SNP Links for Protein (Select 18497306) - SNP

Select item 14904615731.

rs1490461573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:75438011 (GRCh38)
14:75904714 (GRCh37)
Canonical SPDI:: NC_000014.9:75438010:A:C
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.75438011A>C, NC_000014.8:g.75904714A>C, XM_005267332.5:c.91A>C, XM_005267332.4:c.91A>C, XM_005267332.3:c.91A>C, XM_005267332.2:c.91A>C, XM_005267332.1:c.91A>C, NM_130469.3:c.91A>C, NM_001135048.2:c.91A>C, NM_001135048.1:c.91A>C, NM_001135047.2:c.91A>C, NM_001135047.1:c.91A>C, XM_017020973.2:c.91A>C, XM_017020973.1:c.91A>C, XM_047430943.1:c.124A>C, XM_047430942.1:c.220A>C, XM_047430944.1:c.124A>C, NM_001135049.1:c.124A>C, XP_005267389.1:p.Thr31Pro, NP_569736.1:p.Thr31Pro, NP_001128520.1:p.Thr31Pro, NP_001128519.1:p.Thr31Pro, XP_016876462.1:p.Thr31Pro, XP_047286899.1:p.Thr42Pro, XP_047286898.1:p.Thr74Pro, XP_047286900.1:p.Thr42Pro, NP_001128521.1:p.Thr42Pro

Select item 14852637792.

rs1485263779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:75461458 (GRCh38)
14:75928161 (GRCh37)
Canonical SPDI:: NC_000014.9:75461457:C:T
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.75461458C>T, NC_000014.8:g.75928161C>T, XM_005267332.5:c.234C>T, XM_005267332.4:c.234C>T, XM_005267332.3:c.234C>T, XM_005267332.2:c.234C>T, XM_005267332.1:c.234C>T, NM_130469.3:c.234C>T, NM_001135048.2:c.234C>T, NM_001135048.1:c.234C>T, NM_001135047.2:c.234C>T, NM_001135047.1:c.234C>T, XM_017020973.2:c.234C>T, XM_017020973.1:c.234C>T, XM_047430943.1:c.267C>T, XM_047430942.1:c.363C>T, XM_047430944.1:c.267C>T, NM_001135049.1:c.267C>T

Select item 14837561993.

rs1483756199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:75438072 (GRCh38)
14:75904775 (GRCh37)
Canonical SPDI:: NC_000014.9:75438071:A:T
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.75438072A>T, NC_000014.8:g.75904775A>T, XM_005267332.5:c.152A>T, XM_005267332.4:c.152A>T, XM_005267332.3:c.152A>T, XM_005267332.2:c.152A>T, XM_005267332.1:c.152A>T, NM_130469.3:c.152A>T, NM_001135048.2:c.152A>T, NM_001135048.1:c.152A>T, NM_001135047.2:c.152A>T, NM_001135047.1:c.152A>T, XM_017020973.2:c.152A>T, XM_017020973.1:c.152A>T, XM_047430943.1:c.185A>T, XM_047430942.1:c.281A>T, XM_047430944.1:c.185A>T, NM_001135049.1:c.185A>T, XP_005267389.1:p.His51Leu, NP_569736.1:p.His51Leu, NP_001128520.1:p.His51Leu, NP_001128519.1:p.His51Leu, XP_016876462.1:p.His51Leu, XP_047286899.1:p.His62Leu, XP_047286898.1:p.His94Leu, XP_047286900.1:p.His62Leu, NP_001128521.1:p.His62Leu

Select item 14677766254.

rs1467776625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:75438018 (GRCh38)
14:75904721 (GRCh37)
Canonical SPDI:: NC_000014.9:75438017:A:G
Gene:: JDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.75438018A>G, NC_000014.8:g.75904721A>G, XM_005267332.5:c.98A>G, XM_005267332.4:c.98A>G, XM_005267332.3:c.98A>G, XM_005267332.2:c.98A>G, XM_005267332.1:c.98A>G, NM_130469.3:c.98A>G, NM_001135048.2:c.98A>G, NM_001135048.1:c.98A>G, NM_001135047.2:c.98A>G, NM_001135047.1:c.98A>G, XM_017020973.2:c.98A>G, XM_017020973.1:c.98A>G, XM_047430943.1:c.131A>G, XM_047430942.1:c.227A>G, XM_047430944.1:c.131A>G, NM_001135049.1:c.131A>G, XP_005267389.1:p.Glu33Gly, NP_569736.1:p.Glu33Gly, NP_001128520.1:p.Glu33Gly, NP_001128519.1:p.Glu33Gly, XP_016876462.1:p.Glu33Gly, XP_047286899.1:p.Glu44Gly, XP_047286898.1:p.Glu76Gly, XP_047286900.1:p.Glu44Gly, NP_001128521.1:p.Glu44Gly

Select item 14653862235.

rs1465386223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:75461510 (GRCh38)
14:75928213 (GRCh37)
Canonical SPDI:: NC_000014.9:75461509:C:T
Gene:: JDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.75461510C>T, NC_000014.8:g.75928213C>T, XM_005267332.5:c.286C>T, XM_005267332.4:c.286C>T, XM_005267332.3:c.286C>T, XM_005267332.2:c.286C>T, XM_005267332.1:c.286C>T, NM_130469.3:c.286C>T, NM_001135048.2:c.286C>T, NM_001135048.1:c.286C>T, NM_001135047.2:c.286C>T, NM_001135047.1:c.286C>T, XM_017020973.2:c.286C>T, XM_017020973.1:c.286C>T, XM_047430943.1:c.319C>T, XM_047430942.1:c.415C>T, XM_047430944.1:c.319C>T, NM_001135049.1:c.319C>T, XP_005267389.1:p.Arg96Cys, NP_569736.1:p.Arg96Cys, NP_001128520.1:p.Arg96Cys, NP_001128519.1:p.Arg96Cys, XP_016876462.1:p.Arg96Cys, XP_047286899.1:p.Arg107Cys, XP_047286898.1:p.Arg139Cys, XP_047286900.1:p.Arg107Cys, NP_001128521.1:p.Arg107Cys

Select item 14610944856.

rs1461094485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:75437995 (GRCh38)
14:75904698 (GRCh37)
Canonical SPDI:: NC_000014.9:75437994:C:G
Gene:: JDP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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)
HGVS:: NC_000014.9:g.75437995C>G, NC_000014.8:g.75904698C>G, XM_005267332.5:c.75C>G, XM_005267332.4:c.75C>G, XM_005267332.3:c.75C>G, XM_005267332.2:c.75C>G, XM_005267332.1:c.75C>G, NM_130469.3:c.75C>G, NM_001135048.2:c.75C>G, NM_001135048.1:c.75C>G, NM_001135047.2:c.75C>G, NM_001135047.1:c.75C>G, XM_017020973.2:c.75C>G, XM_017020973.1:c.75C>G, XM_047430943.1:c.108C>G, XM_047430942.1:c.204C>G, XM_047430944.1:c.108C>G, NM_001135049.1:c.108C>G

Select item 14589212067.

rs1458921206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:75437951 (GRCh38)
14:75904654 (GRCh37)
Canonical SPDI:: NC_000014.9:75437950:G:A
Gene:: JDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.75437951G>A, NC_000014.8:g.75904654G>A, XM_005267332.5:c.31G>A, XM_005267332.4:c.31G>A, XM_005267332.3:c.31G>A, XM_005267332.2:c.31G>A, XM_005267332.1:c.31G>A, NM_130469.3:c.31G>A, NM_001135048.2:c.31G>A, NM_001135048.1:c.31G>A, NM_001135047.2:c.31G>A, NM_001135047.1:c.31G>A, XM_017020973.2:c.31G>A, XM_017020973.1:c.31G>A, XM_047430943.1:c.64G>A, XM_047430942.1:c.160G>A, XM_047430944.1:c.64G>A, NM_001135049.1:c.64G>A, XP_005267389.1:p.Val11Met, NP_569736.1:p.Val11Met, NP_001128520.1:p.Val11Met, NP_001128519.1:p.Val11Met, XP_016876462.1:p.Val11Met, XP_047286899.1:p.Val22Met, XP_047286898.1:p.Val54Met, XP_047286900.1:p.Val22Met, NP_001128521.1:p.Val22Met

Select item 14561162018.

rs1456116201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:75469364 (GRCh38)
14:75936067 (GRCh37)
Canonical SPDI:: NC_000014.9:75469363:G:A
Gene:: JDP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000014.9:g.75469364G>A, NC_000014.8:g.75936067G>A, XM_005267332.5:c.381G>A, XM_005267332.4:c.381G>A, XM_005267332.3:c.381G>A, XM_005267332.2:c.381G>A, XM_005267332.1:c.381G>A, NM_130469.3:c.381G>A, NM_001135048.2:c.381G>A, NM_001135048.1:c.381G>A, NM_001135047.2:c.381G>A, NM_001135047.1:c.381G>A, XM_017020973.2:c.381G>A, XM_017020973.1:c.381G>A, XM_047430943.1:c.414G>A, XM_047430942.1:c.510G>A, XM_047430944.1:c.414G>A, NM_001135049.1:c.414G>A

Select item 14534073179.

rs1453407317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:75469417 (GRCh38)
14:75936120 (GRCh37)
Canonical SPDI:: NC_000014.9:75469416:G:C
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.75469417G>C, NC_000014.8:g.75936120G>C, XM_005267332.5:c.434G>C, XM_005267332.4:c.434G>C, XM_005267332.3:c.434G>C, XM_005267332.2:c.434G>C, XM_005267332.1:c.434G>C, NM_130469.3:c.434G>C, NM_001135048.2:c.434G>C, NM_001135048.1:c.434G>C, NM_001135047.2:c.434G>C, NM_001135047.1:c.434G>C, XM_017020973.2:c.434G>C, XM_017020973.1:c.434G>C, XM_047430943.1:c.467G>C, XM_047430942.1:c.563G>C, XM_047430944.1:c.467G>C, NM_001135049.1:c.467G>C, XP_005267389.1:p.Ser145Thr, NP_569736.1:p.Ser145Thr, NP_001128520.1:p.Ser145Thr, NP_001128519.1:p.Ser145Thr, XP_016876462.1:p.Ser145Thr, XP_047286899.1:p.Ser156Thr, XP_047286898.1:p.Ser188Thr, XP_047286900.1:p.Ser156Thr, NP_001128521.1:p.Ser156Thr

Select item 145105783510.

rs1451057835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:75469474 (GRCh38)
14:75936177 (GRCh37)
Canonical SPDI:: NC_000014.9:75469473:G:A
Gene:: JDP2 (Varview)
Functional Consequence:: terminator_codon_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.75469474G>A, NC_000014.8:g.75936177G>A, XM_005267332.5:c.491G>A, XM_005267332.4:c.491G>A, XM_005267332.3:c.491G>A, XM_005267332.2:c.491G>A, XM_005267332.1:c.491G>A, NM_130469.3:c.491G>A, NM_001135048.2:c.491G>A, NM_001135048.1:c.491G>A, NM_001135047.2:c.491G>A, NM_001135047.1:c.491G>A, XM_017020973.2:c.491G>A, XM_017020973.1:c.491G>A, XM_047430943.1:c.524G>A, XM_047430942.1:c.620G>A, XM_047430944.1:c.524G>A, NM_001135049.1:c.524G>A

Select item 145014589311.

rs1450145893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:75437969 (GRCh38)
14:75904672 (GRCh37)
Canonical SPDI:: NC_000014.9:75437968:C:T
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.75437969C>T, NC_000014.8:g.75904672C>T, XM_005267332.5:c.49C>T, XM_005267332.4:c.49C>T, XM_005267332.3:c.49C>T, XM_005267332.2:c.49C>T, XM_005267332.1:c.49C>T, NM_130469.3:c.49C>T, NM_001135048.2:c.49C>T, NM_001135048.1:c.49C>T, NM_001135047.2:c.49C>T, NM_001135047.1:c.49C>T, XM_017020973.2:c.49C>T, XM_017020973.1:c.49C>T, XM_047430943.1:c.82C>T, XM_047430942.1:c.178C>T, XM_047430944.1:c.82C>T, NM_001135049.1:c.82C>T, XP_005267389.1:p.Pro17Ser, NP_569736.1:p.Pro17Ser, NP_001128520.1:p.Pro17Ser, NP_001128519.1:p.Pro17Ser, XP_016876462.1:p.Pro17Ser, XP_047286899.1:p.Pro28Ser, XP_047286898.1:p.Pro60Ser, XP_047286900.1:p.Pro28Ser, NP_001128521.1:p.Pro28Ser

Select item 144982328912.

rs1449823289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:75461462 (GRCh38)
14:75928165 (GRCh37)
Canonical SPDI:: NC_000014.9:75461461:G:A
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.75461462G>A, NC_000014.8:g.75928165G>A, XM_005267332.5:c.238G>A, XM_005267332.4:c.238G>A, XM_005267332.3:c.238G>A, XM_005267332.2:c.238G>A, XM_005267332.1:c.238G>A, NM_130469.3:c.238G>A, NM_001135048.2:c.238G>A, NM_001135048.1:c.238G>A, NM_001135047.2:c.238G>A, NM_001135047.1:c.238G>A, XM_017020973.2:c.238G>A, XM_017020973.1:c.238G>A, XM_047430943.1:c.271G>A, XM_047430942.1:c.367G>A, XM_047430944.1:c.271G>A, NM_001135049.1:c.271G>A, XP_005267389.1:p.Glu80Lys, NP_569736.1:p.Glu80Lys, NP_001128520.1:p.Glu80Lys, NP_001128519.1:p.Glu80Lys, XP_016876462.1:p.Glu80Lys, XP_047286899.1:p.Glu91Lys, XP_047286898.1:p.Glu123Lys, XP_047286900.1:p.Glu91Lys, NP_001128521.1:p.Glu91Lys

Select item 144801945413.

rs1448019454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:75469421 (GRCh38)
14:75936124 (GRCh37)
Canonical SPDI:: NC_000014.9:75469420:C:T
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.75469421C>T, NC_000014.8:g.75936124C>T, XM_005267332.5:c.438C>T, XM_005267332.4:c.438C>T, XM_005267332.3:c.438C>T, XM_005267332.2:c.438C>T, XM_005267332.1:c.438C>T, NM_130469.3:c.438C>T, NM_001135048.2:c.438C>T, NM_001135048.1:c.438C>T, NM_001135047.2:c.438C>T, NM_001135047.1:c.438C>T, XM_017020973.2:c.438C>T, XM_017020973.1:c.438C>T, XM_047430943.1:c.471C>T, XM_047430942.1:c.567C>T, XM_047430944.1:c.471C>T, NM_001135049.1:c.471C>T

Select item 144282125114.

rs1442821251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:75437983 (GRCh38)
14:75904686 (GRCh37)
Canonical SPDI:: NC_000014.9:75437982:C:G,NC_000014.9:75437982:C:T
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.75437983C>G, NC_000014.9:g.75437983C>T, NC_000014.8:g.75904686C>G, NC_000014.8:g.75904686C>T, XM_005267332.5:c.63C>G, XM_005267332.5:c.63C>T, XM_005267332.4:c.63C>G, XM_005267332.4:c.63C>T, XM_005267332.3:c.63C>G, XM_005267332.3:c.63C>T, XM_005267332.2:c.63C>G, XM_005267332.2:c.63C>T, XM_005267332.1:c.63C>G, XM_005267332.1:c.63C>T, NM_130469.3:c.63C>G, NM_130469.3:c.63C>T, NM_001135048.2:c.63C>G, NM_001135048.2:c.63C>T, NM_001135048.1:c.63C>G, NM_001135048.1:c.63C>T, NM_001135047.2:c.63C>G, NM_001135047.2:c.63C>T, NM_001135047.1:c.63C>G, NM_001135047.1:c.63C>T, XM_017020973.2:c.63C>G, XM_017020973.2:c.63C>T, XM_017020973.1:c.63C>G, XM_017020973.1:c.63C>T, XM_047430943.1:c.96C>G, XM_047430943.1:c.96C>T, XM_047430942.1:c.192C>G, XM_047430942.1:c.192C>T, XM_047430944.1:c.96C>G, XM_047430944.1:c.96C>T, NM_001135049.1:c.96C>G, NM_001135049.1:c.96C>T

Select item 143668833815.

rs1436688338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:75437961 (GRCh38)
14:75904664 (GRCh37)
Canonical SPDI:: NC_000014.9:75437960:G:C
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.75437961G>C, NC_000014.8:g.75904664G>C, XM_005267332.5:c.41G>C, XM_005267332.4:c.41G>C, XM_005267332.3:c.41G>C, XM_005267332.2:c.41G>C, XM_005267332.1:c.41G>C, NM_130469.3:c.41G>C, NM_001135048.2:c.41G>C, NM_001135048.1:c.41G>C, NM_001135047.2:c.41G>C, NM_001135047.1:c.41G>C, XM_017020973.2:c.41G>C, XM_017020973.1:c.41G>C, XM_047430943.1:c.74G>C, XM_047430942.1:c.170G>C, XM_047430944.1:c.74G>C, NM_001135049.1:c.74G>C, XP_005267389.1:p.Gly14Ala, NP_569736.1:p.Gly14Ala, NP_001128520.1:p.Gly14Ala, NP_001128519.1:p.Gly14Ala, XP_016876462.1:p.Gly14Ala, XP_047286899.1:p.Gly25Ala, XP_047286898.1:p.Gly57Ala, XP_047286900.1:p.Gly25Ala, NP_001128521.1:p.Gly25Ala

Select item 143667554916.

rs1436675549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:75469389 (GRCh38)
14:75936092 (GRCh37)
Canonical SPDI:: NC_000014.9:75469388:C:T
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.75469389C>T, NC_000014.8:g.75936092C>T, XM_005267332.5:c.406C>T, XM_005267332.4:c.406C>T, XM_005267332.3:c.406C>T, XM_005267332.2:c.406C>T, XM_005267332.1:c.406C>T, NM_130469.3:c.406C>T, NM_001135048.2:c.406C>T, NM_001135048.1:c.406C>T, NM_001135047.2:c.406C>T, NM_001135047.1:c.406C>T, XM_017020973.2:c.406C>T, XM_017020973.1:c.406C>T, XM_047430943.1:c.439C>T, XM_047430942.1:c.535C>T, XM_047430944.1:c.439C>T, NM_001135049.1:c.439C>T, XP_005267389.1:p.Arg136Cys, NP_569736.1:p.Arg136Cys, NP_001128520.1:p.Arg136Cys, NP_001128519.1:p.Arg136Cys, XP_016876462.1:p.Arg136Cys, XP_047286899.1:p.Arg147Cys, XP_047286898.1:p.Arg179Cys, XP_047286900.1:p.Arg147Cys, NP_001128521.1:p.Arg147Cys

Select item 142825553317.

rs1428255533 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 14:75469365 (GRCh38)
14:75936068 (GRCh37)
Canonical SPDI:: NC_000014.9:75469364:C:
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.75469365del, NC_000014.8:g.75936068del, XM_005267332.5:c.382del, XM_005267332.4:c.382del, XM_005267332.3:c.382del, XM_005267332.2:c.382del, XM_005267332.1:c.382del, NM_130469.3:c.382del, NM_001135048.2:c.382del, NM_001135048.1:c.382del, NM_001135047.2:c.382del, NM_001135047.1:c.382del, XM_017020973.2:c.382del, XM_017020973.1:c.382del, XM_047430943.1:c.415del, XM_047430942.1:c.511del, XM_047430944.1:c.415del, NM_001135049.1:c.415del, XP_005267389.1:p.Leu128fs, NP_569736.1:p.Leu128fs, NP_001128520.1:p.Leu128fs, NP_001128519.1:p.Leu128fs, XP_016876462.1:p.Leu128fs, XP_047286899.1:p.Leu139fs, XP_047286898.1:p.Leu171fs, XP_047286900.1:p.Leu139fs, NP_001128521.1:p.Leu139fs

Select item 142794361118.

rs1427943611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:75437993 (GRCh38)
14:75904696 (GRCh37)
Canonical SPDI:: NC_000014.9:75437992:C:T
Gene:: JDP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.75437993C>T, NC_000014.8:g.75904696C>T, XM_005267332.5:c.73C>T, XM_005267332.4:c.73C>T, XM_005267332.3:c.73C>T, XM_005267332.2:c.73C>T, XM_005267332.1:c.73C>T, NM_130469.3:c.73C>T, NM_001135048.2:c.73C>T, NM_001135048.1:c.73C>T, NM_001135047.2:c.73C>T, NM_001135047.1:c.73C>T, XM_017020973.2:c.73C>T, XM_017020973.1:c.73C>T, XM_047430943.1:c.106C>T, XM_047430942.1:c.202C>T, XM_047430944.1:c.106C>T, NM_001135049.1:c.106C>T, XP_005267389.1:p.Leu25Phe, NP_569736.1:p.Leu25Phe, NP_001128520.1:p.Leu25Phe, NP_001128519.1:p.Leu25Phe, XP_016876462.1:p.Leu25Phe, XP_047286899.1:p.Leu36Phe, XP_047286898.1:p.Leu68Phe, XP_047286900.1:p.Leu36Phe, NP_001128521.1:p.Leu36Phe

Select item 140710189019.

rs1407101890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:75438051 (GRCh38)
14:75904754 (GRCh37)
Canonical SPDI:: NC_000014.9:75438050:G:A
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.75438051G>A, NC_000014.8:g.75904754G>A, XM_005267332.5:c.131G>A, XM_005267332.4:c.131G>A, XM_005267332.3:c.131G>A, XM_005267332.2:c.131G>A, XM_005267332.1:c.131G>A, NM_130469.3:c.131G>A, NM_001135048.2:c.131G>A, NM_001135048.1:c.131G>A, NM_001135047.2:c.131G>A, NM_001135047.1:c.131G>A, XM_017020973.2:c.131G>A, XM_017020973.1:c.131G>A, XM_047430943.1:c.164G>A, XM_047430942.1:c.260G>A, XM_047430944.1:c.164G>A, NM_001135049.1:c.164G>A, XP_005267389.1:p.Gly44Glu, NP_569736.1:p.Gly44Glu, NP_001128520.1:p.Gly44Glu, NP_001128519.1:p.Gly44Glu, XP_016876462.1:p.Gly44Glu, XP_047286899.1:p.Gly55Glu, XP_047286898.1:p.Gly87Glu, XP_047286900.1:p.Gly55Glu, NP_001128521.1:p.Gly55Glu

Select item 140547024920.

rs1405470249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 14:75469434 (GRCh38)
14:75936137 (GRCh37)
Canonical SPDI:: NC_000014.9:75469433:T:A,NC_000014.9:75469433:T:C
Gene:: JDP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.75469434T>A, NC_000014.9:g.75469434T>C, NC_000014.8:g.75936137T>A, NC_000014.8:g.75936137T>C, XM_005267332.5:c.451T>A, XM_005267332.5:c.451T>C, XM_005267332.4:c.451T>A, XM_005267332.4:c.451T>C, XM_005267332.3:c.451T>A, XM_005267332.3:c.451T>C, XM_005267332.2:c.451T>A, XM_005267332.2:c.451T>C, XM_005267332.1:c.451T>A, XM_005267332.1:c.451T>C, NM_130469.3:c.451T>A, NM_130469.3:c.451T>C, NM_001135048.2:c.451T>A, NM_001135048.2:c.451T>C, NM_001135048.1:c.451T>A, NM_001135048.1:c.451T>C, NM_001135047.2:c.451T>A, NM_001135047.2:c.451T>C, NM_001135047.1:c.451T>A, NM_001135047.1:c.451T>C, XM_017020973.2:c.451T>A, XM_017020973.2:c.451T>C, XM_017020973.1:c.451T>A, XM_017020973.1:c.451T>C, XM_047430943.1:c.484T>A, XM_047430943.1:c.484T>C, XM_047430942.1:c.580T>A, XM_047430942.1:c.580T>C, XM_047430944.1:c.484T>A, XM_047430944.1:c.484T>C, NM_001135049.1:c.484T>A, NM_001135049.1:c.484T>C, XP_005267389.1:p.Ser151Thr, XP_005267389.1:p.Ser151Pro, NP_569736.1:p.Ser151Thr, NP_569736.1:p.Ser151Pro, NP_001128520.1:p.Ser151Thr, NP_001128520.1:p.Ser151Pro, NP_001128519.1:p.Ser151Thr, NP_001128519.1:p.Ser151Pro, XP_016876462.1:p.Ser151Thr, XP_016876462.1:p.Ser151Pro, XP_047286899.1:p.Ser162Thr, XP_047286899.1:p.Ser162Pro, XP_047286898.1:p.Ser194Thr, XP_047286898.1:p.Ser194Pro, XP_047286900.1:p.Ser162Thr, XP_047286900.1:p.Ser162Pro, NP_001128521.1:p.Ser162Thr, NP_001128521.1:p.Ser162Pro

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Result Filters

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Items: 1 to 20 of 176

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