SNP Links for Protein (Select 1034644180) - SNP

Links from Protein

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Select item 14909446781.

rs1490944678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:151521461 (GRCh38)
5:150901022 (GRCh37)
Canonical SPDI:: NC_000005.10:151521460:T:C
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151521461T>C, NC_000005.9:g.150901022T>C, NG_046979.1:g.135680A>G, NM_001447.3:c.11132A>G, NM_001447.2:c.11132A>G, XM_011537600.3:c.11132A>G, XM_011537600.2:c.11132A>G, XM_011537600.1:c.11132A>G, XM_017009224.2:c.11132A>G, XM_017009224.1:c.11132A>G, XM_011537603.2:c.11132A>G, XM_011537603.1:c.11132A>G, XM_017009225.2:c.11132A>G, XM_017009225.1:c.11132A>G, XM_047416934.1:c.11132A>G, NP_001438.1:p.Glu3711Gly, XP_011535902.1:p.Glu3711Gly, XP_016864713.1:p.Glu3711Gly, XP_011535905.1:p.Glu3711Gly, XP_016864714.1:p.Glu3711Gly, XP_047272890.1:p.Glu3711Gly

Select item 14907633822.

rs1490763382 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:151545421 (GRCh38)
5:150924982 (GRCh37)
Canonical SPDI:: NC_000005.10:151545420:T:A
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_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_000005.10:g.151545421T>A, NC_000005.9:g.150924982T>A, NG_046979.1:g.111720A>T, NM_001447.3:c.5706A>T, NM_001447.2:c.5706A>T, XM_011537600.3:c.5706A>T, XM_011537600.2:c.5706A>T, XM_011537600.1:c.5706A>T, XM_017009224.2:c.5706A>T, XM_017009224.1:c.5706A>T, XM_011537603.2:c.5706A>T, XM_011537603.1:c.5706A>T, XM_017009225.2:c.5706A>T, XM_017009225.1:c.5706A>T, XM_017009227.2:c.5706A>T, XM_017009227.1:c.5706A>T, XM_047416934.1:c.5706A>T, XR_007058588.1:n.5893A>T, NP_001438.1:p.Glu1902Asp, XP_011535902.1:p.Glu1902Asp, XP_016864713.1:p.Glu1902Asp, XP_011535905.1:p.Glu1902Asp, XP_016864714.1:p.Glu1902Asp, XP_016864716.1:p.Glu1902Asp, XP_047272890.1:p.Glu1902Asp

Select item 14905783363.

rs1490578336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:151531884 (GRCh38)
5:150911445 (GRCh37)
Canonical SPDI:: NC_000005.10:151531883:C:A,NC_000005.10:151531883:C:G,NC_000005.10:151531883:C:T
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.151531884C>A, NC_000005.10:g.151531884C>G, NC_000005.10:g.151531884C>T, NC_000005.9:g.150911445C>A, NC_000005.9:g.150911445C>G, NC_000005.9:g.150911445C>T, NG_046979.1:g.125257G>T, NG_046979.1:g.125257G>C, NG_046979.1:g.125257G>A, NM_001447.3:c.9514G>T, NM_001447.3:c.9514G>C, NM_001447.3:c.9514G>A, NM_001447.2:c.9514G>T, NM_001447.2:c.9514G>C, NM_001447.2:c.9514G>A, XM_011537600.3:c.9514G>T, XM_011537600.3:c.9514G>C, XM_011537600.3:c.9514G>A, XM_011537600.2:c.9514G>T, XM_011537600.2:c.9514G>C, XM_011537600.2:c.9514G>A, XM_011537600.1:c.9514G>T, XM_011537600.1:c.9514G>C, XM_011537600.1:c.9514G>A, XM_017009224.2:c.9514G>T, XM_017009224.2:c.9514G>C, XM_017009224.2:c.9514G>A, XM_017009224.1:c.9514G>T, XM_017009224.1:c.9514G>C, XM_017009224.1:c.9514G>A, XM_011537603.2:c.9514G>T, XM_011537603.2:c.9514G>C, XM_011537603.2:c.9514G>A, XM_011537603.1:c.9514G>T, XM_011537603.1:c.9514G>C, XM_011537603.1:c.9514G>A, XM_017009225.2:c.9514G>T, XM_017009225.2:c.9514G>C, XM_017009225.2:c.9514G>A, XM_017009225.1:c.9514G>T, XM_017009225.1:c.9514G>C, XM_017009225.1:c.9514G>A, XM_047416934.1:c.9514G>T, XM_047416934.1:c.9514G>C, XM_047416934.1:c.9514G>A, NP_001438.1:p.Glu3172Ter, NP_001438.1:p.Glu3172Gln, NP_001438.1:p.Glu3172Lys, XP_011535902.1:p.Glu3172Ter, XP_011535902.1:p.Glu3172Gln, XP_011535902.1:p.Glu3172Lys, XP_016864713.1:p.Glu3172Ter, XP_016864713.1:p.Glu3172Gln, XP_016864713.1:p.Glu3172Lys, XP_011535905.1:p.Glu3172Ter, XP_011535905.1:p.Glu3172Gln, XP_011535905.1:p.Glu3172Lys, XP_016864714.1:p.Glu3172Ter, XP_016864714.1:p.Glu3172Gln, XP_016864714.1:p.Glu3172Lys, XP_047272890.1:p.Glu3172Ter, XP_047272890.1:p.Glu3172Gln, XP_047272890.1:p.Glu3172Lys

Select item 14900612104.

rs1490061210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:151543373 (GRCh38)
5:150922934 (GRCh37)
Canonical SPDI:: NC_000005.10:151543372:A:C
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151543373A>C, NC_000005.9:g.150922934A>C, NG_046979.1:g.113768T>G, NM_001447.3:c.7754T>G, NM_001447.2:c.7754T>G, XM_011537600.3:c.7754T>G, XM_011537600.2:c.7754T>G, XM_011537600.1:c.7754T>G, XM_017009224.2:c.7754T>G, XM_017009224.1:c.7754T>G, XM_011537603.2:c.7754T>G, XM_011537603.1:c.7754T>G, XM_017009225.2:c.7754T>G, XM_017009225.1:c.7754T>G, XM_017009227.2:c.7754T>G, XM_017009227.1:c.7754T>G, XM_047416934.1:c.7754T>G, XR_007058588.1:n.7941T>G, NP_001438.1:p.Phe2585Cys, XP_011535902.1:p.Phe2585Cys, XP_016864713.1:p.Phe2585Cys, XP_011535905.1:p.Phe2585Cys, XP_016864714.1:p.Phe2585Cys, XP_016864716.1:p.Phe2585Cys, XP_047272890.1:p.Phe2585Cys

Select item 14900363295.

rs1490036329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:151563400 (GRCh38)
5:150942961 (GRCh37)
Canonical SPDI:: NC_000005.10:151563399:T:C
Gene:: FAT2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000005.10:g.151563400T>C, NC_000005.9:g.150942961T>C, NG_046979.1:g.93741A>G, NM_001447.3:c.3499A>G, NM_001447.2:c.3499A>G, XM_011537600.3:c.3499A>G, XM_011537600.2:c.3499A>G, XM_011537600.1:c.3499A>G, XM_017009224.2:c.3499A>G, XM_017009224.1:c.3499A>G, XM_011537603.2:c.3499A>G, XM_011537603.1:c.3499A>G, XM_017009225.2:c.3499A>G, XM_017009225.1:c.3499A>G, XM_017009227.2:c.3499A>G, XM_017009227.1:c.3499A>G, XM_047416934.1:c.3499A>G, XR_007058588.1:n.3686A>G, NP_001438.1:p.Ser1167Gly, XP_011535902.1:p.Ser1167Gly, XP_016864713.1:p.Ser1167Gly, XP_011535905.1:p.Ser1167Gly, XP_016864714.1:p.Ser1167Gly, XP_016864716.1:p.Ser1167Gly, XP_047272890.1:p.Ser1167Gly

Select item 14899029776.

rs1489902977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:151545329 (GRCh38)
5:150924890 (GRCh37)
Canonical SPDI:: NC_000005.10:151545328:A:G,NC_000005.10:151545328:A:T
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.151545329A>G, NC_000005.10:g.151545329A>T, NC_000005.9:g.150924890A>G, NC_000005.9:g.150924890A>T, NG_046979.1:g.111812T>C, NG_046979.1:g.111812T>A, NM_001447.3:c.5798T>C, NM_001447.3:c.5798T>A, NM_001447.2:c.5798T>C, NM_001447.2:c.5798T>A, XM_011537600.3:c.5798T>C, XM_011537600.3:c.5798T>A, XM_011537600.2:c.5798T>C, XM_011537600.2:c.5798T>A, XM_011537600.1:c.5798T>C, XM_011537600.1:c.5798T>A, XM_017009224.2:c.5798T>C, XM_017009224.2:c.5798T>A, XM_017009224.1:c.5798T>C, XM_017009224.1:c.5798T>A, XM_011537603.2:c.5798T>C, XM_011537603.2:c.5798T>A, XM_011537603.1:c.5798T>C, XM_011537603.1:c.5798T>A, XM_017009225.2:c.5798T>C, XM_017009225.2:c.5798T>A, XM_017009225.1:c.5798T>C, XM_017009225.1:c.5798T>A, XM_017009227.2:c.5798T>C, XM_017009227.2:c.5798T>A, XM_017009227.1:c.5798T>C, XM_017009227.1:c.5798T>A, XM_047416934.1:c.5798T>C, XM_047416934.1:c.5798T>A, XR_007058588.1:n.5985T>C, XR_007058588.1:n.5985T>A, NP_001438.1:p.Leu1933Pro, NP_001438.1:p.Leu1933Gln, XP_011535902.1:p.Leu1933Pro, XP_011535902.1:p.Leu1933Gln, XP_016864713.1:p.Leu1933Pro, XP_016864713.1:p.Leu1933Gln, XP_011535905.1:p.Leu1933Pro, XP_011535905.1:p.Leu1933Gln, XP_016864714.1:p.Leu1933Pro, XP_016864714.1:p.Leu1933Gln, XP_016864716.1:p.Leu1933Pro, XP_016864716.1:p.Leu1933Gln, XP_047272890.1:p.Leu1933Pro, XP_047272890.1:p.Leu1933Gln

Select item 14898770277.

rs1489877027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151505899 (GRCh38)
5:150885460 (GRCh37)
Canonical SPDI:: NC_000005.10:151505898:A:G
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.151505899A>G, NC_000005.9:g.150885460A>G, NG_046979.1:g.151242T>C, NM_001447.3:c.12716T>C, NM_001447.2:c.12716T>C, XM_011537600.3:c.12716T>C, XM_011537600.2:c.12716T>C, XM_011537600.1:c.12716T>C, XM_017009224.2:c.12716T>C, XM_017009224.1:c.12716T>C, XM_011537603.2:c.12716T>C, XM_011537603.1:c.12716T>C, XM_017009225.2:c.12716T>C, XM_017009225.1:c.12716T>C, NP_001438.1:p.Leu4239Pro, XP_011535902.1:p.Leu4239Pro, XP_016864713.1:p.Leu4239Pro, XP_011535905.1:p.Leu4239Pro, XP_016864714.1:p.Leu4239Pro

Select item 14898049188.

rs1489804918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:151566834 (GRCh38)
5:150946395 (GRCh37)
Canonical SPDI:: NC_000005.10:151566833:T:C
Gene:: FAT2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.151566834T>C, NC_000005.9:g.150946395T>C, NG_046979.1:g.90307A>G, NM_001447.3:c.2098A>G, NM_001447.2:c.2098A>G, XM_011537600.3:c.2098A>G, XM_011537600.2:c.2098A>G, XM_011537600.1:c.2098A>G, XM_017009224.2:c.2098A>G, XM_017009224.1:c.2098A>G, XM_011537603.2:c.2098A>G, XM_011537603.1:c.2098A>G, XM_017009225.2:c.2098A>G, XM_017009225.1:c.2098A>G, XM_017009227.2:c.2098A>G, XM_017009227.1:c.2098A>G, XM_047416934.1:c.2098A>G, XR_007058588.1:n.2285A>G, NP_001438.1:p.Thr700Ala, XP_011535902.1:p.Thr700Ala, XP_016864713.1:p.Thr700Ala, XP_011535905.1:p.Thr700Ala, XP_016864714.1:p.Thr700Ala, XP_016864716.1:p.Thr700Ala, XP_047272890.1:p.Thr700Ala

Select item 14898013099.

rs1489801309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:151517709 (GRCh38)
5:150897270 (GRCh37)
Canonical SPDI:: NC_000005.10:151517708:G:A
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151517709G>A, NC_000005.9:g.150897270G>A, NG_046979.1:g.139432C>T, NM_001447.3:c.11374C>T, NM_001447.2:c.11374C>T, XM_011537600.3:c.11374C>T, XM_011537600.2:c.11374C>T, XM_011537600.1:c.11374C>T, XM_017009224.2:c.11374C>T, XM_017009224.1:c.11374C>T, XM_011537603.2:c.11374C>T, XM_011537603.1:c.11374C>T, XM_017009225.2:c.11374C>T, XM_017009225.1:c.11374C>T, XM_047416934.1:c.11374C>T, NP_001438.1:p.Arg3792Trp, XP_011535902.1:p.Arg3792Trp, XP_016864713.1:p.Arg3792Trp, XP_011535905.1:p.Arg3792Trp, XP_016864714.1:p.Arg3792Trp, XP_047272890.1:p.Arg3792Trp

Select item 148979502010.

rs1489795020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:151566447 (GRCh38)
5:150946008 (GRCh37)
Canonical SPDI:: NC_000005.10:151566446:T:C,NC_000005.10:151566446:T:G
Gene:: FAT2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151566447T>C, NC_000005.10:g.151566447T>G, NC_000005.9:g.150946008T>C, NC_000005.9:g.150946008T>G, NG_046979.1:g.90694A>G, NG_046979.1:g.90694A>C, NM_001447.3:c.2485A>G, NM_001447.3:c.2485A>C, NM_001447.2:c.2485A>G, NM_001447.2:c.2485A>C, XM_011537600.3:c.2485A>G, XM_011537600.3:c.2485A>C, XM_011537600.2:c.2485A>G, XM_011537600.2:c.2485A>C, XM_011537600.1:c.2485A>G, XM_011537600.1:c.2485A>C, XM_017009224.2:c.2485A>G, XM_017009224.2:c.2485A>C, XM_017009224.1:c.2485A>G, XM_017009224.1:c.2485A>C, XM_011537603.2:c.2485A>G, XM_011537603.2:c.2485A>C, XM_011537603.1:c.2485A>G, XM_011537603.1:c.2485A>C, XM_017009225.2:c.2485A>G, XM_017009225.2:c.2485A>C, XM_017009225.1:c.2485A>G, XM_017009225.1:c.2485A>C, XM_017009227.2:c.2485A>G, XM_017009227.2:c.2485A>C, XM_017009227.1:c.2485A>G, XM_017009227.1:c.2485A>C, XM_047416934.1:c.2485A>G, XM_047416934.1:c.2485A>C, XR_007058588.1:n.2672A>G, XR_007058588.1:n.2672A>C, NP_001438.1:p.Ile829Val, NP_001438.1:p.Ile829Leu, XP_011535902.1:p.Ile829Val, XP_011535902.1:p.Ile829Leu, XP_016864713.1:p.Ile829Val, XP_016864713.1:p.Ile829Leu, XP_011535905.1:p.Ile829Val, XP_011535905.1:p.Ile829Leu, XP_016864714.1:p.Ile829Val, XP_016864714.1:p.Ile829Leu, XP_016864716.1:p.Ile829Val, XP_016864716.1:p.Ile829Leu, XP_047272890.1:p.Ile829Val, XP_047272890.1:p.Ile829Leu

Select item 148958424611.

rs1489584246 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 5:151550828 (GRCh38)
5:150930389 (GRCh37)
Canonical SPDI:: NC_000005.10:151550827:TG:
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151550828_151550829del, NC_000005.9:g.150930389_150930390del, NG_046979.1:g.106312_106313del, NM_001447.3:c.4339_4340del, NM_001447.2:c.4339_4340del, XM_011537600.3:c.4339_4340del, XM_011537600.2:c.4339_4340del, XM_011537600.1:c.4339_4340del, XM_017009224.2:c.4339_4340del, XM_017009224.1:c.4339_4340del, XM_011537603.2:c.4339_4340del, XM_011537603.1:c.4339_4340del, XM_017009225.2:c.4339_4340del, XM_017009225.1:c.4339_4340del, XM_017009227.2:c.4339_4340del, XM_017009227.1:c.4339_4340del, XM_047416934.1:c.4339_4340del, XR_007058588.1:n.4526_4527del, NP_001438.1:p.Gln1447fs, XP_011535902.1:p.Gln1447fs, XP_016864713.1:p.Gln1447fs, XP_011535905.1:p.Gln1447fs, XP_016864714.1:p.Gln1447fs, XP_016864716.1:p.Gln1447fs, XP_047272890.1:p.Gln1447fs

Select item 148947342712.

rs1489473427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:151531738 (GRCh38)
5:150911299 (GRCh37)
Canonical SPDI:: NC_000005.10:151531737:G:A,NC_000005.10:151531737:G:C,NC_000005.10:151531737:G:T
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.151531738G>A, NC_000005.10:g.151531738G>C, NC_000005.10:g.151531738G>T, NC_000005.9:g.150911299G>A, NC_000005.9:g.150911299G>C, NC_000005.9:g.150911299G>T, NG_046979.1:g.125403C>T, NG_046979.1:g.125403C>G, NG_046979.1:g.125403C>A, NM_001447.3:c.9660C>T, NM_001447.3:c.9660C>G, NM_001447.3:c.9660C>A, NM_001447.2:c.9660C>T, NM_001447.2:c.9660C>G, NM_001447.2:c.9660C>A, XM_011537600.3:c.9660C>T, XM_011537600.3:c.9660C>G, XM_011537600.3:c.9660C>A, XM_011537600.2:c.9660C>T, XM_011537600.2:c.9660C>G, XM_011537600.2:c.9660C>A, XM_011537600.1:c.9660C>T, XM_011537600.1:c.9660C>G, XM_011537600.1:c.9660C>A, XM_017009224.2:c.9660C>T, XM_017009224.2:c.9660C>G, XM_017009224.2:c.9660C>A, XM_017009224.1:c.9660C>T, XM_017009224.1:c.9660C>G, XM_017009224.1:c.9660C>A, XM_011537603.2:c.9660C>T, XM_011537603.2:c.9660C>G, XM_011537603.2:c.9660C>A, XM_011537603.1:c.9660C>T, XM_011537603.1:c.9660C>G, XM_011537603.1:c.9660C>A, XM_017009225.2:c.9660C>T, XM_017009225.2:c.9660C>G, XM_017009225.2:c.9660C>A, XM_017009225.1:c.9660C>T, XM_017009225.1:c.9660C>G, XM_017009225.1:c.9660C>A, XM_047416934.1:c.9660C>T, XM_047416934.1:c.9660C>G, XM_047416934.1:c.9660C>A, NP_001438.1:p.Asn3220Lys, NP_001438.1:p.Asn3220Lys, XP_011535902.1:p.Asn3220Lys, XP_011535902.1:p.Asn3220Lys, XP_016864713.1:p.Asn3220Lys, XP_016864713.1:p.Asn3220Lys, XP_011535905.1:p.Asn3220Lys, XP_011535905.1:p.Asn3220Lys, XP_016864714.1:p.Asn3220Lys, XP_016864714.1:p.Asn3220Lys, XP_047272890.1:p.Asn3220Lys, XP_047272890.1:p.Asn3220Lys

Select item 148904407213.

rs1489044072 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:151546008 (GRCh38)
5:150925569 (GRCh37)
Canonical SPDI:: NC_000005.10:151546007:A:G,NC_000005.10:151546007:A:T
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.151546008A>G, NC_000005.10:g.151546008A>T, NC_000005.9:g.150925569A>G, NC_000005.9:g.150925569A>T, NG_046979.1:g.111133T>C, NG_046979.1:g.111133T>A, NM_001447.3:c.5119T>C, NM_001447.3:c.5119T>A, NM_001447.2:c.5119T>C, NM_001447.2:c.5119T>A, XM_011537600.3:c.5119T>C, XM_011537600.3:c.5119T>A, XM_011537600.2:c.5119T>C, XM_011537600.2:c.5119T>A, XM_011537600.1:c.5119T>C, XM_011537600.1:c.5119T>A, XM_017009224.2:c.5119T>C, XM_017009224.2:c.5119T>A, XM_017009224.1:c.5119T>C, XM_017009224.1:c.5119T>A, XM_011537603.2:c.5119T>C, XM_011537603.2:c.5119T>A, XM_011537603.1:c.5119T>C, XM_011537603.1:c.5119T>A, XM_017009225.2:c.5119T>C, XM_017009225.2:c.5119T>A, XM_017009225.1:c.5119T>C, XM_017009225.1:c.5119T>A, XM_017009227.2:c.5119T>C, XM_017009227.2:c.5119T>A, XM_017009227.1:c.5119T>C, XM_017009227.1:c.5119T>A, XM_047416934.1:c.5119T>C, XM_047416934.1:c.5119T>A, XR_007058588.1:n.5306T>C, XR_007058588.1:n.5306T>A, NP_001438.1:p.Ser1707Pro, NP_001438.1:p.Ser1707Thr, XP_011535902.1:p.Ser1707Pro, XP_011535902.1:p.Ser1707Thr, XP_016864713.1:p.Ser1707Pro, XP_016864713.1:p.Ser1707Thr, XP_011535905.1:p.Ser1707Pro, XP_011535905.1:p.Ser1707Thr, XP_016864714.1:p.Ser1707Pro, XP_016864714.1:p.Ser1707Thr, XP_016864716.1:p.Ser1707Pro, XP_016864716.1:p.Ser1707Thr, XP_047272890.1:p.Ser1707Pro, XP_047272890.1:p.Ser1707Thr

Select item 148876759114.

rs1488767591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151543287 (GRCh38)
5:150922848 (GRCh37)
Canonical SPDI:: NC_000005.10:151543286:C:T
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151543287C>T, NC_000005.9:g.150922848C>T, NG_046979.1:g.113854G>A, NM_001447.3:c.7840G>A, NM_001447.2:c.7840G>A, XM_011537600.3:c.7840G>A, XM_011537600.2:c.7840G>A, XM_011537600.1:c.7840G>A, XM_017009224.2:c.7840G>A, XM_017009224.1:c.7840G>A, XM_011537603.2:c.7840G>A, XM_011537603.1:c.7840G>A, XM_017009225.2:c.7840G>A, XM_017009225.1:c.7840G>A, XM_017009227.2:c.7840G>A, XM_017009227.1:c.7840G>A, XM_047416934.1:c.7840G>A, XR_007058588.1:n.8027G>A, NP_001438.1:p.Glu2614Lys, XP_011535902.1:p.Glu2614Lys, XP_016864713.1:p.Glu2614Lys, XP_011535905.1:p.Glu2614Lys, XP_016864714.1:p.Glu2614Lys, XP_016864716.1:p.Glu2614Lys, XP_047272890.1:p.Glu2614Lys

Select item 148860960815.

rs1488609608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:151568123 (GRCh38)
5:150947684 (GRCh37)
Canonical SPDI:: NC_000005.10:151568122:G:A
Gene:: FAT2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.151568123G>A, NC_000005.9:g.150947684G>A, NG_046979.1:g.89018C>T, NM_001447.3:c.809C>T, NM_001447.2:c.809C>T, XM_011537600.3:c.809C>T, XM_011537600.2:c.809C>T, XM_011537600.1:c.809C>T, XM_017009224.2:c.809C>T, XM_017009224.1:c.809C>T, XM_011537603.2:c.809C>T, XM_011537603.1:c.809C>T, XM_017009225.2:c.809C>T, XM_017009225.1:c.809C>T, XM_017009227.2:c.809C>T, XM_017009227.1:c.809C>T, XM_047416934.1:c.809C>T, XR_007058588.1:n.996C>T, NP_001438.1:p.Thr270Ile, XP_011535902.1:p.Thr270Ile, XP_016864713.1:p.Thr270Ile, XP_011535905.1:p.Thr270Ile, XP_016864714.1:p.Thr270Ile, XP_016864716.1:p.Thr270Ile, XP_047272890.1:p.Thr270Ile

Select item 148844122316.

rs1488441223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:151568919 (GRCh38)
5:150948480 (GRCh37)
Canonical SPDI:: NC_000005.10:151568918:G:A,NC_000005.10:151568918:G:C
Gene:: FAT2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.151568919G>A, NC_000005.10:g.151568919G>C, NC_000005.9:g.150948480G>A, NC_000005.9:g.150948480G>C, NG_046979.1:g.88222C>T, NG_046979.1:g.88222C>G, NM_001447.3:c.13C>T, NM_001447.3:c.13C>G, NM_001447.2:c.13C>T, NM_001447.2:c.13C>G, XM_011537600.3:c.13C>T, XM_011537600.3:c.13C>G, XM_011537600.2:c.13C>T, XM_011537600.2:c.13C>G, XM_011537600.1:c.13C>T, XM_011537600.1:c.13C>G, XM_017009224.2:c.13C>T, XM_017009224.2:c.13C>G, XM_017009224.1:c.13C>T, XM_017009224.1:c.13C>G, XM_011537603.2:c.13C>T, XM_011537603.2:c.13C>G, XM_011537603.1:c.13C>T, XM_011537603.1:c.13C>G, XM_017009225.2:c.13C>T, XM_017009225.2:c.13C>G, XM_017009225.1:c.13C>T, XM_017009225.1:c.13C>G, XM_017009227.2:c.13C>T, XM_017009227.2:c.13C>G, XM_017009227.1:c.13C>T, XM_017009227.1:c.13C>G, XM_047416934.1:c.13C>T, XM_047416934.1:c.13C>G, XR_007058588.1:n.200C>T, XR_007058588.1:n.200C>G, NP_001438.1:p.Leu5Val, XP_011535902.1:p.Leu5Val, XP_016864713.1:p.Leu5Val, XP_011535905.1:p.Leu5Val, XP_016864714.1:p.Leu5Val, XP_016864716.1:p.Leu5Val, XP_047272890.1:p.Leu5Val

Select item 148839635317.

rs1488396353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151544976 (GRCh38)
5:150924537 (GRCh37)
Canonical SPDI:: NC_000005.10:151544975:C:T
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151544976C>T, NC_000005.9:g.150924537C>T, NG_046979.1:g.112165G>A, NM_001447.3:c.6151G>A, NM_001447.2:c.6151G>A, XM_011537600.3:c.6151G>A, XM_011537600.2:c.6151G>A, XM_011537600.1:c.6151G>A, XM_017009224.2:c.6151G>A, XM_017009224.1:c.6151G>A, XM_011537603.2:c.6151G>A, XM_011537603.1:c.6151G>A, XM_017009225.2:c.6151G>A, XM_017009225.1:c.6151G>A, XM_017009227.2:c.6151G>A, XM_017009227.1:c.6151G>A, XM_047416934.1:c.6151G>A, XR_007058588.1:n.6338G>A, NP_001438.1:p.Val2051Met, XP_011535902.1:p.Val2051Met, XP_016864713.1:p.Val2051Met, XP_011535905.1:p.Val2051Met, XP_016864714.1:p.Val2051Met, XP_016864716.1:p.Val2051Met, XP_047272890.1:p.Val2051Met

Select item 148836241518.

rs1488362415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:151566557 (GRCh38)
5:150946118 (GRCh37)
Canonical SPDI:: NC_000005.10:151566556:A:G,NC_000005.10:151566556:A:T
Gene:: FAT2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151566557A>G, NC_000005.10:g.151566557A>T, NC_000005.9:g.150946118A>G, NC_000005.9:g.150946118A>T, NG_046979.1:g.90584T>C, NG_046979.1:g.90584T>A, NM_001447.3:c.2375T>C, NM_001447.3:c.2375T>A, NM_001447.2:c.2375T>C, NM_001447.2:c.2375T>A, XM_011537600.3:c.2375T>C, XM_011537600.3:c.2375T>A, XM_011537600.2:c.2375T>C, XM_011537600.2:c.2375T>A, XM_011537600.1:c.2375T>C, XM_011537600.1:c.2375T>A, XM_017009224.2:c.2375T>C, XM_017009224.2:c.2375T>A, XM_017009224.1:c.2375T>C, XM_017009224.1:c.2375T>A, XM_011537603.2:c.2375T>C, XM_011537603.2:c.2375T>A, XM_011537603.1:c.2375T>C, XM_011537603.1:c.2375T>A, XM_017009225.2:c.2375T>C, XM_017009225.2:c.2375T>A, XM_017009225.1:c.2375T>C, XM_017009225.1:c.2375T>A, XM_017009227.2:c.2375T>C, XM_017009227.2:c.2375T>A, XM_017009227.1:c.2375T>C, XM_017009227.1:c.2375T>A, XM_047416934.1:c.2375T>C, XM_047416934.1:c.2375T>A, XR_007058588.1:n.2562T>C, XR_007058588.1:n.2562T>A, NP_001438.1:p.Val792Ala, NP_001438.1:p.Val792Glu, XP_011535902.1:p.Val792Ala, XP_011535902.1:p.Val792Glu, XP_016864713.1:p.Val792Ala, XP_016864713.1:p.Val792Glu, XP_011535905.1:p.Val792Ala, XP_011535905.1:p.Val792Glu, XP_016864714.1:p.Val792Ala, XP_016864714.1:p.Val792Glu, XP_016864716.1:p.Val792Ala, XP_016864716.1:p.Val792Glu, XP_047272890.1:p.Val792Ala, XP_047272890.1:p.Val792Glu

Select item 148823830319.

rs1488238303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151546046 (GRCh38)
5:150925607 (GRCh37)
Canonical SPDI:: NC_000005.10:151546045:A:G
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.151546046A>G, NC_000005.9:g.150925607A>G, NG_046979.1:g.111095T>C, NM_001447.3:c.5081T>C, NM_001447.2:c.5081T>C, XM_011537600.3:c.5081T>C, XM_011537600.2:c.5081T>C, XM_011537600.1:c.5081T>C, XM_017009224.2:c.5081T>C, XM_017009224.1:c.5081T>C, XM_011537603.2:c.5081T>C, XM_011537603.1:c.5081T>C, XM_017009225.2:c.5081T>C, XM_017009225.1:c.5081T>C, XM_017009227.2:c.5081T>C, XM_017009227.1:c.5081T>C, XM_047416934.1:c.5081T>C, XR_007058588.1:n.5268T>C, NP_001438.1:p.Leu1694Ser, XP_011535902.1:p.Leu1694Ser, XP_016864713.1:p.Leu1694Ser, XP_011535905.1:p.Leu1694Ser, XP_016864714.1:p.Leu1694Ser, XP_016864716.1:p.Leu1694Ser, XP_047272890.1:p.Leu1694Ser

Select item 148804769420.

rs1488047694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:151545998 (GRCh38)
5:150925559 (GRCh37)
Canonical SPDI:: NC_000005.10:151545997:C:A,NC_000005.10:151545997:C:T
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.151545998C>A, NC_000005.10:g.151545998C>T, NC_000005.9:g.150925559C>A, NC_000005.9:g.150925559C>T, NG_046979.1:g.111143G>T, NG_046979.1:g.111143G>A, NM_001447.3:c.5129G>T, NM_001447.3:c.5129G>A, NM_001447.2:c.5129G>T, NM_001447.2:c.5129G>A, XM_011537600.3:c.5129G>T, XM_011537600.3:c.5129G>A, XM_011537600.2:c.5129G>T, XM_011537600.2:c.5129G>A, XM_011537600.1:c.5129G>T, XM_011537600.1:c.5129G>A, XM_017009224.2:c.5129G>T, XM_017009224.2:c.5129G>A, XM_017009224.1:c.5129G>T, XM_017009224.1:c.5129G>A, XM_011537603.2:c.5129G>T, XM_011537603.2:c.5129G>A, XM_011537603.1:c.5129G>T, XM_011537603.1:c.5129G>A, XM_017009225.2:c.5129G>T, XM_017009225.2:c.5129G>A, XM_017009225.1:c.5129G>T, XM_017009225.1:c.5129G>A, XM_017009227.2:c.5129G>T, XM_017009227.2:c.5129G>A, XM_017009227.1:c.5129G>T, XM_017009227.1:c.5129G>A, XM_047416934.1:c.5129G>T, XM_047416934.1:c.5129G>A, XR_007058588.1:n.5316G>T, XR_007058588.1:n.5316G>A, NP_001438.1:p.Gly1710Val, NP_001438.1:p.Gly1710Asp, XP_011535902.1:p.Gly1710Val, XP_011535902.1:p.Gly1710Asp, XP_016864713.1:p.Gly1710Val, XP_016864713.1:p.Gly1710Asp, XP_011535905.1:p.Gly1710Val, XP_011535905.1:p.Gly1710Asp, XP_016864714.1:p.Gly1710Val, XP_016864714.1:p.Gly1710Asp, XP_016864716.1:p.Gly1710Val, XP_016864716.1:p.Gly1710Asp, XP_047272890.1:p.Gly1710Val, XP_047272890.1:p.Gly1710Asp

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dbSNP

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