SNP Links for Protein (Select 974141091) - SNP

Links from Protein

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Select item 14899604031.

rs1489960403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:74556933 (GRCh38)
2:74784060 (GRCh37)
Canonical SPDI:: NC_000002.12:74556932:C:G,NC_000002.12:74556932:C:T
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74556933C>G, NC_000002.12:g.74556933C>T, NC_000002.11:g.74784060C>G, NC_000002.11:g.74784060C>T, NG_033047.1:g.2003G>C, NG_033047.1:g.2003G>A, NG_050617.1:g.13729C>G, NG_050617.1:g.13729C>T, NM_001381.5:c.1265C>G, NM_001381.5:c.1265C>T, NM_001381.4:c.1265C>G, NM_001381.4:c.1265C>T, NM_001381.3:c.1265C>G, NM_001381.3:c.1265C>T, NM_001318867.2:c.1232C>G, NM_001318867.2:c.1232C>T, NM_001318867.1:c.1232C>G, NM_001318867.1:c.1232C>T, NM_001318866.2:c.848C>G, NM_001318866.2:c.848C>T, NM_001318866.1:c.848C>G, NM_001318866.1:c.848C>T, NM_001197260.2:c.848C>G, NM_001197260.2:c.848C>T, NM_001197260.1:c.848C>G, NM_001197260.1:c.848C>T, NM_001318868.2:c.*546C>G, NM_001318868.2:c.*546C>T, NM_001318868.1:c.*546C>G, NM_001318868.1:c.*546C>T, NM_001318869.2:c.623C>G, NM_001318869.2:c.623C>T, NM_001318869.1:c.623C>G, NM_001318869.1:c.623C>T, NP_001372.1:p.Ala422Gly, NP_001372.1:p.Ala422Val, NP_001305796.1:p.Ala411Gly, NP_001305796.1:p.Ala411Val, NP_001305795.1:p.Ala283Gly, NP_001305795.1:p.Ala283Val, NP_001184189.1:p.Ala283Gly, NP_001184189.1:p.Ala283Val, NP_001305798.1:p.Ala208Gly, NP_001305798.1:p.Ala208Val

Select item 14894405602.

rs1489440560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74556827 (GRCh38)
2:74783954 (GRCh37)
Canonical SPDI:: NC_000002.12:74556826:T:C
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.74556827T>C, NC_000002.11:g.74783954T>C, NG_033047.1:g.2109A>G, NG_050617.1:g.13623T>C, NM_001381.5:c.1159T>C, NM_001381.4:c.1159T>C, NM_001381.3:c.1159T>C, NM_001318867.2:c.1126T>C, NM_001318867.1:c.1126T>C, NM_001318866.2:c.742T>C, NM_001318866.1:c.742T>C, NM_001197260.2:c.742T>C, NM_001197260.1:c.742T>C, NM_001318868.2:c.*440T>C, NM_001318868.1:c.*440T>C, NM_001318869.2:c.517T>C, NM_001318869.1:c.517T>C, NP_001372.1:p.Trp387Arg, NP_001305796.1:p.Trp376Arg, NP_001305795.1:p.Trp248Arg, NP_001184189.1:p.Trp248Arg, NP_001305798.1:p.Trp173Arg

Select item 14890146453.

rs1489014645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74556328 (GRCh38)
2:74783455 (GRCh37)
Canonical SPDI:: NC_000002.12:74556327:C:T
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000002.12:g.74556328C>T, NC_000002.11:g.74783455C>T, NG_033047.1:g.2608G>A, NG_050617.1:g.13124C>T, NM_001381.5:c.660C>T, NM_001381.4:c.660C>T, NM_001381.3:c.660C>T, NM_001318867.2:c.627C>T, NM_001318867.1:c.627C>T, NM_001318866.2:c.243C>T, NM_001318866.1:c.243C>T, NM_001197260.2:c.243C>T, NM_001197260.1:c.243C>T, NM_001318868.2:c.475C>T, NM_001318868.1:c.475C>T, NM_001318869.2:c.18C>T, NM_001318869.1:c.18C>T, NP_001305797.1:p.Arg159Trp

Select item 14863548264.

rs1486354826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74557093 (GRCh38)
2:74784220 (GRCh37)
Canonical SPDI:: NC_000002.12:74557092:C:T
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.74557093C>T, NC_000002.11:g.74784220C>T, NG_033047.1:g.1843G>A, NG_050617.1:g.13889C>T, NM_001381.5:c.1425C>T, NM_001381.4:c.1425C>T, NM_001381.3:c.1425C>T, NM_001318867.2:c.1392C>T, NM_001318867.1:c.1392C>T, NM_001318866.2:c.1008C>T, NM_001318866.1:c.1008C>T, NM_001197260.2:c.1008C>T, NM_001197260.1:c.1008C>T, NM_001318868.2:c.*706C>T, NM_001318868.1:c.*706C>T, NM_001318869.2:c.783C>T, NM_001318869.1:c.783C>T

Select item 14794973575.

rs1479497357 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74556457 (GRCh38)
2:74783584 (GRCh37)
Canonical SPDI:: NC_000002.12:74556456:T:C
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000002.12:g.74556457T>C, NC_000002.11:g.74783584T>C, NG_033047.1:g.2479A>G, NG_050617.1:g.13253T>C, NM_001381.5:c.789T>C, NM_001381.4:c.789T>C, NM_001381.3:c.789T>C, NM_001318867.2:c.756T>C, NM_001318867.1:c.756T>C, NM_001318866.2:c.372T>C, NM_001318866.1:c.372T>C, NM_001197260.2:c.372T>C, NM_001197260.1:c.372T>C, NM_001318868.2:c.*70T>C, NM_001318868.1:c.*70T>C, NM_001318869.2:c.147T>C, NM_001318869.1:c.147T>C

Select item 14685883666.

rs1468588366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:74556921 (GRCh38)
2:74784048 (GRCh37)
Canonical SPDI:: NC_000002.12:74556920:A:G
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74556921A>G, NC_000002.11:g.74784048A>G, NG_033047.1:g.2015T>C, NG_050617.1:g.13717A>G, NM_001381.5:c.1253A>G, NM_001381.4:c.1253A>G, NM_001381.3:c.1253A>G, NM_001318867.2:c.1220A>G, NM_001318867.1:c.1220A>G, NM_001318866.2:c.836A>G, NM_001318866.1:c.836A>G, NM_001197260.2:c.836A>G, NM_001197260.1:c.836A>G, NM_001318868.2:c.*534A>G, NM_001318868.1:c.*534A>G, NM_001318869.2:c.611A>G, NM_001318869.1:c.611A>G, NP_001372.1:p.Lys418Arg, NP_001305796.1:p.Lys407Arg, NP_001305795.1:p.Lys279Arg, NP_001184189.1:p.Lys279Arg, NP_001305798.1:p.Lys204Arg

Select item 14634849687.

rs1463484968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:74556960 (GRCh38)
2:74784087 (GRCh37)
Canonical SPDI:: NC_000002.12:74556959:C:G
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.74556960C>G, NC_000002.11:g.74784087C>G, NG_033047.1:g.1976G>C, NG_050617.1:g.13756C>G, NM_001381.5:c.1292C>G, NM_001381.4:c.1292C>G, NM_001381.3:c.1292C>G, NM_001318867.2:c.1259C>G, NM_001318867.1:c.1259C>G, NM_001318866.2:c.875C>G, NM_001318866.1:c.875C>G, NM_001197260.2:c.875C>G, NM_001197260.1:c.875C>G, NM_001318868.2:c.*573C>G, NM_001318868.1:c.*573C>G, NM_001318869.2:c.650C>G, NM_001318869.1:c.650C>G, NP_001372.1:p.Pro431Arg, NP_001305796.1:p.Pro420Arg, NP_001305795.1:p.Pro292Arg, NP_001184189.1:p.Pro292Arg, NP_001305798.1:p.Pro217Arg

Select item 14618335968.

rs1461833596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74556858 (GRCh38)
2:74783985 (GRCh37)
Canonical SPDI:: NC_000002.12:74556857:G:A
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74556858G>A, NC_000002.11:g.74783985G>A, NG_033047.1:g.2078C>T, NG_050617.1:g.13654G>A, NM_001381.5:c.1190G>A, NM_001381.4:c.1190G>A, NM_001381.3:c.1190G>A, NM_001318867.2:c.1157G>A, NM_001318867.1:c.1157G>A, NM_001318866.2:c.773G>A, NM_001318866.1:c.773G>A, NM_001197260.2:c.773G>A, NM_001197260.1:c.773G>A, NM_001318868.2:c.*471G>A, NM_001318868.1:c.*471G>A, NM_001318869.2:c.548G>A, NM_001318869.1:c.548G>A, NP_001372.1:p.Gly397Asp, NP_001305796.1:p.Gly386Asp, NP_001305795.1:p.Gly258Asp, NP_001184189.1:p.Gly258Asp, NP_001305798.1:p.Gly183Asp

Select item 14517181419.

rs1451718141 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGGACTCCC>- [Show Flanks]
Chromosome:: 2:74556599 (GRCh38)
2:74783726 (GRCh37)
Canonical SPDI:: NC_000002.12:74556596:CCCAGGACTCCC:CC
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74556599_74556608del, NC_000002.11:g.74783726_74783735del, NG_033047.1:g.2330_2339del, NG_050617.1:g.13395_13404del, NM_001381.5:c.931_940del, NM_001381.4:c.931_940del, NM_001381.3:c.931_940del, NM_001318867.2:c.898_907del, NM_001318867.1:c.898_907del, NM_001318866.2:c.514_523del, NM_001318866.1:c.514_523del, NM_001197260.2:c.514_523del, NM_001197260.1:c.514_523del, NM_001318868.2:c.*212_*221del, NM_001318868.1:c.*212_*221del, NM_001318869.2:c.289_298del, NM_001318869.1:c.289_298del, NP_001372.1:p.Gln311fs, NP_001305796.1:p.Gln300fs, NP_001305795.1:p.Gln172fs, NP_001184189.1:p.Gln172fs, NP_001305798.1:p.Gln97fs

Select item 143597742910.

rs1435977429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:74557009 (GRCh38)
2:74784136 (GRCh37)
Canonical SPDI:: NC_000002.12:74557008:C:G,NC_000002.12:74557008:C:T
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74557009C>G, NC_000002.12:g.74557009C>T, NC_000002.11:g.74784136C>G, NC_000002.11:g.74784136C>T, NG_033047.1:g.1927G>C, NG_033047.1:g.1927G>A, NG_050617.1:g.13805C>G, NG_050617.1:g.13805C>T, NM_001381.5:c.1341C>G, NM_001381.5:c.1341C>T, NM_001381.4:c.1341C>G, NM_001381.4:c.1341C>T, NM_001381.3:c.1341C>G, NM_001381.3:c.1341C>T, NM_001318867.2:c.1308C>G, NM_001318867.2:c.1308C>T, NM_001318867.1:c.1308C>G, NM_001318867.1:c.1308C>T, NM_001318866.2:c.924C>G, NM_001318866.2:c.924C>T, NM_001318866.1:c.924C>G, NM_001318866.1:c.924C>T, NM_001197260.2:c.924C>G, NM_001197260.2:c.924C>T, NM_001197260.1:c.924C>G, NM_001197260.1:c.924C>T, NM_001318868.2:c.*622C>G, NM_001318868.2:c.*622C>T, NM_001318868.1:c.*622C>G, NM_001318868.1:c.*622C>T, NM_001318869.2:c.699C>G, NM_001318869.2:c.699C>T, NM_001318869.1:c.699C>G, NM_001318869.1:c.699C>T

Select item 143473821311.

rs1434738213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:74556505 (GRCh38)
2:74783632 (GRCh37)
Canonical SPDI:: NC_000002.12:74556504:G:A,NC_000002.12:74556504:G:T
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74556505G>A, NC_000002.12:g.74556505G>T, NC_000002.11:g.74783632G>A, NC_000002.11:g.74783632G>T, NG_033047.1:g.2431C>T, NG_033047.1:g.2431C>A, NG_050617.1:g.13301G>A, NG_050617.1:g.13301G>T, NM_001381.5:c.837G>A, NM_001381.5:c.837G>T, NM_001381.4:c.837G>A, NM_001381.4:c.837G>T, NM_001381.3:c.837G>A, NM_001381.3:c.837G>T, NM_001318867.2:c.804G>A, NM_001318867.2:c.804G>T, NM_001318867.1:c.804G>A, NM_001318867.1:c.804G>T, NM_001318866.2:c.420G>A, NM_001318866.2:c.420G>T, NM_001318866.1:c.420G>A, NM_001318866.1:c.420G>T, NM_001197260.2:c.420G>A, NM_001197260.2:c.420G>T, NM_001197260.1:c.420G>A, NM_001197260.1:c.420G>T, NM_001318868.2:c.*118G>A, NM_001318868.2:c.*118G>T, NM_001318868.1:c.*118G>A, NM_001318868.1:c.*118G>T, NM_001318869.2:c.195G>A, NM_001318869.2:c.195G>T, NM_001318869.1:c.195G>A, NM_001318869.1:c.195G>T, NP_001372.1:p.Leu279Phe, NP_001305796.1:p.Leu268Phe, NP_001305795.1:p.Leu140Phe, NP_001184189.1:p.Leu140Phe, NP_001305798.1:p.Leu65Phe

Select item 143221410512.

rs1432214105 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGGCTCTCTAGAGTAGGGACTG>- [Show Flanks]
Chromosome:: 2:74557057 (GRCh38)
2:74784184 (GRCh37)
Canonical SPDI:: NC_000002.12:74557049:GGGACTGTGGGCTCTCTAGAGTAGGGACTG:GGGACTG
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,inframe_indel,upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: GGGACTG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.74557057_74557079del, NC_000002.11:g.74784184_74784206del, NG_033047.1:g.1864_1886del, NG_050617.1:g.13853_13875del, NM_001381.5:c.1389_1411del, NM_001381.4:c.1389_1411del, NM_001381.3:c.1389_1411del, NM_001318867.2:c.1356_1378del, NM_001318867.1:c.1356_1378del, NM_001318866.2:c.972_994del, NM_001318866.1:c.972_994del, NM_001197260.2:c.972_994del, NM_001197260.1:c.972_994del, NM_001318868.2:c.*670_*692del, NM_001318868.1:c.*670_*692del, NM_001318869.2:c.747_769del, NM_001318869.1:c.747_769del, NP_001372.1:p.Cys463_Asp471delinsTer, NP_001305796.1:p.Cys452_Asp460delinsTer, NP_001305795.1:p.Cys324_Asp332delinsTer, NP_001184189.1:p.Cys324_Asp332delinsTer, NP_001305798.1:p.Cys249_Asp257delinsTer

Select item 143105572013.

rs1431055720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:74556896 (GRCh38)
2:74784023 (GRCh37)
Canonical SPDI:: NC_000002.12:74556895:G:A,NC_000002.12:74556895:G:C
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.74556896G>A, NC_000002.12:g.74556896G>C, NC_000002.11:g.74784023G>A, NC_000002.11:g.74784023G>C, NG_033047.1:g.2040C>T, NG_033047.1:g.2040C>G, NG_050617.1:g.13692G>A, NG_050617.1:g.13692G>C, NM_001381.5:c.1228G>A, NM_001381.5:c.1228G>C, NM_001381.4:c.1228G>A, NM_001381.4:c.1228G>C, NM_001381.3:c.1228G>A, NM_001381.3:c.1228G>C, NM_001318867.2:c.1195G>A, NM_001318867.2:c.1195G>C, NM_001318867.1:c.1195G>A, NM_001318867.1:c.1195G>C, NM_001318866.2:c.811G>A, NM_001318866.2:c.811G>C, NM_001318866.1:c.811G>A, NM_001318866.1:c.811G>C, NM_001197260.2:c.811G>A, NM_001197260.2:c.811G>C, NM_001197260.1:c.811G>A, NM_001197260.1:c.811G>C, NM_001318868.2:c.*509G>A, NM_001318868.2:c.*509G>C, NM_001318868.1:c.*509G>A, NM_001318868.1:c.*509G>C, NM_001318869.2:c.586G>A, NM_001318869.2:c.586G>C, NM_001318869.1:c.586G>A, NM_001318869.1:c.586G>C, NP_001372.1:p.Ala410Thr, NP_001372.1:p.Ala410Pro, NP_001305796.1:p.Ala399Thr, NP_001305796.1:p.Ala399Pro, NP_001305795.1:p.Ala271Thr, NP_001305795.1:p.Ala271Pro, NP_001184189.1:p.Ala271Thr, NP_001184189.1:p.Ala271Pro, NP_001305798.1:p.Ala196Thr, NP_001305798.1:p.Ala196Pro

Select item 142837914114.

rs1428379141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74556577 (GRCh38)
2:74783704 (GRCh37)
Canonical SPDI:: NC_000002.12:74556576:G:A
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74556577G>A, NC_000002.11:g.74783704G>A, NG_033047.1:g.2359C>T, NG_050617.1:g.13373G>A, NM_001381.5:c.909G>A, NM_001381.4:c.909G>A, NM_001381.3:c.909G>A, NM_001318867.2:c.876G>A, NM_001318867.1:c.876G>A, NM_001318866.2:c.492G>A, NM_001318866.1:c.492G>A, NM_001197260.2:c.492G>A, NM_001197260.1:c.492G>A, NM_001318868.2:c.*190G>A, NM_001318868.1:c.*190G>A, NM_001318869.2:c.267G>A, NM_001318869.1:c.267G>A

Select item 142828610615.

rs1428286106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74556805 (GRCh38)
2:74783932 (GRCh37)
Canonical SPDI:: NC_000002.12:74556804:G:A
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (KOREAN)
A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.74556805G>A, NC_000002.11:g.74783932G>A, NG_033047.1:g.2131C>T, NG_050617.1:g.13601G>A, NM_001381.5:c.1137G>A, NM_001381.4:c.1137G>A, NM_001381.3:c.1137G>A, NM_001318867.2:c.1104G>A, NM_001318867.1:c.1104G>A, NM_001318866.2:c.720G>A, NM_001318866.1:c.720G>A, NM_001197260.2:c.720G>A, NM_001197260.1:c.720G>A, NM_001318868.2:c.*418G>A, NM_001318868.1:c.*418G>A, NM_001318869.2:c.495G>A, NM_001318869.1:c.495G>A

Select item 142739548016.

rs1427395480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:74557083 (GRCh38)
2:74784210 (GRCh37)
Canonical SPDI:: NC_000002.12:74557082:A:G
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.74557083A>G, NC_000002.11:g.74784210A>G, NG_033047.1:g.1853T>C, NG_050617.1:g.13879A>G, NM_001381.5:c.1415A>G, NM_001381.4:c.1415A>G, NM_001381.3:c.1415A>G, NM_001318867.2:c.1382A>G, NM_001318867.1:c.1382A>G, NM_001318866.2:c.998A>G, NM_001318866.1:c.998A>G, NM_001197260.2:c.998A>G, NM_001197260.1:c.998A>G, NM_001318868.2:c.*696A>G, NM_001318868.1:c.*696A>G, NM_001318869.2:c.773A>G, NM_001318869.1:c.773A>G, NP_001372.1:p.Lys472Arg, NP_001305796.1:p.Lys461Arg, NP_001305795.1:p.Lys333Arg, NP_001184189.1:p.Lys333Arg, NP_001305798.1:p.Lys258Arg

Select item 142523919417.

rs1425239194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:74556570 (GRCh38)
2:74783697 (GRCh37)
Canonical SPDI:: NC_000002.12:74556569:A:T
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74556570A>T, NC_000002.11:g.74783697A>T, NG_033047.1:g.2366T>A, NG_050617.1:g.13366A>T, NM_001381.5:c.902A>T, NM_001381.4:c.902A>T, NM_001381.3:c.902A>T, NM_001318867.2:c.869A>T, NM_001318867.1:c.869A>T, NM_001318866.2:c.485A>T, NM_001318866.1:c.485A>T, NM_001197260.2:c.485A>T, NM_001197260.1:c.485A>T, NM_001318868.2:c.*183A>T, NM_001318868.1:c.*183A>T, NM_001318869.2:c.260A>T, NM_001318869.1:c.260A>T, NP_001372.1:p.Asp301Val, NP_001305796.1:p.Asp290Val, NP_001305795.1:p.Asp162Val, NP_001184189.1:p.Asp162Val, NP_001305798.1:p.Asp87Val

Select item 142365227118.

rs1423652271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:74557052 (GRCh38)
2:74784179 (GRCh37)
Canonical SPDI:: NC_000002.12:74557051:G:C
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74557052G>C, NC_000002.11:g.74784179G>C, NG_033047.1:g.1884C>G, NG_050617.1:g.13848G>C, NM_001381.5:c.1384G>C, NM_001381.4:c.1384G>C, NM_001381.3:c.1384G>C, NM_001318867.2:c.1351G>C, NM_001318867.1:c.1351G>C, NM_001318866.2:c.967G>C, NM_001318866.1:c.967G>C, NM_001197260.2:c.967G>C, NM_001197260.1:c.967G>C, NM_001318868.2:c.*665G>C, NM_001318868.1:c.*665G>C, NM_001318869.2:c.742G>C, NM_001318869.1:c.742G>C, NP_001372.1:p.Asp462His, NP_001305796.1:p.Asp451His, NP_001305795.1:p.Asp323His, NP_001184189.1:p.Asp323His, NP_001305798.1:p.Asp248His

Select item 141898595719.

rs1418985957 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74556321 (GRCh38)
2:74783448 (GRCh37)
Canonical SPDI:: NC_000002.12:74556320:T:C
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.74556321T>C, NC_000002.11:g.74783448T>C, NG_033047.1:g.2615A>G, NG_050617.1:g.13117T>C, NM_001381.5:c.653T>C, NM_001381.4:c.653T>C, NM_001381.3:c.653T>C, NM_001318867.2:c.620T>C, NM_001318867.1:c.620T>C, NM_001318866.2:c.236T>C, NM_001318866.1:c.236T>C, NM_001197260.2:c.236T>C, NM_001197260.1:c.236T>C, NM_001318868.2:c.468T>C, NM_001318868.1:c.468T>C, NM_001318869.2:c.11T>C, NM_001318869.1:c.11T>C, NP_001372.1:p.Phe218Ser, NP_001305796.1:p.Phe207Ser, NP_001305795.1:p.Phe79Ser, NP_001184189.1:p.Phe79Ser, NP_001305798.1:p.Phe4Ser

Select item 141847125420.

rs1418471254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:74556650 (GRCh38)
2:74783777 (GRCh37)
Canonical SPDI:: NC_000002.12:74556649:G:C
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.74556650G>C, NC_000002.11:g.74783777G>C, NG_033047.1:g.2286C>G, NG_050617.1:g.13446G>C, NM_001381.5:c.982G>C, NM_001381.4:c.982G>C, NM_001381.3:c.982G>C, NM_001318867.2:c.949G>C, NM_001318867.1:c.949G>C, NM_001318866.2:c.565G>C, NM_001318866.1:c.565G>C, NM_001197260.2:c.565G>C, NM_001197260.1:c.565G>C, NM_001318868.2:c.*263G>C, NM_001318868.1:c.*263G>C, NM_001318869.2:c.340G>C, NM_001318869.1:c.340G>C, NP_001372.1:p.Glu328Gln, NP_001305796.1:p.Glu317Gln, NP_001305795.1:p.Glu189Gln, NP_001184189.1:p.Glu189Gln, NP_001305798.1:p.Glu114Gln

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