SNP Links for Protein (Select 308737010) - SNP

Links from Protein

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Select item 14909453331.

rs1490945333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74556309 (GRCh38)
2:74783436 (GRCh37)
Canonical SPDI:: NC_000002.12:74556308:T:C
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74556309T>C, NC_000002.11:g.74783436T>C, NG_033047.1:g.2627A>G, NG_050617.1:g.13105T>C, NM_001381.5:c.641T>C, NM_001381.4:c.641T>C, NM_001381.3:c.641T>C, NM_001318867.2:c.608T>C, NM_001318867.1:c.608T>C, NM_001318866.2:c.224T>C, NM_001318866.1:c.224T>C, NM_001197260.2:c.224T>C, NM_001197260.1:c.224T>C, NM_001318868.2:c.456T>C, NM_001318868.1:c.456T>C, NM_001318869.2:c.-2T>C, NM_001318869.1:c.-2T>C, NP_001372.1:p.Val214Ala, NP_001305796.1:p.Val203Ala, NP_001305795.1:p.Val75Ala, NP_001184189.1:p.Val75Ala

Select item 14899604032.

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 14894405603.

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 14890146454.

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 14863548265.

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 14794973576.

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 14780445417.

rs1478044541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74556055 (GRCh38)
2:74783182 (GRCh37)
Canonical SPDI:: NC_000002.12:74556054:T:C
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74556055T>C, NC_000002.11:g.74783182T>C, NG_033047.1:g.2881A>G, NG_050617.1:g.12851T>C, NM_001381.5:c.616T>C, NM_001381.4:c.616T>C, NM_001381.3:c.616T>C, NM_001318867.2:c.583T>C, NM_001318867.1:c.583T>C, NM_001318866.2:c.199T>C, NM_001318866.1:c.199T>C, NM_001197260.2:c.199T>C, NM_001197260.1:c.199T>C

Select item 14712639628.

rs1471263962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74556069 (GRCh38)
2:74783196 (GRCh37)
Canonical SPDI:: NC_000002.12:74556068:C:T
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,intron_variant
HGVS:: NC_000002.12:g.74556069C>T, NC_000002.11:g.74783196C>T, NG_033047.1:g.2867G>A, NG_050617.1:g.12865C>T, NM_001381.5:c.630C>T, NM_001381.4:c.630C>T, NM_001381.3:c.630C>T, NM_001318867.2:c.597C>T, NM_001318867.1:c.597C>T, NM_001318866.2:c.213C>T, NM_001318866.1:c.213C>T, NM_001197260.2:c.213C>T, NM_001197260.1:c.213C>T

Select item 14685883669.

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 146348496810.

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 146264433911.

rs1462644339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:74556034 (GRCh38)
2:74783161 (GRCh37)
Canonical SPDI:: NC_000002.12:74556033:C:A
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000002.12:g.74556034C>A, NC_000002.11:g.74783161C>A, NG_033047.1:g.2902G>T, NG_050617.1:g.12830C>A, NM_001381.5:c.595C>A, NM_001381.4:c.595C>A, NM_001381.3:c.595C>A, NM_001318867.2:c.562C>A, NM_001318867.1:c.562C>A, NM_001318866.2:c.178C>A, NM_001318866.1:c.178C>A, NM_001197260.2:c.178C>A, NM_001197260.1:c.178C>A, NP_001372.1:p.Leu199Met, NP_001305796.1:p.Leu188Met, NP_001305795.1:p.Leu60Met, NP_001184189.1:p.Leu60Met

Select item 146183359612.

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 145501769413.

rs1455017694 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:74556052 (GRCh38)
2:74783180 (GRCh37)
Canonical SPDI:: NC_000002.12:74556052:T:TT
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00008/1 (GoESP)
HGVS:: NC_000002.12:g.74556053dup, NC_000002.11:g.74783180dup, NG_033047.1:g.2883dup, NG_050617.1:g.12849dup, NM_001381.5:c.614dup, NM_001381.4:c.614dup, NM_001381.3:c.614dup, NM_001318867.2:c.581dup, NM_001318867.1:c.581dup, NM_001318866.2:c.197dup, NM_001318866.1:c.197dup, NM_001197260.2:c.197dup, NM_001197260.1:c.197dup, NP_001372.1:p.Leu206fs, NP_001305796.1:p.Leu195fs, NP_001305795.1:p.Leu67fs, NP_001184189.1:p.Leu67fs

Select item 145410414914.

rs1454104149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74555986 (GRCh38)
2:74783113 (GRCh37)
Canonical SPDI:: NC_000002.12:74555985:C:T
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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_000002.12:g.74555986C>T, NC_000002.11:g.74783113C>T, NG_033047.1:g.2950G>A, NG_050617.1:g.12782C>T, NM_001381.5:c.547C>T, NM_001381.4:c.547C>T, NM_001381.3:c.547C>T, NM_001318867.2:c.514C>T, NM_001318867.1:c.514C>T, NM_001318866.2:c.130C>T, NM_001318866.1:c.130C>T, NM_001197260.2:c.130C>T, NM_001197260.1:c.130C>T

Select item 145171814115.

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 144638983316.

rs1446389833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:74555969 (GRCh38)
2:74783096 (GRCh37)
Canonical SPDI:: NC_000002.12:74555968:G:C
Gene:: DOK1 (Varview), LOXL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74555969G>C, NC_000002.11:g.74783096G>C, NG_033047.1:g.2967C>G, NG_050617.1:g.12765G>C, NM_001381.5:c.530G>C, NM_001381.4:c.530G>C, NM_001381.3:c.530G>C, NM_001318867.2:c.497G>C, NM_001318867.1:c.497G>C, NM_001318866.2:c.113G>C, NM_001318866.1:c.113G>C, NM_001197260.2:c.113G>C, NM_001197260.1:c.113G>C, NP_001372.1:p.Arg177Thr, NP_001305796.1:p.Arg166Thr, NP_001305795.1:p.Arg38Thr, NP_001184189.1:p.Arg38Thr

Select item 143597742917.

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 143473821318.

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 143221410519.

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 143105572020.

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

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