SNP Links for Protein (Select 578806949) - SNP

Select item 14910280141.

rs1491028014 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:160412384 (GRCh38)
3:160130172 (GRCh37)
Canonical SPDI:: NC_000003.12:160412382:ATA:A
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.160412384_160412385del, NC_000003.11:g.160130172_160130173del, NG_050987.1:g.18081_18082del, NM_005496.3:c.911_912del, NM_001002800.3:c.911_912del, NM_001002800.2:c.911_912del, NM_001002800.1:c.911_912del, NM_001288753.2:c.836_837del, NM_001288753.1:c.836_837del, XM_006713459.5:c.911_912del, XM_006713459.4:c.911_912del, XM_006713459.3:c.911_912del, XM_006713459.2:c.911_912del, XM_006713459.1:c.911_912del, XM_011512311.3:c.911_912del, XM_011512311.2:c.911_912del, XM_011512311.1:c.911_912del, XM_011512312.3:c.695_696del, XM_011512312.2:c.695_696del, XM_011512312.1:c.695_696del, NM_001002799.1:c.836_837del, NP_005487.3:p.Ile304fs, NP_001002800.1:p.Ile304fs, NP_001275682.1:p.Ile279fs, XP_006713522.1:p.Ile304fs, XP_011510613.1:p.Ile304fs, XP_011510614.1:p.Ile232fs

Select item 14906552962.

rs1490655296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160424969 (GRCh38)
3:160142757 (GRCh37)
Canonical SPDI:: NC_000003.12:160424968:A:G
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160424969A>G, NC_000003.11:g.160142757A>G, NG_050987.1:g.30666A>G, NM_005496.3:c.2428A>G, NM_001002800.3:c.2428A>G, NM_001002800.2:c.2428A>G, NM_001002800.1:c.2428A>G, NM_001288753.2:c.2353A>G, NM_001288753.1:c.2353A>G, XM_006713459.5:c.2194A>G, XM_006713459.4:c.2194A>G, XM_006713459.3:c.2194A>G, XM_006713459.2:c.2194A>G, XM_006713459.1:c.2194A>G, XM_011512311.3:c.2428A>G, XM_011512311.2:c.2428A>G, XM_011512311.1:c.2428A>G, XM_011512312.3:c.2212A>G, XM_011512312.2:c.2212A>G, XM_011512312.1:c.2212A>G, NM_001002799.1:c.2353A>G, NP_005487.3:p.Ser810Gly, NP_001002800.1:p.Ser810Gly, NP_001275682.1:p.Ser785Gly, XP_006713522.1:p.Ser732Gly, XP_011510613.1:p.Ser810Gly, XP_011510614.1:p.Ser738Gly

Select item 14903263043.

rs1490326304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:160430686 (GRCh38)
3:160148474 (GRCh37)
Canonical SPDI:: NC_000003.12:160430685:G:T
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160430686G>T, NC_000003.11:g.160148474G>T, NG_050987.1:g.36383G>T, NM_005496.3:c.2883G>T, NM_001002800.3:c.2883G>T, NM_001002800.2:c.2883G>T, NM_001002800.1:c.2883G>T, NM_001288753.2:c.2808G>T, NM_001288753.1:c.2808G>T, XM_006713459.5:c.2649G>T, XM_006713459.4:c.2649G>T, XM_006713459.3:c.2649G>T, XM_006713459.2:c.2649G>T, XM_006713459.1:c.2649G>T, XM_011512311.3:c.2883G>T, XM_011512311.2:c.2883G>T, XM_011512311.1:c.2883G>T, XM_011512312.3:c.2667G>T, XM_011512312.2:c.2667G>T, XM_011512312.1:c.2667G>T, NM_001002799.1:c.*28G>T, NP_005487.3:p.Glu961Asp, NP_001002800.1:p.Glu961Asp, NP_001275682.1:p.Glu936Asp, XP_006713522.1:p.Glu883Asp, XP_011510613.1:p.Glu961Asp, XP_011510614.1:p.Glu889Asp

Select item 14900738144.

rs1490073814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:160401916 (GRCh38)
3:160119704 (GRCh37)
Canonical SPDI:: NC_000003.12:160401915:G:A,NC_000003.12:160401915:G:C
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000003.12:g.160401916G>A, NC_000003.12:g.160401916G>C, NC_000003.11:g.160119704G>A, NC_000003.11:g.160119704G>C, NG_022932.2:g.2309C>T, NG_022932.2:g.2309C>G, NG_022932.1:g.2617C>T, NG_022932.1:g.2617C>G, NG_050987.1:g.7613G>A, NG_050987.1:g.7613G>C, NM_005496.3:c.141G>A, NM_005496.3:c.141G>C, NM_001002800.3:c.141G>A, NM_001002800.3:c.141G>C, NM_001002800.2:c.141G>A, NM_001002800.2:c.141G>C, NM_001002800.1:c.141G>A, NM_001002800.1:c.141G>C, XM_006713459.5:c.141G>A, XM_006713459.5:c.141G>C, XM_006713459.4:c.141G>A, XM_006713459.4:c.141G>C, XM_006713459.3:c.141G>A, XM_006713459.3:c.141G>C, XM_006713459.2:c.141G>A, XM_006713459.2:c.141G>C, XM_006713459.1:c.141G>A, XM_006713459.1:c.141G>C, XM_011512311.3:c.141G>A, XM_011512311.3:c.141G>C, XM_011512311.2:c.141G>A, XM_011512311.2:c.141G>C, XM_011512311.1:c.141G>A, XM_011512311.1:c.141G>C, XM_011512312.3:c.-76G>A, XM_011512312.3:c.-76G>C, XM_011512312.2:c.-76G>A, XM_011512312.2:c.-76G>C, XM_011512312.1:c.-76G>A, XM_011512312.1:c.-76G>C, NP_005487.3:p.Glu47Asp, NP_001002800.1:p.Glu47Asp, XP_006713522.1:p.Glu47Asp, XP_011510613.1:p.Glu47Asp

Select item 14889427515.

rs1488942751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:160423840 (GRCh38)
3:160141628 (GRCh37)
Canonical SPDI:: NC_000003.12:160423839:G:A
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.160423840G>A, NC_000003.11:g.160141628G>A, NG_050987.1:g.29537G>A, NM_005496.3:c.2325G>A, NM_001002800.3:c.2325G>A, NM_001002800.2:c.2325G>A, NM_001002800.1:c.2325G>A, NM_001288753.2:c.2250G>A, NM_001288753.1:c.2250G>A, XM_006713459.5:c.2091G>A, XM_006713459.4:c.2091G>A, XM_006713459.3:c.2091G>A, XM_006713459.2:c.2091G>A, XM_006713459.1:c.2091G>A, XM_011512311.3:c.2325G>A, XM_011512311.2:c.2325G>A, XM_011512311.1:c.2325G>A, XM_011512312.3:c.2109G>A, XM_011512312.2:c.2109G>A, XM_011512312.1:c.2109G>A, NM_001002799.1:c.2250G>A

Select item 14888378926.

rs1488837892 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160428800 (GRCh38)
3:160146588 (GRCh37)
Canonical SPDI:: NC_000003.12:160428799:A:G
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.160428800A>G, NC_000003.11:g.160146588A>G, NG_050987.1:g.34497A>G, NM_005496.3:c.2653A>G, NM_001002800.3:c.2653A>G, NM_001002800.2:c.2653A>G, NM_001002800.1:c.2653A>G, NM_001288753.2:c.2578A>G, NM_001288753.1:c.2578A>G, XM_006713459.5:c.2419A>G, XM_006713459.4:c.2419A>G, XM_006713459.3:c.2419A>G, XM_006713459.2:c.2419A>G, XM_006713459.1:c.2419A>G, XM_011512311.3:c.2653A>G, XM_011512311.2:c.2653A>G, XM_011512311.1:c.2653A>G, XM_011512312.3:c.2437A>G, XM_011512312.2:c.2437A>G, XM_011512312.1:c.2437A>G, NM_001002799.1:c.2578A>G, NP_005487.3:p.Lys885Glu, NP_001002800.1:p.Lys885Glu, NP_001275682.1:p.Lys860Glu, XP_006713522.1:p.Lys807Glu, XP_011510613.1:p.Lys885Glu, XP_011510614.1:p.Lys813Glu

Select item 14885714537.

rs1488571453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160431181 (GRCh38)
3:160148969 (GRCh37)
Canonical SPDI:: NC_000003.12:160431180:T:C
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160431181T>C, NC_000003.11:g.160148969T>C, NG_050987.1:g.36878T>C, NM_005496.3:c.3090T>C, NM_001002800.3:c.3090T>C, NM_001002800.2:c.3090T>C, NM_001002800.1:c.3090T>C, NM_001288753.2:c.3015T>C, NM_001288753.1:c.3015T>C, XM_006713459.5:c.2856T>C, XM_006713459.4:c.2856T>C, XM_006713459.3:c.2856T>C, XM_006713459.2:c.2856T>C, XM_006713459.1:c.2856T>C, XM_011512311.3:c.3090T>C, XM_011512311.2:c.3090T>C, XM_011512311.1:c.3090T>C, XM_011512312.3:c.2874T>C, XM_011512312.2:c.2874T>C, XM_011512312.1:c.2874T>C, NM_001002799.1:c.*235T>C

Select item 14870646228.

rs1487064622 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:160404469 (GRCh38)
3:160122257 (GRCh37)
Canonical SPDI:: NC_000003.12:160404468:A:C
Gene:: SMC4 (Varview), MIR15B (Varview), MIR16-2 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160404469A>C, NC_000003.11:g.160122257A>C, NG_022932.1:g.64T>G, NG_050987.1:g.10166A>C, NM_005496.3:c.652A>C, NM_001002800.3:c.652A>C, NM_001002800.2:c.652A>C, NM_001002800.1:c.652A>C, NM_001288753.2:c.577A>C, NM_001288753.1:c.577A>C, XM_006713459.5:c.652A>C, XM_006713459.4:c.652A>C, XM_006713459.3:c.652A>C, XM_006713459.2:c.652A>C, XM_006713459.1:c.652A>C, XM_011512311.3:c.652A>C, XM_011512311.2:c.652A>C, XM_011512311.1:c.652A>C, XM_011512312.3:c.436A>C, XM_011512312.2:c.436A>C, XM_011512312.1:c.436A>C, NM_001002799.1:c.577A>C, NP_005487.3:p.Ile218Leu, NP_001002800.1:p.Ile218Leu, NP_001275682.1:p.Ile193Leu, XP_006713522.1:p.Ile218Leu, XP_011510613.1:p.Ile218Leu, XP_011510614.1:p.Ile146Leu

Select item 14855618199.

rs1485561819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:160431086 (GRCh38)
3:160148874 (GRCh37)
Canonical SPDI:: NC_000003.12:160431085:G:A,NC_000003.12:160431085:G:C
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000003.12:g.160431086G>A, NC_000003.12:g.160431086G>C, NC_000003.11:g.160148874G>A, NC_000003.11:g.160148874G>C, NG_050987.1:g.36783G>A, NG_050987.1:g.36783G>C, NM_005496.3:c.2995G>A, NM_005496.3:c.2995G>C, NM_001002800.3:c.2995G>A, NM_001002800.3:c.2995G>C, NM_001002800.2:c.2995G>A, NM_001002800.2:c.2995G>C, NM_001002800.1:c.2995G>A, NM_001002800.1:c.2995G>C, NM_001288753.2:c.2920G>A, NM_001288753.2:c.2920G>C, NM_001288753.1:c.2920G>A, NM_001288753.1:c.2920G>C, XM_006713459.5:c.2761G>A, XM_006713459.5:c.2761G>C, XM_006713459.4:c.2761G>A, XM_006713459.4:c.2761G>C, XM_006713459.3:c.2761G>A, XM_006713459.3:c.2761G>C, XM_006713459.2:c.2761G>A, XM_006713459.2:c.2761G>C, XM_006713459.1:c.2761G>A, XM_006713459.1:c.2761G>C, XM_011512311.3:c.2995G>A, XM_011512311.3:c.2995G>C, XM_011512311.2:c.2995G>A, XM_011512311.2:c.2995G>C, XM_011512311.1:c.2995G>A, XM_011512311.1:c.2995G>C, XM_011512312.3:c.2779G>A, XM_011512312.3:c.2779G>C, XM_011512312.2:c.2779G>A, XM_011512312.2:c.2779G>C, XM_011512312.1:c.2779G>A, XM_011512312.1:c.2779G>C, NM_001002799.1:c.*140G>A, NM_001002799.1:c.*140G>C, NP_005487.3:p.Val999Ile, NP_005487.3:p.Val999Leu, NP_001002800.1:p.Val999Ile, NP_001002800.1:p.Val999Leu, NP_001275682.1:p.Val974Ile, NP_001275682.1:p.Val974Leu, XP_006713522.1:p.Val921Ile, XP_006713522.1:p.Val921Leu, XP_011510613.1:p.Val999Ile, XP_011510613.1:p.Val999Leu, XP_011510614.1:p.Val927Ile, XP_011510614.1:p.Val927Leu

Select item 148551018110.

rs1485510181 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160432509 (GRCh38)
3:160150297 (GRCh37)
Canonical SPDI:: NC_000003.12:160432508:T:C
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160432509T>C, NC_000003.11:g.160150297T>C, NG_050987.1:g.38206T>C, NM_005496.3:c.3524T>C, NM_001002800.3:c.3524T>C, NM_001002800.2:c.3524T>C, NM_001002800.1:c.3524T>C, NM_001288753.2:c.3449T>C, NM_001288753.1:c.3449T>C, NG_083183.1:g.1208T>C, XM_006713459.5:c.3290T>C, XM_006713459.4:c.3290T>C, XM_006713459.3:c.3290T>C, XM_006713459.2:c.3290T>C, XM_006713459.1:c.3290T>C, XM_011512311.3:c.3524T>C, XM_011512311.2:c.3524T>C, XM_011512311.1:c.3524T>C, XM_011512312.3:c.3308T>C, XM_011512312.2:c.3308T>C, XM_011512312.1:c.3308T>C, NM_001002799.1:c.*669T>C, NP_005487.3:p.Met1175Thr, NP_001002800.1:p.Met1175Thr, NP_001275682.1:p.Met1150Thr, XP_006713522.1:p.Met1097Thr, XP_011510613.1:p.Met1175Thr, XP_011510614.1:p.Met1103Thr

Select item 148433334011.

rs1484333340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:160412389 (GRCh38)
3:160130177 (GRCh37)
Canonical SPDI:: NC_000003.12:160412388:A:C,NC_000003.12:160412388:A:G
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000003.12:g.160412389A>C, NC_000003.12:g.160412389A>G, NC_000003.11:g.160130177A>C, NC_000003.11:g.160130177A>G, NG_050987.1:g.18086A>C, NG_050987.1:g.18086A>G, NM_005496.3:c.916A>C, NM_005496.3:c.916A>G, NM_001002800.3:c.916A>C, NM_001002800.3:c.916A>G, NM_001002800.2:c.916A>C, NM_001002800.2:c.916A>G, NM_001002800.1:c.916A>C, NM_001002800.1:c.916A>G, NM_001288753.2:c.841A>C, NM_001288753.2:c.841A>G, NM_001288753.1:c.841A>C, NM_001288753.1:c.841A>G, XM_006713459.5:c.916A>C, XM_006713459.5:c.916A>G, XM_006713459.4:c.916A>C, XM_006713459.4:c.916A>G, XM_006713459.3:c.916A>C, XM_006713459.3:c.916A>G, XM_006713459.2:c.916A>C, XM_006713459.2:c.916A>G, XM_006713459.1:c.916A>C, XM_006713459.1:c.916A>G, XM_011512311.3:c.916A>C, XM_011512311.3:c.916A>G, XM_011512311.2:c.916A>C, XM_011512311.2:c.916A>G, XM_011512311.1:c.916A>C, XM_011512311.1:c.916A>G, XM_011512312.3:c.700A>C, XM_011512312.3:c.700A>G, XM_011512312.2:c.700A>C, XM_011512312.2:c.700A>G, XM_011512312.1:c.700A>C, XM_011512312.1:c.700A>G, NM_001002799.1:c.841A>C, NM_001002799.1:c.841A>G, NP_005487.3:p.Ile306Leu, NP_005487.3:p.Ile306Val, NP_001002800.1:p.Ile306Leu, NP_001002800.1:p.Ile306Val, NP_001275682.1:p.Ile281Leu, NP_001275682.1:p.Ile281Val, XP_006713522.1:p.Ile306Leu, XP_006713522.1:p.Ile306Val, XP_011510613.1:p.Ile306Leu, XP_011510613.1:p.Ile306Val, XP_011510614.1:p.Ile234Leu, XP_011510614.1:p.Ile234Val

Select item 148432548112.

rs1484325481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:160423838 (GRCh38)
3:160141626 (GRCh37)
Canonical SPDI:: NC_000003.12:160423837:G:C
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160423838G>C, NC_000003.11:g.160141626G>C, NG_050987.1:g.29535G>C, NM_005496.3:c.2323G>C, NM_001002800.3:c.2323G>C, NM_001002800.2:c.2323G>C, NM_001002800.1:c.2323G>C, NM_001288753.2:c.2248G>C, NM_001288753.1:c.2248G>C, XM_006713459.5:c.2089G>C, XM_006713459.4:c.2089G>C, XM_006713459.3:c.2089G>C, XM_006713459.2:c.2089G>C, XM_006713459.1:c.2089G>C, XM_011512311.3:c.2323G>C, XM_011512311.2:c.2323G>C, XM_011512311.1:c.2323G>C, XM_011512312.3:c.2107G>C, XM_011512312.2:c.2107G>C, XM_011512312.1:c.2107G>C, NM_001002799.1:c.2248G>C, NP_005487.3:p.Glu775Gln, NP_001002800.1:p.Glu775Gln, NP_001275682.1:p.Glu750Gln, XP_006713522.1:p.Glu697Gln, XP_011510613.1:p.Glu775Gln, XP_011510614.1:p.Glu703Gln

Select item 148344868713.

rs1483448687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160424912 (GRCh38)
3:160142700 (GRCh37)
Canonical SPDI:: NC_000003.12:160424911:A:G
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.160424912A>G, NC_000003.11:g.160142700A>G, NG_050987.1:g.30609A>G, NM_005496.3:c.2371A>G, NM_001002800.3:c.2371A>G, NM_001002800.2:c.2371A>G, NM_001002800.1:c.2371A>G, NM_001288753.2:c.2296A>G, NM_001288753.1:c.2296A>G, XM_006713459.5:c.2137A>G, XM_006713459.4:c.2137A>G, XM_006713459.3:c.2137A>G, XM_006713459.2:c.2137A>G, XM_006713459.1:c.2137A>G, XM_011512311.3:c.2371A>G, XM_011512311.2:c.2371A>G, XM_011512311.1:c.2371A>G, XM_011512312.3:c.2155A>G, XM_011512312.2:c.2155A>G, XM_011512312.1:c.2155A>G, NM_001002799.1:c.2296A>G, NP_005487.3:p.Met791Val, NP_001002800.1:p.Met791Val, NP_001275682.1:p.Met766Val, XP_006713522.1:p.Met713Val, XP_011510613.1:p.Met791Val, XP_011510614.1:p.Met719Val

Select item 148236902114.

rs1482369021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160413484 (GRCh38)
3:160131272 (GRCh37)
Canonical SPDI:: NC_000003.12:160413483:A:G
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160413484A>G, NC_000003.11:g.160131272A>G, NG_050987.1:g.19181A>G, NM_005496.3:c.992A>G, NM_001002800.3:c.992A>G, NM_001002800.2:c.992A>G, NM_001002800.1:c.992A>G, NM_001288753.2:c.917A>G, NM_001288753.1:c.917A>G, XM_006713459.5:c.992A>G, XM_006713459.4:c.992A>G, XM_006713459.3:c.992A>G, XM_006713459.2:c.992A>G, XM_006713459.1:c.992A>G, XM_011512311.3:c.992A>G, XM_011512311.2:c.992A>G, XM_011512311.1:c.992A>G, XM_011512312.3:c.776A>G, XM_011512312.2:c.776A>G, XM_011512312.1:c.776A>G, NM_001002799.1:c.917A>G, NP_005487.3:p.Gln331Arg, NP_001002800.1:p.Gln331Arg, NP_001275682.1:p.Gln306Arg, XP_006713522.1:p.Gln331Arg, XP_011510613.1:p.Gln331Arg, XP_011510614.1:p.Gln259Arg

Select item 148229608715.

rs1482296087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:160432450 (GRCh38)
3:160150238 (GRCh37)
Canonical SPDI:: NC_000003.12:160432449:G:A
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.160432450G>A, NC_000003.11:g.160150238G>A, NG_050987.1:g.38147G>A, NM_005496.3:c.3465G>A, NM_001002800.3:c.3465G>A, NM_001002800.2:c.3465G>A, NM_001002800.1:c.3465G>A, NM_001288753.2:c.3390G>A, NM_001288753.1:c.3390G>A, NG_083183.1:g.1149G>A, XM_006713459.5:c.3231G>A, XM_006713459.4:c.3231G>A, XM_006713459.3:c.3231G>A, XM_006713459.2:c.3231G>A, XM_006713459.1:c.3231G>A, XM_011512311.3:c.3465G>A, XM_011512311.2:c.3465G>A, XM_011512311.1:c.3465G>A, XM_011512312.3:c.3249G>A, XM_011512312.2:c.3249G>A, XM_011512312.1:c.3249G>A, NM_001002799.1:c.*610G>A

Select item 148213449216.

rs1482134492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:160419499 (GRCh38)
3:160137287 (GRCh37)
Canonical SPDI:: NC_000003.12:160419498:C:A
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000003.12:g.160419499C>A, NC_000003.11:g.160137287C>A, NG_050987.1:g.25196C>A, NM_005496.3:c.1813C>A, NM_001002800.3:c.1813C>A, NM_001002800.2:c.1813C>A, NM_001002800.1:c.1813C>A, NM_001288753.2:c.1738C>A, NM_001288753.1:c.1738C>A, XM_006713459.5:c.1579C>A, XM_006713459.4:c.1579C>A, XM_006713459.3:c.1579C>A, XM_006713459.2:c.1579C>A, XM_006713459.1:c.1579C>A, XM_011512311.3:c.1813C>A, XM_011512311.2:c.1813C>A, XM_011512311.1:c.1813C>A, XM_011512312.3:c.1597C>A, XM_011512312.2:c.1597C>A, XM_011512312.1:c.1597C>A, NM_001002799.1:c.1738C>A, NP_005487.3:p.Gln605Lys, NP_001002800.1:p.Gln605Lys, NP_001275682.1:p.Gln580Lys, XP_006713522.1:p.Gln527Lys, XP_011510613.1:p.Gln605Lys, XP_011510614.1:p.Gln533Lys

Select item 148086119517.

rs1480861195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160428922 (GRCh38)
3:160146710 (GRCh37)
Canonical SPDI:: NC_000003.12:160428921:A:G
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.160428922A>G, NC_000003.11:g.160146710A>G, NG_050987.1:g.34619A>G, NM_005496.3:c.2775A>G, NM_001002800.3:c.2775A>G, NM_001002800.2:c.2775A>G, NM_001002800.1:c.2775A>G, NM_001288753.2:c.2700A>G, NM_001288753.1:c.2700A>G, XM_006713459.5:c.2541A>G, XM_006713459.4:c.2541A>G, XM_006713459.3:c.2541A>G, XM_006713459.2:c.2541A>G, XM_006713459.1:c.2541A>G, XM_011512311.3:c.2775A>G, XM_011512311.2:c.2775A>G, XM_011512311.1:c.2775A>G, XM_011512312.3:c.2559A>G, XM_011512312.2:c.2559A>G, XM_011512312.1:c.2559A>G, NM_001002799.1:c.2700A>G

Select item 147864143218.

rs1478641432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160420790 (GRCh38)
3:160138578 (GRCh37)
Canonical SPDI:: NC_000003.12:160420789:T:C
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160420790T>C, NC_000003.11:g.160138578T>C, NG_050987.1:g.26487T>C, NM_005496.3:c.1908T>C, NM_001002800.3:c.1908T>C, NM_001002800.2:c.1908T>C, NM_001002800.1:c.1908T>C, NM_001288753.2:c.1833T>C, NM_001288753.1:c.1833T>C, XM_006713459.5:c.1674T>C, XM_006713459.4:c.1674T>C, XM_006713459.3:c.1674T>C, XM_006713459.2:c.1674T>C, XM_006713459.1:c.1674T>C, XM_011512311.3:c.1908T>C, XM_011512311.2:c.1908T>C, XM_011512311.1:c.1908T>C, XM_011512312.3:c.1692T>C, XM_011512312.2:c.1692T>C, XM_011512312.1:c.1692T>C, NM_001002799.1:c.1833T>C

Select item 147724962519.

rs1477249625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:160431126 (GRCh38)
3:160148914 (GRCh37)
Canonical SPDI:: NC_000003.12:160431125:T:C
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000003.12:g.160431126T>C, NC_000003.11:g.160148914T>C, NG_050987.1:g.36823T>C, NM_005496.3:c.3035T>C, NM_001002800.3:c.3035T>C, NM_001002800.2:c.3035T>C, NM_001002800.1:c.3035T>C, NM_001288753.2:c.2960T>C, NM_001288753.1:c.2960T>C, XM_006713459.5:c.2801T>C, XM_006713459.4:c.2801T>C, XM_006713459.3:c.2801T>C, XM_006713459.2:c.2801T>C, XM_006713459.1:c.2801T>C, XM_011512311.3:c.3035T>C, XM_011512311.2:c.3035T>C, XM_011512311.1:c.3035T>C, XM_011512312.3:c.2819T>C, XM_011512312.2:c.2819T>C, XM_011512312.1:c.2819T>C, NM_001002799.1:c.*180T>C, NP_005487.3:p.Leu1012Pro, NP_001002800.1:p.Leu1012Pro, NP_001275682.1:p.Leu987Pro, XP_006713522.1:p.Leu934Pro, XP_011510613.1:p.Leu1012Pro, XP_011510614.1:p.Leu940Pro

Select item 147621928320.

rs1476219283 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:160416354 (GRCh38)
3:160134142 (GRCh37)
Canonical SPDI:: NC_000003.12:160416353:A:G
Gene:: SMC4 (Varview), TRIM59-IFT80 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.160416354A>G, NC_000003.11:g.160134142A>G, NG_050987.1:g.22051A>G, NM_005496.3:c.1376A>G, NM_001002800.3:c.1376A>G, NM_001002800.2:c.1376A>G, NM_001002800.1:c.1376A>G, NM_001288753.2:c.1301A>G, NM_001288753.1:c.1301A>G, XM_006713459.5:c.1376A>G, XM_006713459.4:c.1376A>G, XM_006713459.3:c.1376A>G, XM_006713459.2:c.1376A>G, XM_006713459.1:c.1376A>G, XM_011512311.3:c.1376A>G, XM_011512311.2:c.1376A>G, XM_011512311.1:c.1376A>G, XM_011512312.3:c.1160A>G, XM_011512312.2:c.1160A>G, XM_011512312.1:c.1160A>G, NM_001002799.1:c.1301A>G, NP_005487.3:p.Lys459Arg, NP_001002800.1:p.Lys459Arg, NP_001275682.1:p.Lys434Arg, XP_006713522.1:p.Lys459Arg, XP_011510613.1:p.Lys459Arg, XP_011510614.1:p.Lys387Arg

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 1134

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 1134

Page of 57

Page of 57

Display Settings:

Supplemental Content

Find related data

Recent activity