SNP Links for Protein (Select 56550055) - SNP

Links from Protein

Items: 1 to 20 of 126

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Select item 14901109771.

rs1490110977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:88055883 (GRCh38)
3:88105033 (GRCh37)
Canonical SPDI:: NC_000003.12:88055882:C:T
Gene:: CGGBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_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_000003.12:g.88055883C>T, NC_000003.11:g.88105033C>T, NM_003663.4:c.94G>A, NM_003663.3:c.94G>A, XM_024453797.2:c.94G>A, XM_024453797.1:c.94G>A, NM_001008390.2:c.94G>A, NM_001008390.1:c.94G>A, NM_001195308.2:c.94G>A, NM_001195308.1:c.94G>A, XM_047449091.1:c.*237G>A, XM_047449092.1:c.94G>A, NP_003654.3:p.Gly32Ser, XP_024309565.1:p.Gly32Ser, NP_001008391.1:p.Gly32Ser, NP_001182237.1:p.Gly32Ser, XP_047305048.1:p.Gly32Ser

Select item 14884250352.

rs1488425035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:88055483 (GRCh38)
3:88104633 (GRCh37)
Canonical SPDI:: NC_000003.12:88055482:T:A
Gene:: CGGBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.88055483T>A, NC_000003.11:g.88104633T>A, NM_003663.4:c.494A>T, NM_003663.3:c.494A>T, XM_024453797.2:c.494A>T, XM_024453797.1:c.494A>T, NM_001008390.2:c.494A>T, NM_001008390.1:c.494A>T, NM_001195308.2:c.494A>T, NM_001195308.1:c.494A>T, XM_047449091.1:c.*637A>T, XM_047449092.1:c.494A>T, NP_003654.3:p.Gln165Leu, XP_024309565.1:p.Gln165Leu, NP_001008391.1:p.Gln165Leu, NP_001182237.1:p.Gln165Leu, XP_047305048.1:p.Gln165Leu

Select item 14863337303.

rs1486333730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:88055661 (GRCh38)
3:88104811 (GRCh37)
Canonical SPDI:: NC_000003.12:88055660:C:G
Gene:: CGGBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.88055661C>G, NC_000003.11:g.88104811C>G, NM_003663.4:c.316G>C, NM_003663.3:c.316G>C, XM_024453797.2:c.316G>C, XM_024453797.1:c.316G>C, NM_001008390.2:c.316G>C, NM_001008390.1:c.316G>C, NM_001195308.2:c.316G>C, NM_001195308.1:c.316G>C, XM_047449091.1:c.*459G>C, XM_047449092.1:c.316G>C, NP_003654.3:p.Asp106His, XP_024309565.1:p.Asp106His, NP_001008391.1:p.Asp106His, NP_001182237.1:p.Asp106His, XP_047305048.1:p.Asp106His

Select item 14823793964.

rs1482379396 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:88055554 (GRCh38)
3:88104704 (GRCh37)
Canonical SPDI:: NC_000003.12:88055553:A:G
Gene:: CGGBP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
HGVS:: NC_000003.12:g.88055554A>G, NC_000003.11:g.88104704A>G, NM_003663.4:c.423T>C, NM_003663.3:c.423T>C, XM_024453797.2:c.423T>C, XM_024453797.1:c.423T>C, NM_001008390.2:c.423T>C, NM_001008390.1:c.423T>C, NM_001195308.2:c.423T>C, NM_001195308.1:c.423T>C, XM_047449091.1:c.*566T>C, XM_047449092.1:c.423T>C

Select item 14755490135.

rs1475549013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:88055667 (GRCh38)
3:88104817 (GRCh37)
Canonical SPDI:: NC_000003.12:88055666:T:C
Gene:: CGGBP1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.88055667T>C, NC_000003.11:g.88104817T>C, NM_003663.4:c.310A>G, NM_003663.3:c.310A>G, XM_024453797.2:c.310A>G, XM_024453797.1:c.310A>G, NM_001008390.2:c.310A>G, NM_001008390.1:c.310A>G, NM_001195308.2:c.310A>G, NM_001195308.1:c.310A>G, XM_047449091.1:c.*453A>G, XM_047449092.1:c.310A>G, NP_003654.3:p.Ile104Val, XP_024309565.1:p.Ile104Val, NP_001008391.1:p.Ile104Val, NP_001182237.1:p.Ile104Val, XP_047305048.1:p.Ile104Val

Select item 14736053346.

rs1473605334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:88055821 (GRCh38)
3:88104971 (GRCh37)
Canonical SPDI:: NC_000003.12:88055820:A:C,NC_000003.12:88055820:A:G
Gene:: CGGBP1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.88055821A>C, NC_000003.12:g.88055821A>G, NC_000003.11:g.88104971A>C, NC_000003.11:g.88104971A>G, NM_003663.4:c.156T>G, NM_003663.4:c.156T>C, NM_003663.3:c.156T>G, NM_003663.3:c.156T>C, XM_024453797.2:c.156T>G, XM_024453797.2:c.156T>C, XM_024453797.1:c.156T>G, XM_024453797.1:c.156T>C, NM_001008390.2:c.156T>G, NM_001008390.2:c.156T>C, NM_001008390.1:c.156T>G, NM_001008390.1:c.156T>C, NM_001195308.2:c.156T>G, NM_001195308.2:c.156T>C, NM_001195308.1:c.156T>G, NM_001195308.1:c.156T>C, XM_047449091.1:c.*299T>G, XM_047449091.1:c.*299T>C, XM_047449092.1:c.156T>G, XM_047449092.1:c.156T>C, NP_003654.3:p.His52Gln, XP_024309565.1:p.His52Gln, NP_001008391.1:p.His52Gln, NP_001182237.1:p.His52Gln, XP_047305048.1:p.His52Gln

Select item 14641861237.

rs1464186123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:88055839 (GRCh38)
3:88104989 (GRCh37)
Canonical SPDI:: NC_000003.12:88055838:G:A
Gene:: CGGBP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.88055839G>A, NC_000003.11:g.88104989G>A, NM_003663.4:c.138C>T, NM_003663.3:c.138C>T, XM_024453797.2:c.138C>T, XM_024453797.1:c.138C>T, NM_001008390.2:c.138C>T, NM_001008390.1:c.138C>T, NM_001195308.2:c.138C>T, NM_001195308.1:c.138C>T, XM_047449091.1:c.*281C>T, XM_047449092.1:c.138C>T

Select item 14627337208.

rs1462733720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:88055503 (GRCh38)
3:88104653 (GRCh37)
Canonical SPDI:: NC_000003.12:88055502:C:G
Gene:: CGGBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.88055503C>G, NC_000003.11:g.88104653C>G, NM_003663.4:c.474G>C, NM_003663.3:c.474G>C, XM_024453797.2:c.474G>C, XM_024453797.1:c.474G>C, NM_001008390.2:c.474G>C, NM_001008390.1:c.474G>C, NM_001195308.2:c.474G>C, NM_001195308.1:c.474G>C, XM_047449091.1:c.*617G>C, XM_047449092.1:c.474G>C, NP_003654.3:p.Glu158Asp, XP_024309565.1:p.Glu158Asp, NP_001008391.1:p.Glu158Asp, NP_001182237.1:p.Glu158Asp, XP_047305048.1:p.Glu158Asp

Select item 14514529189.

rs1451452918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:88055545 (GRCh38)
3:88104695 (GRCh37)
Canonical SPDI:: NC_000003.12:88055544:G:A
Gene:: CGGBP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.88055545G>A, NC_000003.11:g.88104695G>A, NM_003663.4:c.432C>T, NM_003663.3:c.432C>T, XM_024453797.2:c.432C>T, XM_024453797.1:c.432C>T, NM_001008390.2:c.432C>T, NM_001008390.1:c.432C>T, NM_001195308.2:c.432C>T, NM_001195308.1:c.432C>T, XM_047449091.1:c.*575C>T, XM_047449092.1:c.432C>T

Select item 144978747510.

rs1449787475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:88055864 (GRCh38)
3:88105014 (GRCh37)
Canonical SPDI:: NC_000003.12:88055863:C:G
Gene:: CGGBP1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.88055864C>G, NC_000003.11:g.88105014C>G, NM_003663.4:c.113G>C, NM_003663.3:c.113G>C, XM_024453797.2:c.113G>C, XM_024453797.1:c.113G>C, NM_001008390.2:c.113G>C, NM_001008390.1:c.113G>C, NM_001195308.2:c.113G>C, NM_001195308.1:c.113G>C, XM_047449091.1:c.*256G>C, XM_047449092.1:c.113G>C, NP_003654.3:p.Gly38Ala, XP_024309565.1:p.Gly38Ala, NP_001008391.1:p.Gly38Ala, NP_001182237.1:p.Gly38Ala, XP_047305048.1:p.Gly38Ala

Select item 144281821911.

rs1442818219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:88055527 (GRCh38)
3:88104677 (GRCh37)
Canonical SPDI:: NC_000003.12:88055526:A:G
Gene:: CGGBP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
HGVS:: NC_000003.12:g.88055527A>G, NC_000003.11:g.88104677A>G, NM_003663.4:c.450T>C, NM_003663.3:c.450T>C, XM_024453797.2:c.450T>C, XM_024453797.1:c.450T>C, NM_001008390.2:c.450T>C, NM_001008390.1:c.450T>C, NM_001195308.2:c.450T>C, NM_001195308.1:c.450T>C, XM_047449091.1:c.*593T>C, XM_047449092.1:c.450T>C

Select item 143179778512.

rs1431797785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:88055696 (GRCh38)
3:88104846 (GRCh37)
Canonical SPDI:: NC_000003.12:88055695:C:G
Gene:: CGGBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.88055696C>G, NC_000003.11:g.88104846C>G, NM_003663.4:c.281G>C, NM_003663.3:c.281G>C, XM_024453797.2:c.281G>C, XM_024453797.1:c.281G>C, NM_001008390.2:c.281G>C, NM_001008390.1:c.281G>C, NM_001195308.2:c.281G>C, NM_001195308.1:c.281G>C, XM_047449091.1:c.*424G>C, XM_047449092.1:c.281G>C, NP_003654.3:p.Ser94Thr, XP_024309565.1:p.Ser94Thr, NP_001008391.1:p.Ser94Thr, NP_001182237.1:p.Ser94Thr, XP_047305048.1:p.Ser94Thr

Select item 142902685613.

rs1429026856 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:88055673 (GRCh38)
3:88104823 (GRCh37)
Canonical SPDI:: NC_000003.12:88055672:T:C
Gene:: CGGBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_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)
HGVS:: NC_000003.12:g.88055673T>C, NC_000003.11:g.88104823T>C, NM_003663.4:c.304A>G, NM_003663.3:c.304A>G, XM_024453797.2:c.304A>G, XM_024453797.1:c.304A>G, NM_001008390.2:c.304A>G, NM_001008390.1:c.304A>G, NM_001195308.2:c.304A>G, NM_001195308.1:c.304A>G, XM_047449091.1:c.*447A>G, XM_047449092.1:c.304A>G, NP_003654.3:p.Ser102Gly, XP_024309565.1:p.Ser102Gly, NP_001008391.1:p.Ser102Gly, NP_001182237.1:p.Ser102Gly, XP_047305048.1:p.Ser102Gly

Select item 142586644914.

rs1425866449 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:88055747 (GRCh38)
3:88104897 (GRCh37)
Canonical SPDI:: NC_000003.12:88055746:T:C
Gene:: CGGBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000003.12:g.88055747T>C, NC_000003.11:g.88104897T>C, NM_003663.4:c.230A>G, NM_003663.3:c.230A>G, XM_024453797.2:c.230A>G, XM_024453797.1:c.230A>G, NM_001008390.2:c.230A>G, NM_001008390.1:c.230A>G, NM_001195308.2:c.230A>G, NM_001195308.1:c.230A>G, XM_047449091.1:c.*373A>G, XM_047449092.1:c.230A>G, NP_003654.3:p.Gln77Arg, XP_024309565.1:p.Gln77Arg, NP_001008391.1:p.Gln77Arg, NP_001182237.1:p.Gln77Arg, XP_047305048.1:p.Gln77Arg

Select item 141807670915.

rs1418076709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:88055497 (GRCh38)
3:88104647 (GRCh37)
Canonical SPDI:: NC_000003.12:88055496:T:C
Gene:: CGGBP1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
HGVS:: NC_000003.12:g.88055497T>C, NC_000003.11:g.88104647T>C, NM_003663.4:c.480A>G, NM_003663.3:c.480A>G, XM_024453797.2:c.480A>G, XM_024453797.1:c.480A>G, NM_001008390.2:c.480A>G, NM_001008390.1:c.480A>G, NM_001195308.2:c.480A>G, NM_001195308.1:c.480A>G, XM_047449091.1:c.*623A>G, XM_047449092.1:c.480A>G

Select item 141263328516.

rs1412633285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:88055583 (GRCh38)
3:88104733 (GRCh37)
Canonical SPDI:: NC_000003.12:88055582:G:A
Gene:: CGGBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.88055583G>A, NC_000003.11:g.88104733G>A, NM_003663.4:c.394C>T, NM_003663.3:c.394C>T, XM_024453797.2:c.394C>T, XM_024453797.1:c.394C>T, NM_001008390.2:c.394C>T, NM_001008390.1:c.394C>T, NM_001195308.2:c.394C>T, NM_001195308.1:c.394C>T, XM_047449091.1:c.*537C>T, XM_047449092.1:c.394C>T, NP_003654.3:p.Arg132Cys, XP_024309565.1:p.Arg132Cys, NP_001008391.1:p.Arg132Cys, NP_001182237.1:p.Arg132Cys, XP_047305048.1:p.Arg132Cys

Select item 140951455917.

rs1409514559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:88055491 (GRCh38)
3:88104641 (GRCh37)
Canonical SPDI:: NC_000003.12:88055490:G:A
Gene:: CGGBP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
HGVS:: NC_000003.12:g.88055491G>A, NC_000003.11:g.88104641G>A, NM_003663.4:c.486C>T, NM_003663.3:c.486C>T, XM_024453797.2:c.486C>T, XM_024453797.1:c.486C>T, NM_001008390.2:c.486C>T, NM_001008390.1:c.486C>T, NM_001195308.2:c.486C>T, NM_001195308.1:c.486C>T, XM_047449091.1:c.*629C>T, XM_047449092.1:c.486C>T

Select item 140919061818.

rs1409190618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:88055599 (GRCh38)
3:88104749 (GRCh37)
Canonical SPDI:: NC_000003.12:88055598:G:C
Gene:: CGGBP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.88055599G>C, NC_000003.11:g.88104749G>C, NM_003663.4:c.378C>G, NM_003663.3:c.378C>G, XM_024453797.2:c.378C>G, XM_024453797.1:c.378C>G, NM_001008390.2:c.378C>G, NM_001008390.1:c.378C>G, NM_001195308.2:c.378C>G, NM_001195308.1:c.378C>G, XM_047449091.1:c.*521C>G, XM_047449092.1:c.378C>G

Select item 140304086019.

rs1403040860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:88055509 (GRCh38)
3:88104659 (GRCh37)
Canonical SPDI:: NC_000003.12:88055508:C:G
Gene:: CGGBP1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.88055509C>G, NC_000003.11:g.88104659C>G, NM_003663.4:c.468G>C, NM_003663.3:c.468G>C, XM_024453797.2:c.468G>C, XM_024453797.1:c.468G>C, NM_001008390.2:c.468G>C, NM_001008390.1:c.468G>C, NM_001195308.2:c.468G>C, NM_001195308.1:c.468G>C, XM_047449091.1:c.*611G>C, XM_047449092.1:c.468G>C, NP_003654.3:p.Glu156Asp, XP_024309565.1:p.Glu156Asp, NP_001008391.1:p.Glu156Asp, NP_001182237.1:p.Glu156Asp, XP_047305048.1:p.Glu156Asp

Select item 140166989420.

rs1401669894 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:88055759 (GRCh38)
3:88104909 (GRCh37)
Canonical SPDI:: NC_000003.12:88055758:T:G
Gene:: CGGBP1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.88055759T>G, NC_000003.11:g.88104909T>G, NM_003663.4:c.218A>C, NM_003663.3:c.218A>C, XM_024453797.2:c.218A>C, XM_024453797.1:c.218A>C, NM_001008390.2:c.218A>C, NM_001008390.1:c.218A>C, NM_001195308.2:c.218A>C, NM_001195308.1:c.218A>C, XM_047449091.1:c.*361A>C, XM_047449092.1:c.218A>C, NP_003654.3:p.Glu73Ala, XP_024309565.1:p.Glu73Ala, NP_001008391.1:p.Glu73Ala, NP_001182237.1:p.Glu73Ala, XP_047305048.1:p.Glu73Ala

dbSNP

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