SNP Links for Protein (Select 259013545) - SNP

Links from Protein

Items: 1 to 20 of 251

<< First< Prev

Page of 13

Next >Last >>

Select item 14908949731.

rs1490894973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:13977539 (GRCh38)
6:13977770 (GRCh37)
Canonical SPDI:: NC_000006.12:13977538:C:T
Gene:: RNF182 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.13977539C>T, NC_000006.11:g.13977770C>T, NM_152737.4:c.420C>T, NM_152737.3:c.420C>T, XM_017010450.3:c.420C>T, XM_017010450.2:c.420C>T, XM_017010450.1:c.420C>T, NM_001165032.2:c.420C>T, NM_001165032.1:c.420C>T, NM_001165034.2:c.420C>T, NM_001165034.1:c.420C>T, NM_001165033.2:c.420C>T, NM_001165033.1:c.420C>T, XM_047418370.1:c.420C>T, XM_047418371.1:c.420C>T

Select item 14878362802.

rs1487836280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:13977239 (GRCh38)
6:13977470 (GRCh37)
Canonical SPDI:: NC_000006.12:13977238:T:C
Gene:: RNF182 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.13977239T>C, NC_000006.11:g.13977470T>C, NM_152737.4:c.120T>C, NM_152737.3:c.120T>C, XM_017010450.3:c.120T>C, XM_017010450.2:c.120T>C, XM_017010450.1:c.120T>C, NM_001165032.2:c.120T>C, NM_001165032.1:c.120T>C, NM_001165034.2:c.120T>C, NM_001165034.1:c.120T>C, NM_001165033.2:c.120T>C, NM_001165033.1:c.120T>C, XM_047418370.1:c.120T>C, XM_047418371.1:c.120T>C

Select item 14812958243.

rs1481295824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:13977600 (GRCh38)
6:13977831 (GRCh37)
Canonical SPDI:: NC_000006.12:13977599:G:A
Gene:: RNF182 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00003/1 (ALFA)
HGVS:: NC_000006.12:g.13977600G>A, NC_000006.11:g.13977831G>A, NM_152737.4:c.481G>A, NM_152737.3:c.481G>A, XM_017010450.3:c.481G>A, XM_017010450.2:c.481G>A, XM_017010450.1:c.481G>A, NM_001165032.2:c.481G>A, NM_001165032.1:c.481G>A, NM_001165034.2:c.481G>A, NM_001165034.1:c.481G>A, NM_001165033.2:c.481G>A, NM_001165033.1:c.481G>A, XM_047418370.1:c.481G>A, XM_047418371.1:c.481G>A, NP_689950.1:p.Val161Ile, XP_016865939.1:p.Val161Ile, NP_001158504.1:p.Val161Ile, NP_001158506.1:p.Val161Ile, NP_001158505.1:p.Val161Ile, XP_047274326.1:p.Val161Ile, XP_047274327.1:p.Val161Ile

Select item 14806910904.

rs1480691090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:13977538 (GRCh38)
6:13977769 (GRCh37)
Canonical SPDI:: NC_000006.12:13977537:G:A
Gene:: RNF182 (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_000006.12:g.13977538G>A, NC_000006.11:g.13977769G>A, NM_152737.4:c.419G>A, NM_152737.3:c.419G>A, XM_017010450.3:c.419G>A, XM_017010450.2:c.419G>A, XM_017010450.1:c.419G>A, NM_001165032.2:c.419G>A, NM_001165032.1:c.419G>A, NM_001165034.2:c.419G>A, NM_001165034.1:c.419G>A, NM_001165033.2:c.419G>A, NM_001165033.1:c.419G>A, XM_047418370.1:c.419G>A, XM_047418371.1:c.419G>A, NP_689950.1:p.Ser140Asn, XP_016865939.1:p.Ser140Asn, NP_001158504.1:p.Ser140Asn, NP_001158506.1:p.Ser140Asn, NP_001158505.1:p.Ser140Asn, XP_047274326.1:p.Ser140Asn, XP_047274327.1:p.Ser140Asn

Select item 14805458625.

rs1480545862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:13977253 (GRCh38)
6:13977484 (GRCh37)
Canonical SPDI:: NC_000006.12:13977252:C:T
Gene:: RNF182 (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)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.13977253C>T, NC_000006.11:g.13977484C>T, NM_152737.4:c.134C>T, NM_152737.3:c.134C>T, XM_017010450.3:c.134C>T, XM_017010450.2:c.134C>T, XM_017010450.1:c.134C>T, NM_001165032.2:c.134C>T, NM_001165032.1:c.134C>T, NM_001165034.2:c.134C>T, NM_001165034.1:c.134C>T, NM_001165033.2:c.134C>T, NM_001165033.1:c.134C>T, XM_047418370.1:c.134C>T, XM_047418371.1:c.134C>T, NP_689950.1:p.Ala45Val, XP_016865939.1:p.Ala45Val, NP_001158504.1:p.Ala45Val, NP_001158506.1:p.Ala45Val, NP_001158505.1:p.Ala45Val, XP_047274326.1:p.Ala45Val, XP_047274327.1:p.Ala45Val

Select item 14803475646.

rs1480347564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:13977803 (GRCh38)
6:13978034 (GRCh37)
Canonical SPDI:: NC_000006.12:13977802:G:A
Gene:: RNF182 (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_000006.12:g.13977803G>A, NC_000006.11:g.13978034G>A, NM_152737.4:c.684G>A, NM_152737.3:c.684G>A, XM_017010450.3:c.684G>A, XM_017010450.2:c.684G>A, XM_017010450.1:c.684G>A, NM_001165032.2:c.684G>A, NM_001165032.1:c.684G>A, NM_001165034.2:c.684G>A, NM_001165034.1:c.684G>A, NM_001165033.2:c.684G>A, NM_001165033.1:c.684G>A, XM_047418370.1:c.684G>A, XM_047418371.1:c.684G>A

Select item 14705685017.

rs1470568501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:13977816 (GRCh38)
6:13978047 (GRCh37)
Canonical SPDI:: NC_000006.12:13977815:C:G
Gene:: RNF182 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.13977816C>G, NC_000006.11:g.13978047C>G, NM_152737.4:c.697C>G, NM_152737.3:c.697C>G, XM_017010450.3:c.697C>G, XM_017010450.2:c.697C>G, XM_017010450.1:c.697C>G, NM_001165032.2:c.697C>G, NM_001165032.1:c.697C>G, NM_001165034.2:c.697C>G, NM_001165034.1:c.697C>G, NM_001165033.2:c.697C>G, NM_001165033.1:c.697C>G, XM_047418370.1:c.697C>G, XM_047418371.1:c.697C>G, NP_689950.1:p.Gln233Glu, XP_016865939.1:p.Gln233Glu, NP_001158504.1:p.Gln233Glu, NP_001158506.1:p.Gln233Glu, NP_001158505.1:p.Gln233Glu, XP_047274326.1:p.Gln233Glu, XP_047274327.1:p.Gln233Glu

Select item 14698683318.

rs1469868331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:13977163 (GRCh38)
6:13977394 (GRCh37)
Canonical SPDI:: NC_000006.12:13977162:C:T
Gene:: RNF182 (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_000006.12:g.13977163C>T, NC_000006.11:g.13977394C>T, NM_152737.4:c.44C>T, NM_152737.3:c.44C>T, XM_017010450.3:c.44C>T, XM_017010450.2:c.44C>T, XM_017010450.1:c.44C>T, NM_001165032.2:c.44C>T, NM_001165032.1:c.44C>T, NM_001165034.2:c.44C>T, NM_001165034.1:c.44C>T, NM_001165033.2:c.44C>T, NM_001165033.1:c.44C>T, XM_047418370.1:c.44C>T, XM_047418371.1:c.44C>T, NP_689950.1:p.Ser15Phe, XP_016865939.1:p.Ser15Phe, NP_001158504.1:p.Ser15Phe, NP_001158506.1:p.Ser15Phe, NP_001158505.1:p.Ser15Phe, XP_047274326.1:p.Ser15Phe, XP_047274327.1:p.Ser15Phe

Select item 14601212479.

rs1460121247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:13977733 (GRCh38)
6:13977964 (GRCh37)
Canonical SPDI:: NC_000006.12:13977732:T:C
Gene:: RNF182 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.13977733T>C, NC_000006.11:g.13977964T>C, NM_152737.4:c.614T>C, NM_152737.3:c.614T>C, XM_017010450.3:c.614T>C, XM_017010450.2:c.614T>C, XM_017010450.1:c.614T>C, NM_001165032.2:c.614T>C, NM_001165032.1:c.614T>C, NM_001165034.2:c.614T>C, NM_001165034.1:c.614T>C, NM_001165033.2:c.614T>C, NM_001165033.1:c.614T>C, XM_047418370.1:c.614T>C, XM_047418371.1:c.614T>C, NP_689950.1:p.Val205Ala, XP_016865939.1:p.Val205Ala, NP_001158504.1:p.Val205Ala, NP_001158506.1:p.Val205Ala, NP_001158505.1:p.Val205Ala, XP_047274326.1:p.Val205Ala, XP_047274327.1:p.Val205Ala

Select item 145275220610.

rs1452752206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:13977269 (GRCh38)
6:13977500 (GRCh37)
Canonical SPDI:: NC_000006.12:13977268:G:A
Gene:: RNF182 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000006.12:g.13977269G>A, NC_000006.11:g.13977500G>A, NM_152737.4:c.150G>A, NM_152737.3:c.150G>A, XM_017010450.3:c.150G>A, XM_017010450.2:c.150G>A, XM_017010450.1:c.150G>A, NM_001165032.2:c.150G>A, NM_001165032.1:c.150G>A, NM_001165034.2:c.150G>A, NM_001165034.1:c.150G>A, NM_001165033.2:c.150G>A, NM_001165033.1:c.150G>A, XM_047418370.1:c.150G>A, XM_047418371.1:c.150G>A

Select item 144901189411.

rs1449011894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:13977426 (GRCh38)
6:13977657 (GRCh37)
Canonical SPDI:: NC_000006.12:13977425:G:A
Gene:: RNF182 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.13977426G>A, NC_000006.11:g.13977657G>A, NM_152737.4:c.307G>A, NM_152737.3:c.307G>A, XM_017010450.3:c.307G>A, XM_017010450.2:c.307G>A, XM_017010450.1:c.307G>A, NM_001165032.2:c.307G>A, NM_001165032.1:c.307G>A, NM_001165034.2:c.307G>A, NM_001165034.1:c.307G>A, NM_001165033.2:c.307G>A, NM_001165033.1:c.307G>A, XM_047418370.1:c.307G>A, XM_047418371.1:c.307G>A, NP_689950.1:p.Glu103Lys, XP_016865939.1:p.Glu103Lys, NP_001158504.1:p.Glu103Lys, NP_001158506.1:p.Glu103Lys, NP_001158505.1:p.Glu103Lys, XP_047274326.1:p.Glu103Lys, XP_047274327.1:p.Glu103Lys

Select item 144758758412.

rs1447587584 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:13977535 (GRCh38)
6:13977766 (GRCh37)
Canonical SPDI:: NC_000006.12:13977534:A:C
Gene:: RNF182 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.13977535A>C, NC_000006.11:g.13977766A>C, NM_152737.4:c.416A>C, NM_152737.3:c.416A>C, XM_017010450.3:c.416A>C, XM_017010450.2:c.416A>C, XM_017010450.1:c.416A>C, NM_001165032.2:c.416A>C, NM_001165032.1:c.416A>C, NM_001165034.2:c.416A>C, NM_001165034.1:c.416A>C, NM_001165033.2:c.416A>C, NM_001165033.1:c.416A>C, XM_047418370.1:c.416A>C, XM_047418371.1:c.416A>C, NP_689950.1:p.Glu139Ala, XP_016865939.1:p.Glu139Ala, NP_001158504.1:p.Glu139Ala, NP_001158506.1:p.Glu139Ala, NP_001158505.1:p.Glu139Ala, XP_047274326.1:p.Glu139Ala, XP_047274327.1:p.Glu139Ala

Select item 143294920813.

rs1432949208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:13977844 (GRCh38)
6:13978075 (GRCh37)
Canonical SPDI:: NC_000006.12:13977843:G:A
Gene:: RNF182 (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_000006.12:g.13977844G>A, NC_000006.11:g.13978075G>A, NM_152737.4:c.725G>A, NM_152737.3:c.725G>A, XM_017010450.3:c.725G>A, XM_017010450.2:c.725G>A, XM_017010450.1:c.725G>A, NM_001165032.2:c.725G>A, NM_001165032.1:c.725G>A, NM_001165034.2:c.725G>A, NM_001165034.1:c.725G>A, NM_001165033.2:c.725G>A, NM_001165033.1:c.725G>A, XM_047418370.1:c.725G>A, XM_047418371.1:c.725G>A, NP_689950.1:p.Cys242Tyr, XP_016865939.1:p.Cys242Tyr, NP_001158504.1:p.Cys242Tyr, NP_001158506.1:p.Cys242Tyr, NP_001158505.1:p.Cys242Tyr, XP_047274326.1:p.Cys242Tyr, XP_047274327.1:p.Cys242Tyr

Select item 143216395314.

rs1432163953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:13977180 (GRCh38)
6:13977411 (GRCh37)
Canonical SPDI:: NC_000006.12:13977179:A:G
Gene:: RNF182 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.13977180A>G, NC_000006.11:g.13977411A>G, NM_152737.4:c.61A>G, NM_152737.3:c.61A>G, XM_017010450.3:c.61A>G, XM_017010450.2:c.61A>G, XM_017010450.1:c.61A>G, NM_001165032.2:c.61A>G, NM_001165032.1:c.61A>G, NM_001165034.2:c.61A>G, NM_001165034.1:c.61A>G, NM_001165033.2:c.61A>G, NM_001165033.1:c.61A>G, XM_047418370.1:c.61A>G, XM_047418371.1:c.61A>G, NP_689950.1:p.Lys21Glu, XP_016865939.1:p.Lys21Glu, NP_001158504.1:p.Lys21Glu, NP_001158506.1:p.Lys21Glu, NP_001158505.1:p.Lys21Glu, XP_047274326.1:p.Lys21Glu, XP_047274327.1:p.Lys21Glu

Select item 143191195915.

rs1431911959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:13977196 (GRCh38)
6:13977427 (GRCh37)
Canonical SPDI:: NC_000006.12:13977195:G:A
Gene:: RNF182 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.13977196G>A, NC_000006.11:g.13977427G>A, NM_152737.4:c.77G>A, NM_152737.3:c.77G>A, XM_017010450.3:c.77G>A, XM_017010450.2:c.77G>A, XM_017010450.1:c.77G>A, NM_001165032.2:c.77G>A, NM_001165032.1:c.77G>A, NM_001165034.2:c.77G>A, NM_001165034.1:c.77G>A, NM_001165033.2:c.77G>A, NM_001165033.1:c.77G>A, XM_047418370.1:c.77G>A, XM_047418371.1:c.77G>A, NP_689950.1:p.Arg26Gln, XP_016865939.1:p.Arg26Gln, NP_001158504.1:p.Arg26Gln, NP_001158506.1:p.Arg26Gln, NP_001158505.1:p.Arg26Gln, XP_047274326.1:p.Arg26Gln, XP_047274327.1:p.Arg26Gln

Select item 143113756316.

rs1431137563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:13977767 (GRCh38)
6:13977998 (GRCh37)
Canonical SPDI:: NC_000006.12:13977766:C:T
Gene:: RNF182 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.13977767C>T, NC_000006.11:g.13977998C>T, NM_152737.4:c.648C>T, NM_152737.3:c.648C>T, XM_017010450.3:c.648C>T, XM_017010450.2:c.648C>T, XM_017010450.1:c.648C>T, NM_001165032.2:c.648C>T, NM_001165032.1:c.648C>T, NM_001165034.2:c.648C>T, NM_001165034.1:c.648C>T, NM_001165033.2:c.648C>T, NM_001165033.1:c.648C>T, XM_047418370.1:c.648C>T, XM_047418371.1:c.648C>T

Select item 143102471917.

rs1431024719 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:13977510 (GRCh38)
6:13977741 (GRCh37)
Canonical SPDI:: NC_000006.12:13977509:A:G
Gene:: RNF182 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.13977510A>G, NC_000006.11:g.13977741A>G, NM_152737.4:c.391A>G, NM_152737.3:c.391A>G, XM_017010450.3:c.391A>G, XM_017010450.2:c.391A>G, XM_017010450.1:c.391A>G, NM_001165032.2:c.391A>G, NM_001165032.1:c.391A>G, NM_001165034.2:c.391A>G, NM_001165034.1:c.391A>G, NM_001165033.2:c.391A>G, NM_001165033.1:c.391A>G, XM_047418370.1:c.391A>G, XM_047418371.1:c.391A>G, NP_689950.1:p.Ile131Val, XP_016865939.1:p.Ile131Val, NP_001158504.1:p.Ile131Val, NP_001158506.1:p.Ile131Val, NP_001158505.1:p.Ile131Val, XP_047274326.1:p.Ile131Val, XP_047274327.1:p.Ile131Val

Select item 142936394518.

rs1429363945 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAG>- [Show Flanks]
Chromosome:: 6:13977356 (GRCh38)
6:13977587 (GRCh37)
Canonical SPDI:: NC_000006.12:13977352:TAGTAG:TAG
Gene:: RNF182 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAGTAG=0./0 (ALFA)
-=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.13977353TAG[1], NC_000006.11:g.13977584TAG[1], NM_152737.4:c.234TAG[1], NM_152737.3:c.234TAG[1], XM_017010450.3:c.234TAG[1], XM_017010450.2:c.234TAG[1], XM_017010450.1:c.234TAG[1], NM_001165032.2:c.234TAG[1], NM_001165032.1:c.234TAG[1], NM_001165034.2:c.234TAG[1], NM_001165034.1:c.234TAG[1], NM_001165033.2:c.234TAG[1], NM_001165033.1:c.234TAG[1], XM_047418370.1:c.234TAG[1], XM_047418371.1:c.234TAG[1], NP_689950.1:p.Ser80del, XP_016865939.1:p.Ser80del, NP_001158504.1:p.Ser80del, NP_001158506.1:p.Ser80del, NP_001158505.1:p.Ser80del, XP_047274326.1:p.Ser80del, XP_047274327.1:p.Ser80del

Select item 142848058119.

rs1428480581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:13977519 (GRCh38)
6:13977750 (GRCh37)
Canonical SPDI:: NC_000006.12:13977518:A:G
Gene:: RNF182 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.13977519A>G, NC_000006.11:g.13977750A>G, NM_152737.4:c.400A>G, NM_152737.3:c.400A>G, XM_017010450.3:c.400A>G, XM_017010450.2:c.400A>G, XM_017010450.1:c.400A>G, NM_001165032.2:c.400A>G, NM_001165032.1:c.400A>G, NM_001165034.2:c.400A>G, NM_001165034.1:c.400A>G, NM_001165033.2:c.400A>G, NM_001165033.1:c.400A>G, XM_047418370.1:c.400A>G, XM_047418371.1:c.400A>G, NP_689950.1:p.Met134Val, XP_016865939.1:p.Met134Val, NP_001158504.1:p.Met134Val, NP_001158506.1:p.Met134Val, NP_001158505.1:p.Met134Val, XP_047274326.1:p.Met134Val, XP_047274327.1:p.Met134Val

Select item 142617584020.

rs1426175840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:13977631 (GRCh38)
6:13977862 (GRCh37)
Canonical SPDI:: NC_000006.12:13977630:G:A
Gene:: RNF182 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000006.12:g.13977631G>A, NC_000006.11:g.13977862G>A, NM_152737.4:c.512G>A, NM_152737.3:c.512G>A, XM_017010450.3:c.512G>A, XM_017010450.2:c.512G>A, XM_017010450.1:c.512G>A, NM_001165032.2:c.512G>A, NM_001165032.1:c.512G>A, NM_001165034.2:c.512G>A, NM_001165034.1:c.512G>A, NM_001165033.2:c.512G>A, NM_001165033.1:c.512G>A, XM_047418370.1:c.512G>A, XM_047418371.1:c.512G>A, NP_689950.1:p.Trp171Ter, XP_016865939.1:p.Trp171Ter, NP_001158504.1:p.Trp171Ter, NP_001158506.1:p.Trp171Ter, NP_001158505.1:p.Trp171Ter, XP_047274326.1:p.Trp171Ter, XP_047274327.1:p.Trp171Ter

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 251

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity