SNP Links for Protein (Select 194018570) - SNP

Links from Protein

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Select item 14864578301.

rs1486457830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:109660335 (GRCh38)
4:110581491 (GRCh37)
Canonical SPDI:: NC_000004.12:109660334:G:C
Gene:: MCUB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109660335G>C, NC_000004.11:g.110581491G>C, NM_017918.5:c.316G>C, NM_017918.4:c.316G>C, XM_006714246.4:c.229G>C, XM_006714246.3:c.229G>C, XM_006714246.2:c.229G>C, XM_006714246.1:c.229G>C, NP_060388.2:p.Gly106Arg, XP_006714309.1:p.Gly77Arg

Select item 14844239122.

rs1484423912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:109685338 (GRCh38)
4:110606494 (GRCh37)
Canonical SPDI:: NC_000004.12:109685337:T:C
Gene:: CASP6 (Varview), MCUB (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_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_000004.12:g.109685338T>C, NC_000004.11:g.110606494T>C, NM_017918.5:c.904T>C, NM_017918.4:c.904T>C, XM_006714246.4:c.817T>C, XM_006714246.3:c.817T>C, XM_006714246.2:c.817T>C, XM_006714246.1:c.817T>C, NP_060388.2:p.Tyr302His, XP_006714309.1:p.Tyr273His

Select item 14839717433.

rs1483971743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:109560369 (GRCh38)
4:110481525 (GRCh37)
Canonical SPDI:: NC_000004.12:109560368:C:A
Gene:: MCUB (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.109560369C>A, NC_000004.11:g.110481525C>A, NM_017918.5:c.32C>A, NM_017918.4:c.32C>A, XM_006714246.4:c.-637C>A, NP_060388.2:p.Thr11Lys

Select item 14814133484.

rs1481413348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109664348 (GRCh38)
4:110585504 (GRCh37)
Canonical SPDI:: NC_000004.12:109664347:A:G
Gene:: CASP6 (Varview), MCUB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109664348A>G, NC_000004.11:g.110585504A>G, NM_017918.5:c.405A>G, NM_017918.4:c.405A>G, XM_006714246.4:c.318A>G, XM_006714246.3:c.318A>G, XM_006714246.2:c.318A>G, XM_006714246.1:c.318A>G

Select item 14805620305.

rs1480562030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109560357 (GRCh38)
4:110481513 (GRCh37)
Canonical SPDI:: NC_000004.12:109560356:G:A
Gene:: MCUB (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.109560357G>A, NC_000004.11:g.110481513G>A, NM_017918.5:c.20G>A, NM_017918.4:c.20G>A, XM_006714246.4:c.-649G>A, NP_060388.2:p.Trp7Ter

Select item 14789401806.

rs1478940180 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTGATGTGCAGCA>- [Show Flanks]
Chromosome:: 4:109685322 (GRCh38)
4:110606478 (GRCh37)
Canonical SPDI:: NC_000004.12:109685316:CAGCACTTTGATGTGCAGCA:CAGCA
Gene:: CASP6 (Varview), MCUB (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CAGCA=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109685322_109685336del, NC_000004.11:g.110606478_110606492del, NM_017918.5:c.888_902del, NM_017918.4:c.888_902del, XM_006714246.4:c.801_815del, XM_006714246.3:c.801_815del, XM_006714246.2:c.801_815del, XM_006714246.1:c.801_815del, NP_060388.2:p.His296_Gln300del, XP_006714309.1:p.His267_Gln271del

Select item 14773021137.

rs1477302113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109684512 (GRCh38)
4:110605668 (GRCh37)
Canonical SPDI:: NC_000004.12:109684511:C:T
Gene:: CASP6 (Varview), MCUB (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109684512C>T, NC_000004.11:g.110605668C>T, NM_017918.5:c.682C>T, NM_017918.4:c.682C>T, XM_006714246.4:c.595C>T, XM_006714246.3:c.595C>T, XM_006714246.2:c.595C>T, XM_006714246.1:c.595C>T

Select item 14749818318.

rs1474981831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109659028 (GRCh38)
4:110580184 (GRCh37)
Canonical SPDI:: NC_000004.12:109659027:G:A
Gene:: MCUB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000048/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109659028G>A, NC_000004.11:g.110580184G>A, NM_017918.5:c.117G>A, NM_017918.4:c.117G>A, XM_006714246.4:c.30G>A, XM_006714246.3:c.30G>A, XM_006714246.2:c.30G>A, XM_006714246.1:c.30G>A

Select item 14743875289.

rs1474387528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:109560411 (GRCh38)
4:110481567 (GRCh37)
Canonical SPDI:: NC_000004.12:109560410:C:G,NC_000004.12:109560410:C:T
Gene:: MCUB (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109560411C>G, NC_000004.12:g.109560411C>T, NC_000004.11:g.110481567C>G, NC_000004.11:g.110481567C>T, NM_017918.5:c.74C>G, NM_017918.5:c.74C>T, NM_017918.4:c.74C>G, NM_017918.4:c.74C>T, XM_006714246.4:c.-595C>G, XM_006714246.4:c.-595C>T, NP_060388.2:p.Pro25Arg, NP_060388.2:p.Pro25Leu

Select item 147327315310.

rs1473273153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109560419 (GRCh38)
4:110481575 (GRCh37)
Canonical SPDI:: NC_000004.12:109560418:C:T
Gene:: MCUB (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109560419C>T, NC_000004.11:g.110481575C>T, NM_017918.5:c.82C>T, NM_017918.4:c.82C>T, XM_006714246.4:c.-587C>T

Select item 147019021711.

rs1470190217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109684469 (GRCh38)
4:110605625 (GRCh37)
Canonical SPDI:: NC_000004.12:109684468:G:A
Gene:: CASP6 (Varview), MCUB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109684469G>A, NC_000004.11:g.110605625G>A, NM_017918.5:c.639G>A, NM_017918.4:c.639G>A, XM_006714246.4:c.552G>A, XM_006714246.3:c.552G>A, XM_006714246.2:c.552G>A, XM_006714246.1:c.552G>A

Select item 146177926212.

rs1461779262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:109560352 (GRCh38)
4:110481508 (GRCh37)
Canonical SPDI:: NC_000004.12:109560351:C:G,NC_000004.12:109560351:C:T
Gene:: MCUB (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.109560352C>G, NC_000004.12:g.109560352C>T, NC_000004.11:g.110481508C>G, NC_000004.11:g.110481508C>T, NM_017918.5:c.15C>G, NM_017918.5:c.15C>T, NM_017918.4:c.15C>G, NM_017918.4:c.15C>T, XM_006714246.4:c.-654C>G, XM_006714246.4:c.-654C>T

Select item 146110958713.

rs1461109587 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAAGATAAGGGTATCAAAA>- [Show Flanks]
Chromosome:: 4:109660325 (GRCh38)
4:110581481 (GRCh37)
Canonical SPDI:: NC_000004.12:109660319:CAAAATGAAGATAAGGGTATCAAAA:CAAAA
Gene:: MCUB (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.109660325_109660344del, NC_000004.11:g.110581481_110581500del, NM_017918.5:c.306_325del, NM_017918.4:c.306_325del, XM_006714246.4:c.219_238del, XM_006714246.3:c.219_238del, XM_006714246.2:c.219_238del, XM_006714246.1:c.219_238del, NP_060388.2:p.Glu103fs, XP_006714309.1:p.Glu74fs

Select item 145947201514.

rs1459472015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109660299 (GRCh38)
4:110581455 (GRCh37)
Canonical SPDI:: NC_000004.12:109660298:G:A
Gene:: MCUB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109660299G>A, NC_000004.11:g.110581455G>A, NM_017918.5:c.280G>A, NM_017918.4:c.280G>A, XM_006714246.4:c.193G>A, XM_006714246.3:c.193G>A, XM_006714246.2:c.193G>A, XM_006714246.1:c.193G>A, NP_060388.2:p.Gly94Ser, XP_006714309.1:p.Gly65Ser

Select item 145616999415.

rs1456169994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:109682706 (GRCh38)
4:110603862 (GRCh37)
Canonical SPDI:: NC_000004.12:109682705:T:C,NC_000004.12:109682705:T:G
Gene:: CASP6 (Varview), MCUB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109682706T>C, NC_000004.12:g.109682706T>G, NC_000004.11:g.110603862T>C, NC_000004.11:g.110603862T>G, NM_017918.5:c.576T>C, NM_017918.5:c.576T>G, NM_017918.4:c.576T>C, NM_017918.4:c.576T>G, XM_006714246.4:c.489T>C, XM_006714246.4:c.489T>G, XM_006714246.3:c.489T>C, XM_006714246.3:c.489T>G, XM_006714246.2:c.489T>C, XM_006714246.2:c.489T>G, XM_006714246.1:c.489T>C, XM_006714246.1:c.489T>G, NP_060388.2:p.Ile192Met, XP_006714309.1:p.Ile163Met

Select item 145593207616.

rs1455932076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:109660199 (GRCh38)
4:110581355 (GRCh37)
Canonical SPDI:: NC_000004.12:109660198:A:C,NC_000004.12:109660198:A:G
Gene:: MCUB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109660199A>C, NC_000004.12:g.109660199A>G, NC_000004.11:g.110581355A>C, NC_000004.11:g.110581355A>G, NM_017918.5:c.180A>C, NM_017918.5:c.180A>G, NM_017918.4:c.180A>C, NM_017918.4:c.180A>G, XM_006714246.4:c.93A>C, XM_006714246.4:c.93A>G, XM_006714246.3:c.93A>C, XM_006714246.3:c.93A>G, XM_006714246.2:c.93A>C, XM_006714246.2:c.93A>G, XM_006714246.1:c.93A>C, XM_006714246.1:c.93A>G, NP_060388.2:p.Ile60Met, XP_006714309.1:p.Ile31Met

Select item 145551026717.

rs1455510267 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTT,TTTTTT [Show Flanks]
Chromosome:: 4:109685252 (GRCh38)
4:110606409 (GRCh37)
Canonical SPDI:: NC_000004.12:109685252:TT:TTTTTTT,NC_000004.12:109685252:TT:TTTTTTTT
Gene:: CASP6 (Varview), MCUB (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.00022/3 (ALFA)
TTTTTT=0.00089/4 (Estonian)
HGVS:: NC_000004.12:g.109685254_109685255insTTTTT, NC_000004.12:g.109685254_109685255insTTTTTT, NC_000004.11:g.110606410_110606411insTTTTT, NC_000004.11:g.110606410_110606411insTTTTTT, NM_017918.5:c.820_821insTTTTT, NM_017918.5:c.820_821insTTTTTT, NM_017918.4:c.820_821insTTTTT, NM_017918.4:c.820_821insTTTTTT, XM_006714246.4:c.733_734insTTTTT, XM_006714246.4:c.733_734insTTTTTT, XM_006714246.3:c.733_734insTTTTT, XM_006714246.3:c.733_734insTTTTTT, XM_006714246.2:c.733_734insTTTTT, XM_006714246.2:c.733_734insTTTTTT, XM_006714246.1:c.733_734insTTTTT, XM_006714246.1:c.733_734insTTTTTT, NP_060388.2:p.Tyr274fs, NP_060388.2:p.Tyr274_Thr275insPhePhe, XP_006714309.1:p.Tyr245fs, XP_006714309.1:p.Tyr245_Thr246insPhePhe

Select item 145530442318.

rs1455304423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109684586 (GRCh38)
4:110605742 (GRCh37)
Canonical SPDI:: NC_000004.12:109684585:A:G
Gene:: CASP6 (Varview), MCUB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109684586A>G, NC_000004.11:g.110605742A>G, NM_017918.5:c.756A>G, NM_017918.4:c.756A>G, XM_006714246.4:c.669A>G, XM_006714246.3:c.669A>G, XM_006714246.2:c.669A>G, XM_006714246.1:c.669A>G

Select item 145098041919.

rs1450980419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109685367 (GRCh38)
4:110606523 (GRCh37)
Canonical SPDI:: NC_000004.12:109685366:G:A
Gene:: CASP6 (Varview), MCUB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109685367G>A, NC_000004.11:g.110606523G>A, NM_017918.5:c.933G>A, NM_017918.4:c.933G>A, XM_006714246.4:c.846G>A, XM_006714246.3:c.846G>A, XM_006714246.2:c.846G>A, XM_006714246.1:c.846G>A

Select item 144466113420.

rs1444661134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109664386 (GRCh38)
4:110585542 (GRCh37)
Canonical SPDI:: NC_000004.12:109664385:C:T
Gene:: CASP6 (Varview), MCUB (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,missense_variant,downstream_transcript_variant
HGVS:: NC_000004.12:g.109664386C>T, NC_000004.11:g.110585542C>T, NM_017918.5:c.443C>T, NM_017918.4:c.443C>T, XM_006714246.4:c.356C>T, XM_006714246.3:c.356C>T, XM_006714246.2:c.356C>T, XM_006714246.1:c.356C>T, NP_060388.2:p.Pro148Leu, XP_006714309.1:p.Pro119Leu

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