SNP Links for Protein (Select 431822385) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 269

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Select item 14881387481.

rs1488138748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:36818909 (GRCh38)
18:34398872 (GRCh37)
Canonical SPDI:: NC_000018.10:36818908:A:G
Gene:: TPGS2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.36818909A>G, NC_000018.9:g.34398872A>G, XM_005258242.5:c.150T>C, XM_005258242.4:c.150T>C, XM_005258242.3:c.150T>C, XM_005258242.2:c.150T>C, XM_005258242.1:c.150T>C, NM_015476.4:c.150T>C, NM_015476.3:c.150T>C, XM_011525917.4:c.6T>C, XM_011525917.3:c.6T>C, XM_011525917.2:c.6T>C, XM_011525917.1:c.6T>C, XM_017025701.3:c.150T>C, XM_017025701.2:c.150T>C, XM_017025701.1:c.150T>C, XM_017025702.3:c.150T>C, XM_017025702.2:c.150T>C, XM_017025702.1:c.150T>C, NM_001271949.2:c.150T>C, NM_001271949.1:c.150T>C, NM_001271950.2:c.150T>C, NM_001271950.1:c.150T>C, NM_001330572.2:c.150T>C, NM_001330572.1:c.150T>C, NM_001271951.2:c.150T>C, NM_001271951.1:c.150T>C, NM_001271952.2:c.6T>C, NM_001271952.1:c.6T>C, NM_001271954.2:c.150T>C, NM_001271954.1:c.150T>C, NM_001271953.2:c.150T>C, NM_001271953.1:c.150T>C, NM_001271955.2:c.150T>C, NM_001271955.1:c.150T>C, NM_001271956.2:c.150T>C, NM_001271956.1:c.150T>C, XR_007066142.1:n.385T>C, XR_007066143.1:n.385T>C

Select item 14859301412.

rs1485930141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 18:36796916 (GRCh38)
18:34376879 (GRCh37)
Canonical SPDI:: NC_000018.10:36796915:T:A,NC_000018.10:36796915:T:C
Gene:: TPGS2 (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000418/7 (TOMMO)
HGVS:: NC_000018.10:g.36796916T>A, NC_000018.10:g.36796916T>C, NC_000018.9:g.34376879T>A, NC_000018.9:g.34376879T>C, NM_015476.4:c.792A>T, NM_015476.4:c.792A>G, NM_015476.3:c.792A>T, NM_015476.3:c.792A>G, NM_001271949.2:c.687A>T, NM_001271949.2:c.687A>G, NM_001271949.1:c.687A>T, NM_001271949.1:c.687A>G, NM_001271950.2:c.663A>T, NM_001271950.2:c.663A>G, NM_001271950.1:c.663A>T, NM_001271950.1:c.663A>G, NP_056291.2:p.Lys264Asn, NP_001258878.1:p.Lys229Asn, NP_001258879.1:p.Lys221Asn

Select item 14855507213.

rs1485550721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:36798471 (GRCh38)
18:34378434 (GRCh37)
Canonical SPDI:: NC_000018.10:36798470:T:C
Gene:: TPGS2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.36798471T>C, NC_000018.9:g.34378434T>C, XM_005258242.5:c.506A>G, XM_005258242.4:c.506A>G, XM_005258242.3:c.506A>G, XM_005258242.2:c.506A>G, XM_005258242.1:c.506A>G, NM_015476.4:c.635A>G, NM_015476.3:c.635A>G, XM_011525917.4:c.491A>G, XM_011525917.3:c.491A>G, XM_011525917.2:c.491A>G, XM_011525917.1:c.491A>G, XM_017025701.3:c.635A>G, XM_017025701.2:c.635A>G, XM_017025701.1:c.635A>G, XM_017025702.3:c.506A>G, XM_017025702.2:c.506A>G, XM_017025702.1:c.506A>G, NM_001271949.2:c.530A>G, NM_001271949.1:c.530A>G, NM_001271950.2:c.506A>G, NM_001271950.1:c.506A>G, NM_001330572.2:c.635A>G, NM_001330572.1:c.635A>G, NM_001271951.2:c.635A>G, NM_001271951.1:c.635A>G, NM_001271952.2:c.491A>G, NM_001271952.1:c.491A>G, NM_001271954.2:c.635A>G, NM_001271954.1:c.635A>G, NM_001271953.2:c.635A>G, NM_001271953.1:c.635A>G, NM_001271956.2:c.635A>G, NM_001271956.1:c.635A>G, XR_007066142.1:n.870A>G, XR_007066143.1:n.741A>G, XP_005258299.1:p.Tyr169Cys, NP_056291.2:p.Tyr212Cys, XP_011524219.1:p.Tyr164Cys, XP_016881190.1:p.Tyr212Cys, XP_016881191.1:p.Tyr169Cys, NP_001258878.1:p.Tyr177Cys, NP_001258879.1:p.Tyr169Cys, NP_001317501.1:p.Tyr212Cys, NP_001258880.1:p.Tyr212Cys, NP_001258881.1:p.Tyr164Cys, NP_001258883.1:p.Tyr212Cys, NP_001258882.1:p.Tyr212Cys, NP_001258885.1:p.Tyr212Cys

Select item 14850967684.

rs1485096768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:36798561 (GRCh38)
18:34378524 (GRCh37)
Canonical SPDI:: NC_000018.10:36798560:C:A
Gene:: TPGS2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.36798561C>A, NC_000018.9:g.34378524C>A, XM_005258242.5:c.416G>T, XM_005258242.4:c.416G>T, XM_005258242.3:c.416G>T, XM_005258242.2:c.416G>T, XM_005258242.1:c.416G>T, NM_015476.4:c.545G>T, NM_015476.3:c.545G>T, XM_011525917.4:c.401G>T, XM_011525917.3:c.401G>T, XM_011525917.2:c.401G>T, XM_011525917.1:c.401G>T, XM_017025701.3:c.545G>T, XM_017025701.2:c.545G>T, XM_017025701.1:c.545G>T, XM_017025702.3:c.416G>T, XM_017025702.2:c.416G>T, XM_017025702.1:c.416G>T, NM_001271949.2:c.440G>T, NM_001271949.1:c.440G>T, NM_001271950.2:c.416G>T, NM_001271950.1:c.416G>T, NM_001330572.2:c.545G>T, NM_001330572.1:c.545G>T, NM_001271951.2:c.545G>T, NM_001271951.1:c.545G>T, NM_001271952.2:c.401G>T, NM_001271952.1:c.401G>T, NM_001271954.2:c.545G>T, NM_001271954.1:c.545G>T, NM_001271953.2:c.545G>T, NM_001271953.1:c.545G>T, NM_001271956.2:c.545G>T, NM_001271956.1:c.545G>T, XR_007066142.1:n.780G>T, XR_007066143.1:n.651G>T, XP_005258299.1:p.Trp139Leu, NP_056291.2:p.Trp182Leu, XP_011524219.1:p.Trp134Leu, XP_016881190.1:p.Trp182Leu, XP_016881191.1:p.Trp139Leu, NP_001258878.1:p.Trp147Leu, NP_001258879.1:p.Trp139Leu, NP_001317501.1:p.Trp182Leu, NP_001258880.1:p.Trp182Leu, NP_001258881.1:p.Trp134Leu, NP_001258883.1:p.Trp182Leu, NP_001258882.1:p.Trp182Leu, NP_001258885.1:p.Trp182Leu

Select item 14831188395.

rs1483118839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:36807882 (GRCh38)
18:34387845 (GRCh37)
Canonical SPDI:: NC_000018.10:36807881:T:C
Gene:: TPGS2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.36807882T>C, NC_000018.9:g.34387845T>C, XM_005258242.5:c.218A>G, XM_005258242.4:c.218A>G, XM_005258242.3:c.218A>G, XM_005258242.2:c.218A>G, XM_005258242.1:c.218A>G, NM_015476.4:c.218A>G, NM_015476.3:c.218A>G, XM_011525917.4:c.74A>G, XM_011525917.3:c.74A>G, XM_011525917.2:c.74A>G, XM_011525917.1:c.74A>G, XM_017025701.3:c.218A>G, XM_017025701.2:c.218A>G, XM_017025701.1:c.218A>G, XM_017025702.3:c.218A>G, XM_017025702.2:c.218A>G, XM_017025702.1:c.218A>G, NM_001271949.2:c.218A>G, NM_001271949.1:c.218A>G, NM_001271950.2:c.218A>G, NM_001271950.1:c.218A>G, NM_001330572.2:c.218A>G, NM_001330572.1:c.218A>G, NM_001271951.2:c.218A>G, NM_001271951.1:c.218A>G, NM_001271952.2:c.74A>G, NM_001271952.1:c.74A>G, NM_001271954.2:c.218A>G, NM_001271954.1:c.218A>G, NM_001271953.2:c.218A>G, NM_001271953.1:c.218A>G, NM_001271955.2:c.218A>G, NM_001271955.1:c.218A>G, NM_001271956.2:c.218A>G, NM_001271956.1:c.218A>G, XR_007066142.1:n.453A>G, XR_007066143.1:n.453A>G, XP_005258299.1:p.Asn73Ser, NP_056291.2:p.Asn73Ser, XP_011524219.1:p.Asn25Ser, XP_016881190.1:p.Asn73Ser, XP_016881191.1:p.Asn73Ser, NP_001258878.1:p.Asn73Ser, NP_001258879.1:p.Asn73Ser, NP_001317501.1:p.Asn73Ser, NP_001258880.1:p.Asn73Ser, NP_001258881.1:p.Asn25Ser, NP_001258883.1:p.Asn73Ser, NP_001258882.1:p.Asn73Ser, NP_001258884.1:p.Asn73Ser, NP_001258885.1:p.Asn73Ser

Select item 14825541266.

rs1482554126 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 18:36800230 (GRCh38)
18:34380194 (GRCh37)
Canonical SPDI:: NC_000018.10:36800230::G
Gene:: TPGS2 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.36800230_36800231insG, NC_000018.9:g.34380193_34380194insG, XM_005258242.5:c.334_335insC, XM_005258242.4:c.334_335insC, XM_005258242.3:c.334_335insC, XM_005258242.2:c.334_335insC, XM_005258242.1:c.334_335insC, NM_015476.4:c.463_464insC, NM_015476.3:c.463_464insC, XM_011525917.4:c.319_320insC, XM_011525917.3:c.319_320insC, XM_011525917.2:c.319_320insC, XM_011525917.1:c.319_320insC, XM_017025701.3:c.463_464insC, XM_017025701.2:c.463_464insC, XM_017025701.1:c.463_464insC, XM_017025702.3:c.334_335insC, XM_017025702.2:c.334_335insC, XM_017025702.1:c.334_335insC, NM_001271949.2:c.358_359insC, NM_001271949.1:c.358_359insC, NM_001271950.2:c.334_335insC, NM_001271950.1:c.334_335insC, NM_001330572.2:c.463_464insC, NM_001330572.1:c.463_464insC, NM_001271951.2:c.463_464insC, NM_001271951.1:c.463_464insC, NM_001271952.2:c.319_320insC, NM_001271952.1:c.319_320insC, NM_001271954.2:c.463_464insC, NM_001271954.1:c.463_464insC, NM_001271953.2:c.463_464insC, NM_001271953.1:c.463_464insC, NM_001271956.2:c.463_464insC, NM_001271956.1:c.463_464insC, XR_007066142.1:n.698_699insC, XR_007066143.1:n.569_570insC, XP_005258299.1:p.Lys112fs, NP_056291.2:p.Lys155fs, XP_011524219.1:p.Lys107fs, XP_016881190.1:p.Lys155fs, XP_016881191.1:p.Lys112fs, NP_001258878.1:p.Lys120fs, NP_001258879.1:p.Lys112fs, NP_001317501.1:p.Lys155fs, NP_001258880.1:p.Lys155fs, NP_001258881.1:p.Lys107fs, NP_001258883.1:p.Lys155fs, NP_001258882.1:p.Lys155fs, NP_001258885.1:p.Lys155fs

Select item 14788253737.

rs1478825373 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCA [Show Flanks]
Chromosome:: 18:36807916 (GRCh38)
18:34387880 (GRCh37)
Canonical SPDI:: NC_000018.10:36807916:CATCA:CATCATCA
Gene:: TPGS2 (Varview)
Functional Consequence:: inframe_insertion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATCATCA=0.000071/1 (ALFA)
CAT=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.36807919_36807921dup, NC_000018.9:g.34387882_34387884dup, XM_005258242.5:c.181_183dup, XM_005258242.4:c.181_183dup, XM_005258242.3:c.181_183dup, XM_005258242.2:c.181_183dup, XM_005258242.1:c.181_183dup, NM_015476.4:c.181_183dup, NM_015476.3:c.181_183dup, XM_011525917.4:c.37_39dup, XM_011525917.3:c.37_39dup, XM_011525917.2:c.37_39dup, XM_011525917.1:c.37_39dup, XM_017025701.3:c.181_183dup, XM_017025701.2:c.181_183dup, XM_017025701.1:c.181_183dup, XM_017025702.3:c.181_183dup, XM_017025702.2:c.181_183dup, XM_017025702.1:c.181_183dup, NM_001271949.2:c.181_183dup, NM_001271949.1:c.181_183dup, NM_001271950.2:c.181_183dup, NM_001271950.1:c.181_183dup, NM_001330572.2:c.181_183dup, NM_001330572.1:c.181_183dup, NM_001271951.2:c.181_183dup, NM_001271951.1:c.181_183dup, NM_001271952.2:c.37_39dup, NM_001271952.1:c.37_39dup, NM_001271954.2:c.181_183dup, NM_001271954.1:c.181_183dup, NM_001271953.2:c.181_183dup, NM_001271953.1:c.181_183dup, NM_001271955.2:c.181_183dup, NM_001271955.1:c.181_183dup, NM_001271956.2:c.181_183dup, NM_001271956.1:c.181_183dup, XR_007066142.1:n.416_418dup, XR_007066143.1:n.416_418dup, XP_005258299.1:p.Met61dup, NP_056291.2:p.Met61dup, XP_011524219.1:p.Met13dup, XP_016881190.1:p.Met61dup, XP_016881191.1:p.Met61dup, NP_001258878.1:p.Met61dup, NP_001258879.1:p.Met61dup, NP_001317501.1:p.Met61dup, NP_001258880.1:p.Met61dup, NP_001258881.1:p.Met13dup, NP_001258883.1:p.Met61dup, NP_001258882.1:p.Met61dup, NP_001258884.1:p.Met61dup, NP_001258885.1:p.Met61dup

Select item 14754203028.

rs1475420302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:36796866 (GRCh38)
18:34376829 (GRCh37)
Canonical SPDI:: NC_000018.10:36796865:C:A
Gene:: TPGS2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.36796866C>A, NC_000018.9:g.34376829C>A, NM_015476.4:c.842G>T, NM_015476.3:c.842G>T, NM_001271949.2:c.737G>T, NM_001271949.1:c.737G>T, NM_001271950.2:c.713G>T, NM_001271950.1:c.713G>T, NP_056291.2:p.Gly281Val, NP_001258878.1:p.Gly246Val, NP_001258879.1:p.Gly238Val

Select item 14749067369.

rs1474906736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:36796874 (GRCh38)
18:34376837 (GRCh37)
Canonical SPDI:: NC_000018.10:36796873:T:G
Gene:: TPGS2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.006/11 (Korea1K)
HGVS:: NC_000018.10:g.36796874T>G, NC_000018.9:g.34376837T>G, NM_015476.4:c.834A>C, NM_015476.3:c.834A>C, NM_001271949.2:c.729A>C, NM_001271949.1:c.729A>C, NM_001271950.2:c.705A>C, NM_001271950.1:c.705A>C

Select item 146896845910.

rs1468968459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:36800202 (GRCh38)
18:34380165 (GRCh37)
Canonical SPDI:: NC_000018.10:36800201:T:C
Gene:: TPGS2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.36800202T>C, NC_000018.9:g.34380165T>C, XM_005258242.5:c.363A>G, XM_005258242.4:c.363A>G, XM_005258242.3:c.363A>G, XM_005258242.2:c.363A>G, XM_005258242.1:c.363A>G, NM_015476.4:c.492A>G, NM_015476.3:c.492A>G, XM_011525917.4:c.348A>G, XM_011525917.3:c.348A>G, XM_011525917.2:c.348A>G, XM_011525917.1:c.348A>G, XM_017025701.3:c.492A>G, XM_017025701.2:c.492A>G, XM_017025701.1:c.492A>G, XM_017025702.3:c.363A>G, XM_017025702.2:c.363A>G, XM_017025702.1:c.363A>G, NM_001271949.2:c.387A>G, NM_001271949.1:c.387A>G, NM_001271950.2:c.363A>G, NM_001271950.1:c.363A>G, NM_001330572.2:c.492A>G, NM_001330572.1:c.492A>G, NM_001271951.2:c.492A>G, NM_001271951.1:c.492A>G, NM_001271952.2:c.348A>G, NM_001271952.1:c.348A>G, NM_001271954.2:c.492A>G, NM_001271954.1:c.492A>G, NM_001271953.2:c.492A>G, NM_001271953.1:c.492A>G, NM_001271956.2:c.492A>G, NM_001271956.1:c.492A>G, XR_007066142.1:n.727A>G, XR_007066143.1:n.598A>G

Select item 146858064311.

rs1468580643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:36800214 (GRCh38)
18:34380177 (GRCh37)
Canonical SPDI:: NC_000018.10:36800213:G:A
Gene:: TPGS2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.36800214G>A, NC_000018.9:g.34380177G>A, XM_005258242.5:c.351C>T, XM_005258242.4:c.351C>T, XM_005258242.3:c.351C>T, XM_005258242.2:c.351C>T, XM_005258242.1:c.351C>T, NM_015476.4:c.480C>T, NM_015476.3:c.480C>T, XM_011525917.4:c.336C>T, XM_011525917.3:c.336C>T, XM_011525917.2:c.336C>T, XM_011525917.1:c.336C>T, XM_017025701.3:c.480C>T, XM_017025701.2:c.480C>T, XM_017025701.1:c.480C>T, XM_017025702.3:c.351C>T, XM_017025702.2:c.351C>T, XM_017025702.1:c.351C>T, NM_001271949.2:c.375C>T, NM_001271949.1:c.375C>T, NM_001271950.2:c.351C>T, NM_001271950.1:c.351C>T, NM_001330572.2:c.480C>T, NM_001330572.1:c.480C>T, NM_001271951.2:c.480C>T, NM_001271951.1:c.480C>T, NM_001271952.2:c.336C>T, NM_001271952.1:c.336C>T, NM_001271954.2:c.480C>T, NM_001271954.1:c.480C>T, NM_001271953.2:c.480C>T, NM_001271953.1:c.480C>T, NM_001271956.2:c.480C>T, NM_001271956.1:c.480C>T, XR_007066142.1:n.715C>T, XR_007066143.1:n.586C>T

Select item 146530971612.

rs1465309716 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:36807924 (GRCh38)
18:34387887 (GRCh37)
Canonical SPDI:: NC_000018.10:36807919:CACACA:CACA
Gene:: TPGS2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.36807920CA[2], NC_000018.9:g.34387883CA[2], XM_005258242.5:c.179_180del, XM_005258242.4:c.179_180del, XM_005258242.3:c.179_180del, XM_005258242.2:c.179_180del, XM_005258242.1:c.179_180del, NM_015476.4:c.179_180del, NM_015476.3:c.179_180del, XM_011525917.4:c.35_36del, XM_011525917.3:c.35_36del, XM_011525917.2:c.35_36del, XM_011525917.1:c.35_36del, XM_017025701.3:c.179_180del, XM_017025701.2:c.179_180del, XM_017025701.1:c.179_180del, XM_017025702.3:c.179_180del, XM_017025702.2:c.179_180del, XM_017025702.1:c.179_180del, NM_001271949.2:c.179_180del, NM_001271949.1:c.179_180del, NM_001271950.2:c.179_180del, NM_001271950.1:c.179_180del, NM_001330572.2:c.179_180del, NM_001330572.1:c.179_180del, NM_001271951.2:c.179_180del, NM_001271951.1:c.179_180del, NM_001271952.2:c.35_36del, NM_001271952.1:c.35_36del, NM_001271954.2:c.179_180del, NM_001271954.1:c.179_180del, NM_001271953.2:c.179_180del, NM_001271953.1:c.179_180del, NM_001271955.2:c.179_180del, NM_001271955.1:c.179_180del, NM_001271956.2:c.179_180del, NM_001271956.1:c.179_180del, XR_007066142.1:n.410TG[2], XR_007066143.1:n.410TG[2], XP_005258299.1:p.Val60fs, NP_056291.2:p.Val60fs, XP_011524219.1:p.Val12fs, XP_016881190.1:p.Val60fs, XP_016881191.1:p.Val60fs, NP_001258878.1:p.Val60fs, NP_001258879.1:p.Val60fs, NP_001317501.1:p.Val60fs, NP_001258880.1:p.Val60fs, NP_001258881.1:p.Val12fs, NP_001258883.1:p.Val60fs, NP_001258882.1:p.Val60fs, NP_001258884.1:p.Val60fs, NP_001258885.1:p.Val60fs

Select item 145463614213.

rs1454636142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:36797039 (GRCh38)
18:34377002 (GRCh37)
Canonical SPDI:: NC_000018.10:36797038:G:A
Gene:: TPGS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000018.10:g.36797039G>A, NC_000018.9:g.34377002G>A, NM_015476.4:c.669C>T, NM_015476.3:c.669C>T, NM_001271949.2:c.564C>T, NM_001271949.1:c.564C>T, NM_001271950.2:c.540C>T, NM_001271950.1:c.540C>T

Select item 145043512614.

rs1450435126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:36828701 (GRCh38)
18:34408664 (GRCh37)
Canonical SPDI:: NC_000018.10:36828700:C:T
Gene:: TPGS2 (Varview), KIAA1328 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.36828701C>T, NC_000018.9:g.34408664C>T, XM_005258242.5:c.67G>A, XM_005258242.4:c.67G>A, XM_005258242.3:c.67G>A, XM_005258242.2:c.67G>A, XM_005258242.1:c.67G>A, NM_015476.4:c.67G>A, NM_015476.3:c.67G>A, XM_011525917.4:c.-147G>A, XM_011525917.3:c.-147G>A, XM_011525917.2:c.-147G>A, XM_011525917.1:c.-147G>A, XM_017025701.3:c.67G>A, XM_017025701.2:c.67G>A, XM_017025701.1:c.67G>A, XM_017025702.3:c.67G>A, XM_017025702.2:c.67G>A, XM_017025702.1:c.67G>A, NM_001271949.2:c.67G>A, NM_001271949.1:c.67G>A, NM_001271950.2:c.67G>A, NM_001271950.1:c.67G>A, NM_001330572.2:c.67G>A, NM_001330572.1:c.67G>A, NM_001271951.2:c.67G>A, NM_001271951.1:c.67G>A, NM_001271952.2:c.-147G>A, NM_001271952.1:c.-147G>A, NM_001271954.2:c.67G>A, NM_001271954.1:c.67G>A, NM_001271953.2:c.67G>A, NM_001271953.1:c.67G>A, NM_001271955.2:c.67G>A, NM_001271955.1:c.67G>A, NM_001271956.2:c.67G>A, NM_001271956.1:c.67G>A, XR_007066142.1:n.302G>A, XR_007066143.1:n.302G>A, XP_005258299.1:p.Gly23Ser, NP_056291.2:p.Gly23Ser, XP_016881190.1:p.Gly23Ser, XP_016881191.1:p.Gly23Ser, NP_001258878.1:p.Gly23Ser, NP_001258879.1:p.Gly23Ser, NP_001317501.1:p.Gly23Ser, NP_001258880.1:p.Gly23Ser, NP_001258883.1:p.Gly23Ser, NP_001258882.1:p.Gly23Ser, NP_001258884.1:p.Gly23Ser, NP_001258885.1:p.Gly23Ser

Select item 144966259015.

rs1449662590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:36818912 (GRCh38)
18:34398875 (GRCh37)
Canonical SPDI:: NC_000018.10:36818911:C:T
Gene:: TPGS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,initiator_codon_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.36818912C>T, NC_000018.9:g.34398875C>T, XM_005258242.5:c.147G>A, XM_005258242.4:c.147G>A, XM_005258242.3:c.147G>A, XM_005258242.2:c.147G>A, XM_005258242.1:c.147G>A, NM_015476.4:c.147G>A, NM_015476.3:c.147G>A, XM_011525917.4:c.3G>A, XM_011525917.3:c.3G>A, XM_011525917.2:c.3G>A, XM_011525917.1:c.3G>A, XM_017025701.3:c.147G>A, XM_017025701.2:c.147G>A, XM_017025701.1:c.147G>A, XM_017025702.3:c.147G>A, XM_017025702.2:c.147G>A, XM_017025702.1:c.147G>A, NM_001271949.2:c.147G>A, NM_001271949.1:c.147G>A, NM_001271950.2:c.147G>A, NM_001271950.1:c.147G>A, NM_001330572.2:c.147G>A, NM_001330572.1:c.147G>A, NM_001271951.2:c.147G>A, NM_001271951.1:c.147G>A, NM_001271952.2:c.3G>A, NM_001271952.1:c.3G>A, NM_001271954.2:c.147G>A, NM_001271954.1:c.147G>A, NM_001271953.2:c.147G>A, NM_001271953.1:c.147G>A, NM_001271955.2:c.147G>A, NM_001271955.1:c.147G>A, NM_001271956.2:c.147G>A, NM_001271956.1:c.147G>A, XR_007066142.1:n.382G>A, XR_007066143.1:n.382G>A, XP_005258299.1:p.Met49Ile, NP_056291.2:p.Met49Ile, XP_011524219.1:p.Met1Ile, XP_016881190.1:p.Met49Ile, XP_016881191.1:p.Met49Ile, NP_001258878.1:p.Met49Ile, NP_001258879.1:p.Met49Ile, NP_001317501.1:p.Met49Ile, NP_001258880.1:p.Met49Ile, NP_001258881.1:p.Met1Ile, NP_001258883.1:p.Met49Ile, NP_001258882.1:p.Met49Ile, NP_001258884.1:p.Met49Ile, NP_001258885.1:p.Met49Ile

Select item 144828916616.

rs1448289166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:36828753 (GRCh38)
18:34408716 (GRCh37)
Canonical SPDI:: NC_000018.10:36828752:T:C
Gene:: TPGS2 (Varview), KIAA1328 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000018.10:g.36828753T>C, NC_000018.9:g.34408716T>C, XM_005258242.5:c.15A>G, XM_005258242.4:c.15A>G, XM_005258242.3:c.15A>G, XM_005258242.2:c.15A>G, XM_005258242.1:c.15A>G, NM_015476.4:c.15A>G, NM_015476.3:c.15A>G, XM_011525917.4:c.-199A>G, XM_011525917.3:c.-199A>G, XM_011525917.2:c.-199A>G, XM_011525917.1:c.-199A>G, XM_017025701.3:c.15A>G, XM_017025701.2:c.15A>G, XM_017025701.1:c.15A>G, XM_017025702.3:c.15A>G, XM_017025702.2:c.15A>G, XM_017025702.1:c.15A>G, NM_001271949.2:c.15A>G, NM_001271949.1:c.15A>G, NM_001271950.2:c.15A>G, NM_001271950.1:c.15A>G, NM_001330572.2:c.15A>G, NM_001330572.1:c.15A>G, NM_001271951.2:c.15A>G, NM_001271951.1:c.15A>G, NM_001271952.2:c.-199A>G, NM_001271952.1:c.-199A>G, NM_001271954.2:c.15A>G, NM_001271954.1:c.15A>G, NM_001271953.2:c.15A>G, NM_001271953.1:c.15A>G, NM_001271955.2:c.15A>G, NM_001271955.1:c.15A>G, NM_001271956.2:c.15A>G, NM_001271956.1:c.15A>G, XR_007066142.1:n.250A>G, XR_007066143.1:n.250A>G

Select item 144269329917.

rs1442693299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:36828745 (GRCh38)
18:34408708 (GRCh37)
Canonical SPDI:: NC_000018.10:36828744:G:A
Gene:: TPGS2 (Varview), KIAA1328 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000018.10:g.36828745G>A, NC_000018.9:g.34408708G>A, XM_005258242.5:c.23C>T, XM_005258242.4:c.23C>T, XM_005258242.3:c.23C>T, XM_005258242.2:c.23C>T, XM_005258242.1:c.23C>T, NM_015476.4:c.23C>T, NM_015476.3:c.23C>T, XM_011525917.4:c.-191C>T, XM_011525917.3:c.-191C>T, XM_011525917.2:c.-191C>T, XM_011525917.1:c.-191C>T, XM_017025701.3:c.23C>T, XM_017025701.2:c.23C>T, XM_017025701.1:c.23C>T, XM_017025702.3:c.23C>T, XM_017025702.2:c.23C>T, XM_017025702.1:c.23C>T, NM_001271949.2:c.23C>T, NM_001271949.1:c.23C>T, NM_001271950.2:c.23C>T, NM_001271950.1:c.23C>T, NM_001330572.2:c.23C>T, NM_001330572.1:c.23C>T, NM_001271951.2:c.23C>T, NM_001271951.1:c.23C>T, NM_001271952.2:c.-191C>T, NM_001271952.1:c.-191C>T, NM_001271954.2:c.23C>T, NM_001271954.1:c.23C>T, NM_001271953.2:c.23C>T, NM_001271953.1:c.23C>T, NM_001271955.2:c.23C>T, NM_001271955.1:c.23C>T, NM_001271956.2:c.23C>T, NM_001271956.1:c.23C>T, XR_007066142.1:n.258C>T, XR_007066143.1:n.258C>T, XP_005258299.1:p.Pro8Leu, NP_056291.2:p.Pro8Leu, XP_016881190.1:p.Pro8Leu, XP_016881191.1:p.Pro8Leu, NP_001258878.1:p.Pro8Leu, NP_001258879.1:p.Pro8Leu, NP_001317501.1:p.Pro8Leu, NP_001258880.1:p.Pro8Leu, NP_001258883.1:p.Pro8Leu, NP_001258882.1:p.Pro8Leu, NP_001258884.1:p.Pro8Leu, NP_001258885.1:p.Pro8Leu

Select item 144217132618.

rs1442171326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:36800238 (GRCh38)
18:34380201 (GRCh37)
Canonical SPDI:: NC_000018.10:36800237:G:T
Gene:: TPGS2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.36800238G>T, NC_000018.9:g.34380201G>T, XM_005258242.5:c.327C>A, XM_005258242.4:c.327C>A, XM_005258242.3:c.327C>A, XM_005258242.2:c.327C>A, XM_005258242.1:c.327C>A, NM_015476.4:c.456C>A, NM_015476.3:c.456C>A, XM_011525917.4:c.312C>A, XM_011525917.3:c.312C>A, XM_011525917.2:c.312C>A, XM_011525917.1:c.312C>A, XM_017025701.3:c.456C>A, XM_017025701.2:c.456C>A, XM_017025701.1:c.456C>A, XM_017025702.3:c.327C>A, XM_017025702.2:c.327C>A, XM_017025702.1:c.327C>A, NM_001271949.2:c.351C>A, NM_001271949.1:c.351C>A, NM_001271950.2:c.327C>A, NM_001271950.1:c.327C>A, NM_001330572.2:c.456C>A, NM_001330572.1:c.456C>A, NM_001271951.2:c.456C>A, NM_001271951.1:c.456C>A, NM_001271952.2:c.312C>A, NM_001271952.1:c.312C>A, NM_001271954.2:c.456C>A, NM_001271954.1:c.456C>A, NM_001271953.2:c.456C>A, NM_001271953.1:c.456C>A, NM_001271956.2:c.456C>A, NM_001271956.1:c.456C>A, XR_007066142.1:n.691C>A, XR_007066143.1:n.562C>A

Select item 143919845419.

rs1439198454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:36796851 (GRCh38)
18:34376814 (GRCh37)
Canonical SPDI:: NC_000018.10:36796850:G:T
Gene:: TPGS2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.36796851G>T, NC_000018.9:g.34376814G>T, NM_015476.4:c.857C>A, NM_015476.3:c.857C>A, NM_001271949.2:c.752C>A, NM_001271949.1:c.752C>A, NM_001271950.2:c.728C>A, NM_001271950.1:c.728C>A, NP_056291.2:p.Ser286Tyr, NP_001258878.1:p.Ser251Tyr, NP_001258879.1:p.Ser243Tyr

Select item 143789681920.

rs1437896819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:36818947 (GRCh38)
18:34398910 (GRCh37)
Canonical SPDI:: NC_000018.10:36818946:T:C
Gene:: TPGS2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.36818947T>C, NC_000018.9:g.34398910T>C, XM_005258242.5:c.112A>G, XM_005258242.4:c.112A>G, XM_005258242.3:c.112A>G, XM_005258242.2:c.112A>G, XM_005258242.1:c.112A>G, NM_015476.4:c.112A>G, NM_015476.3:c.112A>G, XM_011525917.4:c.-33A>G, XM_011525917.3:c.-33A>G, XM_011525917.2:c.-33A>G, XM_011525917.1:c.-33A>G, XM_017025701.3:c.112A>G, XM_017025701.2:c.112A>G, XM_017025701.1:c.112A>G, XM_017025702.3:c.112A>G, XM_017025702.2:c.112A>G, XM_017025702.1:c.112A>G, NM_001271949.2:c.112A>G, NM_001271949.1:c.112A>G, NM_001271950.2:c.112A>G, NM_001271950.1:c.112A>G, NM_001330572.2:c.112A>G, NM_001330572.1:c.112A>G, NM_001271951.2:c.112A>G, NM_001271951.1:c.112A>G, NM_001271952.2:c.-33A>G, NM_001271952.1:c.-33A>G, NM_001271954.2:c.112A>G, NM_001271954.1:c.112A>G, NM_001271953.2:c.112A>G, NM_001271953.1:c.112A>G, NM_001271955.2:c.112A>G, NM_001271955.1:c.112A>G, NM_001271956.2:c.112A>G, NM_001271956.1:c.112A>G, XR_007066142.1:n.347A>G, XR_007066143.1:n.347A>G, XP_005258299.1:p.Thr38Ala, NP_056291.2:p.Thr38Ala, XP_016881190.1:p.Thr38Ala, XP_016881191.1:p.Thr38Ala, NP_001258878.1:p.Thr38Ala, NP_001258879.1:p.Thr38Ala, NP_001317501.1:p.Thr38Ala, NP_001258880.1:p.Thr38Ala, NP_001258883.1:p.Thr38Ala, NP_001258882.1:p.Thr38Ala, NP_001258884.1:p.Thr38Ala, NP_001258885.1:p.Thr38Ala

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