SNP Links for Protein (Select 359465590) - SNP

Links from Protein

Items: 1 to 20 of 694

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Select item 14864075311.

rs1486407531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:94098540 (GRCh38)
9:96860822 (GRCh37)
Canonical SPDI:: NC_000009.12:94098539:A:G
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.94098540A>G, NC_000009.11:g.96860822A>G, NM_152422.4:c.1968A>G, NM_177995.3:c.1812A>G, NM_177995.2:c.1812A>G, NM_001253830.2:c.1812A>G, NM_001253830.1:c.1812A>G, NM_001253829.2:c.1974A>G, NM_001253829.1:c.1974A>G

Select item 14860412862.

rs1486041286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:94098112 (GRCh38)
9:96860394 (GRCh37)
Canonical SPDI:: NC_000009.12:94098111:G:A
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.94098112G>A, NC_000009.11:g.96860394G>A, NM_152422.4:c.1540G>A, NM_177995.3:c.1384G>A, NM_177995.2:c.1384G>A, NM_001253830.2:c.1384G>A, NM_001253830.1:c.1384G>A, NM_001253829.2:c.1546G>A, NM_001253829.1:c.1546G>A, NP_689635.3:p.Gly514Arg, NP_818931.1:p.Gly462Arg, NP_001240759.1:p.Gly462Arg, NP_001240758.1:p.Gly516Arg

Select item 14842028313.

rs1484202831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:94097730 (GRCh38)
9:96860012 (GRCh37)
Canonical SPDI:: NC_000009.12:94097729:A:G
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.94097730A>G, NC_000009.11:g.96860012A>G, NM_152422.4:c.1158A>G, NM_177995.3:c.1002A>G, NM_177995.2:c.1002A>G, NM_001253830.2:c.1002A>G, NM_001253830.1:c.1002A>G, NM_001253829.2:c.1164A>G, NM_001253829.1:c.1164A>G

Select item 14840899934.

rs1484089993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:94088253 (GRCh38)
9:96850535 (GRCh37)
Canonical SPDI:: NC_000009.12:94088252:G:A
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.94088253G>A, NC_000009.11:g.96850535G>A, NM_152422.4:c.600G>A, NM_177995.3:c.444G>A, NM_177995.2:c.444G>A, NM_001253830.2:c.444G>A, NM_001253830.1:c.444G>A, NM_001253829.2:c.606G>A, NM_001253829.1:c.606G>A, NP_689635.3:p.Met200Ile, NP_818931.1:p.Met148Ile, NP_001240759.1:p.Met148Ile, NP_001240758.1:p.Met202Ile

Select item 14814051455.

rs1481405145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:94064771 (GRCh38)
9:96827053 (GRCh37)
Canonical SPDI:: NC_000009.12:94064770:A:G
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.94064771A>G, NC_000009.11:g.96827053A>G, NM_177995.3:c.32A>G, NM_177995.2:c.32A>G, NM_001253830.2:c.32A>G, NM_001253830.1:c.32A>G, NP_818931.1:p.Gln11Arg, NP_001240759.1:p.Gln11Arg

Select item 14807187856.

rs1480718785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:94107907 (GRCh38)
9:96870189 (GRCh37)
Canonical SPDI:: NC_000009.12:94107906:G:A
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.94107907G>A, NC_000009.11:g.96870189G>A, NM_152422.4:c.2384G>A, NM_177995.3:c.2228G>A, NM_177995.2:c.2228G>A, NM_001253830.2:c.2213G>A, NM_001253830.1:c.2213G>A, NM_001253829.2:c.2390G>A, NM_001253829.1:c.2390G>A, NP_689635.3:p.Arg795Lys, NP_818931.1:p.Arg743Lys, NP_001240759.1:p.Arg738Lys, NP_001240758.1:p.Arg797Lys

Select item 14775275437.

rs1477527543 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:94101598 (GRCh38)
9:96863880 (GRCh37)
Canonical SPDI:: NC_000009.12:94101597:A:G
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.94101598A>G, NC_000009.11:g.96863880A>G, NM_152422.4:c.2040A>G, NM_177995.3:c.1884A>G, NM_177995.2:c.1884A>G, NM_001253830.2:c.1869A>G, NM_001253830.1:c.1869A>G, NM_001253829.2:c.2046A>G, NM_001253829.1:c.2046A>G

Select item 14748013138.

rs1474801313 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:94097883 (GRCh38)
9:96860165 (GRCh37)
Canonical SPDI:: NC_000009.12:94097882:T:A
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.94097883T>A, NC_000009.11:g.96860165T>A, NM_152422.4:c.1311T>A, NM_177995.3:c.1155T>A, NM_177995.2:c.1155T>A, NM_001253830.2:c.1155T>A, NM_001253830.1:c.1155T>A, NM_001253829.2:c.1317T>A, NM_001253829.1:c.1317T>A

Select item 14735976119.

rs1473597611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:94097444 (GRCh38)
9:96859726 (GRCh37)
Canonical SPDI:: NC_000009.12:94097443:A:C
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.94097444A>C, NC_000009.11:g.96859726A>C, NM_152422.4:c.872A>C, NM_177995.3:c.716A>C, NM_177995.2:c.716A>C, NM_001253830.2:c.716A>C, NM_001253830.1:c.716A>C, NM_001253829.2:c.878A>C, NM_001253829.1:c.878A>C, NP_689635.3:p.Glu291Ala, NP_818931.1:p.Glu239Ala, NP_001240759.1:p.Glu239Ala, NP_001240758.1:p.Glu293Ala

Select item 147261982110.

rs1472619821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:94097744 (GRCh38)
9:96860026 (GRCh37)
Canonical SPDI:: NC_000009.12:94097743:A:G
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.94097744A>G, NC_000009.11:g.96860026A>G, NM_152422.4:c.1172A>G, NM_177995.3:c.1016A>G, NM_177995.2:c.1016A>G, NM_001253830.2:c.1016A>G, NM_001253830.1:c.1016A>G, NM_001253829.2:c.1178A>G, NM_001253829.1:c.1178A>G, NP_689635.3:p.His391Arg, NP_818931.1:p.His339Arg, NP_001240759.1:p.His339Arg, NP_001240758.1:p.His393Arg

Select item 147210576011.

rs1472105760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:94085378 (GRCh38)
9:96847660 (GRCh37)
Canonical SPDI:: NC_000009.12:94085377:C:T
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.94085378C>T, NC_000009.11:g.96847660C>T, NM_152422.4:c.366C>T, NM_177995.3:c.210C>T, NM_177995.2:c.210C>T, NM_001253830.2:c.210C>T, NM_001253830.1:c.210C>T, NM_001253829.2:c.372C>T, NM_001253829.1:c.372C>T

Select item 147032050712.

rs1470320507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:94064797 (GRCh38)
9:96827079 (GRCh37)
Canonical SPDI:: NC_000009.12:94064796:A:G
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.94064797A>G, NC_000009.11:g.96827079A>G, NM_177995.3:c.58A>G, NM_177995.2:c.58A>G, NM_001253830.2:c.58A>G, NM_001253830.1:c.58A>G, NP_818931.1:p.Ser20Gly, NP_001240759.1:p.Ser20Gly

Select item 146932670413.

rs1469326704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:94097823 (GRCh38)
9:96860105 (GRCh37)
Canonical SPDI:: NC_000009.12:94097822:T:C
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.94097823T>C, NC_000009.11:g.96860105T>C, NM_152422.4:c.1251T>C, NM_177995.3:c.1095T>C, NM_177995.2:c.1095T>C, NM_001253830.2:c.1095T>C, NM_001253830.1:c.1095T>C, NM_001253829.2:c.1257T>C, NM_001253829.1:c.1257T>C

Select item 146873571414.

rs1468735714 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 9:94104296 (GRCh38)
9:96866578 (GRCh37)
Canonical SPDI:: NC_000009.12:94104295:T:
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.94104296del, NC_000009.11:g.96866578del, NM_152422.4:c.2215del, NM_177995.3:c.2059del, NM_177995.2:c.2059del, NM_001253830.2:c.2044del, NM_001253830.1:c.2044del, NM_001253829.2:c.2221del, NM_001253829.1:c.2221del, NP_689635.3:p.Cys739fs, NP_818931.1:p.Cys687fs, NP_001240759.1:p.Cys682fs, NP_001240758.1:p.Cys741fs

Select item 146688379315.

rs1466883793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:94097567 (GRCh38)
9:96859849 (GRCh37)
Canonical SPDI:: NC_000009.12:94097566:G:A
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.94097567G>A, NC_000009.11:g.96859849G>A, NM_152422.4:c.995G>A, NM_177995.3:c.839G>A, NM_177995.2:c.839G>A, NM_001253830.2:c.839G>A, NM_001253830.1:c.839G>A, NM_001253829.2:c.1001G>A, NM_001253829.1:c.1001G>A, NP_689635.3:p.Arg332Gln, NP_818931.1:p.Arg280Gln, NP_001240759.1:p.Arg280Gln, NP_001240758.1:p.Arg334Gln

Select item 146598106716.

rs1465981067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:94097351 (GRCh38)
9:96859633 (GRCh37)
Canonical SPDI:: NC_000009.12:94097350:C:T
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.94097351C>T, NC_000009.11:g.96859633C>T, NM_152422.4:c.779C>T, NM_177995.3:c.623C>T, NM_177995.2:c.623C>T, NM_001253830.2:c.623C>T, NM_001253830.1:c.623C>T, NM_001253829.2:c.785C>T, NM_001253829.1:c.785C>T, NP_689635.3:p.Ala260Val, NP_818931.1:p.Ala208Val, NP_001240759.1:p.Ala208Val, NP_001240758.1:p.Ala262Val

Select item 146550701317.

rs1465507013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:94104341 (GRCh38)
9:96866623 (GRCh37)
Canonical SPDI:: NC_000009.12:94104340:G:A
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.94104341G>A, NC_000009.11:g.96866623G>A, NM_152422.4:c.2260G>A, NM_177995.3:c.2104G>A, NM_177995.2:c.2104G>A, NM_001253830.2:c.2089G>A, NM_001253830.1:c.2089G>A, NM_001253829.2:c.2266G>A, NM_001253829.1:c.2266G>A, NP_689635.3:p.Val754Met, NP_818931.1:p.Val702Met, NP_001240759.1:p.Val697Met, NP_001240758.1:p.Val756Met

Select item 146371244018.

rs1463712440 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 9:94098511 (GRCh38)
9:96860793 (GRCh37)
Canonical SPDI:: NC_000009.12:94098510:AAA:AA
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.94098513del, NC_000009.11:g.96860795del, NM_152422.4:c.1941del, NM_177995.3:c.1785del, NM_177995.2:c.1785del, NM_001253830.2:c.1785del, NM_001253830.1:c.1785del, NM_001253829.2:c.1947del, NM_001253829.1:c.1947del, NP_689635.3:p.Ala648fs, NP_818931.1:p.Ala596fs, NP_001240759.1:p.Ala596fs, NP_001240758.1:p.Ala650fs

Select item 146134182319.

rs1461341823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:94064760 (GRCh38)
9:96827042 (GRCh37)
Canonical SPDI:: NC_000009.12:94064759:T:C
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.94064760T>C, NC_000009.11:g.96827042T>C, NM_177995.3:c.21T>C, NM_177995.2:c.21T>C, NM_001253830.2:c.21T>C, NM_001253830.1:c.21T>C

Select item 146009651120.

rs1460096511 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAAGAAGAAAAGTAGGCTGCAAATATGAATAATCCCT [Show Flanks]
Chromosome:: 9:94098047 (GRCh38)
9:96860330 (GRCh37)
Canonical SPDI:: NC_000009.12:94098047::CAAGAAGAAAAGTAGGCTGCAAATATGAATAATCCCT
Gene:: PTPDC1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,inframe_indel
HGVS:: NC_000009.12:g.94098047_94098048insCAAGAAGAAAAGTAGGCTGCAAATATGAATAATCCCT, NC_000009.11:g.96860329_96860330insCAAGAAGAAAAGTAGGCTGCAAATATGAATAATCCCT, NM_152422.4:c.1475_1476insCAAGAAGAAAAGTAGGCTGCAAATATGAATAATCCCT, NM_177995.3:c.1319_1320insCAAGAAGAAAAGTAGGCTGCAAATATGAATAATCCCT, NM_177995.2:c.1319_1320insCAAGAAGAAAAGTAGGCTGCAAATATGAATAATCCCT, NM_001253830.2:c.1319_1320insCAAGAAGAAAAGTAGGCTGCAAATATGAATAATCCCT, NM_001253830.1:c.1319_1320insCAAGAAGAAAAGTAGGCTGCAAATATGAATAATCCCT, NM_001253829.2:c.1481_1482insCAAGAAGAAAAGTAGGCTGCAAATATGAATAATCCCT, NM_001253829.1:c.1481_1482insCAAGAAGAAAAGTAGGCTGCAAATATGAATAATCCCT, NP_689635.3:p.Glu492delinsAspLysLysLysSerArgLeuGlnIleTer, NP_818931.1:p.Glu440delinsAspLysLysLysSerArgLeuGlnIleTer, NP_001240759.1:p.Glu440delinsAspLysLysLysSerArgLeuGlnIleTer, NP_001240758.1:p.Glu494delinsAspLysLysLysSerArgLeuGlnIleTer

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