 20 of 501

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