SNP Links for Protein (Select 1060099007) - SNP

Select item 14902088801.

rs1490208880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:58578042 (GRCh38)
8:59490601 (GRCh37)
Canonical SPDI:: NC_000008.11:58578041:G:T
Gene:: SDCBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.58578042G>T, NC_000008.10:g.59490601G>T, NM_005625.4:c.412G>T, NM_005625.3:c.412G>T, NM_001348341.2:c.475G>T, NM_001348341.1:c.475G>T, NM_001348340.2:c.472G>T, NM_001348340.1:c.472G>T, NM_001330537.2:c.472G>T, NM_001330537.1:c.472G>T, NM_001007069.2:c.409G>T, NM_001007069.1:c.409G>T, NM_001007067.2:c.412G>T, NM_001007067.1:c.412G>T, NM_001007070.2:c.409G>T, NM_001007070.1:c.409G>T, NM_001007068.2:c.394G>T, NM_001007068.1:c.394G>T, XM_047422077.1:c.469G>T, NP_005616.2:p.Val138Phe, NP_001335270.1:p.Val159Phe, NP_001335269.1:p.Val158Phe, NP_001317466.1:p.Val158Phe, NP_001007070.1:p.Val137Phe, NP_001007068.1:p.Val138Phe, NP_001007071.1:p.Val137Phe, NP_001007069.1:p.Val132Phe, XP_047278033.1:p.Val157Phe

Select item 14900055432.

rs1490005543 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:58581708 (GRCh38)
8:59494267 (GRCh37)
Canonical SPDI:: NC_000008.11:58581707:A:T
Gene:: SDCBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.58581708A>T, NC_000008.10:g.59494267A>T, NM_005625.4:c.865A>T, NM_005625.3:c.865A>T, NM_001348341.2:c.928A>T, NM_001348341.1:c.928A>T, NM_001348340.2:c.925A>T, NM_001348340.1:c.925A>T, NM_001330537.2:c.925A>T, NM_001330537.1:c.925A>T, NM_001007069.2:c.862A>T, NM_001007069.1:c.862A>T, NM_001007067.2:c.865A>T, NM_001007067.1:c.865A>T, NM_001007070.2:c.862A>T, NM_001007070.1:c.862A>T, NM_001007068.2:c.847A>T, NM_001007068.1:c.847A>T, NM_001348339.2:c.688A>T, NM_001348339.1:c.688A>T, XM_047422077.1:c.922A>T, NP_005616.2:p.Ser289Cys, NP_001335270.1:p.Ser310Cys, NP_001335269.1:p.Ser309Cys, NP_001317466.1:p.Ser309Cys, NP_001007070.1:p.Ser288Cys, NP_001007068.1:p.Ser289Cys, NP_001007071.1:p.Ser288Cys, NP_001007069.1:p.Ser283Cys, NP_001335268.1:p.Ser230Cys, XP_047278033.1:p.Ser308Cys

Select item 14859133823.

rs1485913382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:58579743 (GRCh38)
8:59492302 (GRCh37)
Canonical SPDI:: NC_000008.11:58579742:C:T
Gene:: SDCBP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000008.11:g.58579743C>T, NC_000008.10:g.59492302C>T, NM_005625.4:c.699C>T, NM_005625.3:c.699C>T, NM_001348341.2:c.762C>T, NM_001348341.1:c.762C>T, NM_001348340.2:c.759C>T, NM_001348340.1:c.759C>T, NM_001330537.2:c.759C>T, NM_001330537.1:c.759C>T, NM_001007069.2:c.696C>T, NM_001007069.1:c.696C>T, NM_001007067.2:c.699C>T, NM_001007067.1:c.699C>T, NM_001007070.2:c.696C>T, NM_001007070.1:c.696C>T, NM_001007068.2:c.681C>T, NM_001007068.1:c.681C>T, NM_001348339.2:c.522C>T, NM_001348339.1:c.522C>T, XM_047422077.1:c.756C>T

Select item 14829055104.

rs1482905510 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:58575994 (GRCh38)
8:59488553 (GRCh37)
Canonical SPDI:: NC_000008.11:58575993:TT:T
Gene:: SDCBP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.58575995del, NC_000008.10:g.59488554del, NM_005625.4:c.336del, NM_005625.3:c.336del, NM_001348341.2:c.399del, NM_001348341.1:c.399del, NM_001348340.2:c.396del, NM_001348340.1:c.396del, NM_001330537.2:c.396del, NM_001330537.1:c.396del, NM_001007069.2:c.333del, NM_001007069.1:c.333del, NM_001007067.2:c.336del, NM_001007067.1:c.336del, NM_001007070.2:c.333del, NM_001007070.1:c.333del, NM_001007068.2:c.318del, NM_001007068.1:c.318del, XM_047422077.1:c.393del, NP_005616.2:p.Arg113fs, NP_001335270.1:p.Arg134fs, NP_001335269.1:p.Arg133fs, NP_001317466.1:p.Arg133fs, NP_001007070.1:p.Arg112fs, NP_001007068.1:p.Arg113fs, NP_001007071.1:p.Arg112fs, NP_001007069.1:p.Arg107fs, XP_047278033.1:p.Arg132fs

Select item 14816517095.

rs1481651709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:58578098 (GRCh38)
8:59490657 (GRCh37)
Canonical SPDI:: NC_000008.11:58578097:C:A,NC_000008.11:58578097:C:T
Gene:: SDCBP (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.58578098C>A, NC_000008.11:g.58578098C>T, NC_000008.10:g.59490657C>A, NC_000008.10:g.59490657C>T, NM_005625.4:c.468C>A, NM_005625.4:c.468C>T, NM_005625.3:c.468C>A, NM_005625.3:c.468C>T, NM_001348341.2:c.531C>A, NM_001348341.2:c.531C>T, NM_001348341.1:c.531C>A, NM_001348341.1:c.531C>T, NM_001348340.2:c.528C>A, NM_001348340.2:c.528C>T, NM_001348340.1:c.528C>A, NM_001348340.1:c.528C>T, NM_001330537.2:c.528C>A, NM_001330537.2:c.528C>T, NM_001330537.1:c.528C>A, NM_001330537.1:c.528C>T, NM_001007069.2:c.465C>A, NM_001007069.2:c.465C>T, NM_001007069.1:c.465C>A, NM_001007069.1:c.465C>T, NM_001007067.2:c.468C>A, NM_001007067.2:c.468C>T, NM_001007067.1:c.468C>A, NM_001007067.1:c.468C>T, NM_001007070.2:c.465C>A, NM_001007070.2:c.465C>T, NM_001007070.1:c.465C>A, NM_001007070.1:c.465C>T, NM_001007068.2:c.450C>A, NM_001007068.2:c.450C>T, NM_001007068.1:c.450C>A, NM_001007068.1:c.450C>T, NM_001348339.2:c.291C>A, NM_001348339.2:c.291C>T, NM_001348339.1:c.291C>A, NM_001348339.1:c.291C>T, XM_047422077.1:c.525C>A, XM_047422077.1:c.525C>T, NP_005616.2:p.Asp156Glu, NP_001335270.1:p.Asp177Glu, NP_001335269.1:p.Asp176Glu, NP_001317466.1:p.Asp176Glu, NP_001007070.1:p.Asp155Glu, NP_001007068.1:p.Asp156Glu, NP_001007071.1:p.Asp155Glu, NP_001007069.1:p.Asp150Glu, NP_001335268.1:p.Asp97Glu, XP_047278033.1:p.Asp175Glu

Select item 14783458596.

rs1478345859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:58579770 (GRCh38)
8:59492329 (GRCh37)
Canonical SPDI:: NC_000008.11:58579769:T:C,NC_000008.11:58579769:T:G
Gene:: SDCBP (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.58579770T>C, NC_000008.11:g.58579770T>G, NC_000008.10:g.59492329T>C, NC_000008.10:g.59492329T>G, NM_005625.4:c.726T>C, NM_005625.4:c.726T>G, NM_005625.3:c.726T>C, NM_005625.3:c.726T>G, NM_001348341.2:c.789T>C, NM_001348341.2:c.789T>G, NM_001348341.1:c.789T>C, NM_001348341.1:c.789T>G, NM_001348340.2:c.786T>C, NM_001348340.2:c.786T>G, NM_001348340.1:c.786T>C, NM_001348340.1:c.786T>G, NM_001330537.2:c.786T>C, NM_001330537.2:c.786T>G, NM_001330537.1:c.786T>C, NM_001330537.1:c.786T>G, NM_001007069.2:c.723T>C, NM_001007069.2:c.723T>G, NM_001007069.1:c.723T>C, NM_001007069.1:c.723T>G, NM_001007067.2:c.726T>C, NM_001007067.2:c.726T>G, NM_001007067.1:c.726T>C, NM_001007067.1:c.726T>G, NM_001007070.2:c.723T>C, NM_001007070.2:c.723T>G, NM_001007070.1:c.723T>C, NM_001007070.1:c.723T>G, NM_001007068.2:c.708T>C, NM_001007068.2:c.708T>G, NM_001007068.1:c.708T>C, NM_001007068.1:c.708T>G, NM_001348339.2:c.549T>C, NM_001348339.2:c.549T>G, NM_001348339.1:c.549T>C, NM_001348339.1:c.549T>G, XM_047422077.1:c.783T>C, XM_047422077.1:c.783T>G, NP_005616.2:p.Asn242Lys, NP_001335270.1:p.Asn263Lys, NP_001335269.1:p.Asn262Lys, NP_001317466.1:p.Asn262Lys, NP_001007070.1:p.Asn241Lys, NP_001007068.1:p.Asn242Lys, NP_001007071.1:p.Asn241Lys, NP_001007069.1:p.Asn236Lys, NP_001335268.1:p.Asn183Lys, XP_047278033.1:p.Asn261Lys

Select item 14687449177.

rs1468744917 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:58572206 (GRCh38)
8:59484765 (GRCh37)
Canonical SPDI:: NC_000008.11:58572205:T:G
Gene:: SDCBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.58572206T>G, NC_000008.10:g.59484765T>G, NM_005625.4:c.132T>G, NM_005625.3:c.132T>G, NM_001348341.2:c.195T>G, NM_001348341.1:c.195T>G, NM_001348340.2:c.192T>G, NM_001348340.1:c.192T>G, NM_001330537.2:c.195T>G, NM_001330537.1:c.195T>G, NM_001007069.2:c.132T>G, NM_001007069.1:c.132T>G, NM_001007067.2:c.132T>G, NM_001007067.1:c.132T>G, NM_001007070.2:c.132T>G, NM_001007070.1:c.132T>G, NM_001007068.2:c.114T>G, NM_001007068.1:c.114T>G, NM_001348339.2:c.132T>G, NM_001348339.1:c.132T>G, XM_047422077.1:c.192T>G, NP_005616.2:p.Asn44Lys, NP_001335270.1:p.Asn65Lys, NP_001335269.1:p.Asn64Lys, NP_001317466.1:p.Asn65Lys, NP_001007070.1:p.Asn44Lys, NP_001007068.1:p.Asn44Lys, NP_001007071.1:p.Asn44Lys, NP_001007069.1:p.Asn38Lys, NP_001335268.1:p.Asn44Lys, XP_047278033.1:p.Asn64Lys

Select item 14642845778.

rs1464284577 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 8:58572267 (GRCh38)
8:59484826 (GRCh37)
Canonical SPDI:: NC_000008.11:58572260:GAAGAAGAA:GAAGAA
Gene:: SDCBP (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.58572261GAA[2], NC_000008.10:g.59484820GAA[2], NM_005625.4:c.187GAA[2], NM_005625.3:c.187GAA[2], NM_001348341.2:c.250GAA[2], NM_001348341.1:c.250GAA[2], NM_001348340.2:c.247GAA[2], NM_001348340.1:c.247GAA[2], NM_001330537.2:c.250GAA[2], NM_001330537.1:c.250GAA[2], NM_001007069.2:c.187GAA[2], NM_001007069.1:c.187GAA[2], NM_001007067.2:c.187GAA[2], NM_001007067.1:c.187GAA[2], NM_001007070.2:c.187GAA[2], NM_001007070.1:c.187GAA[2], NM_001007068.2:c.169GAA[2], NM_001007068.1:c.169GAA[2], NM_001348339.2:c.187GAA[2], NM_001348339.1:c.187GAA[2], XM_047422077.1:c.247GAA[2], NP_005616.2:p.Glu65del, NP_001335270.1:p.Glu86del, NP_001335269.1:p.Glu85del, NP_001317466.1:p.Glu86del, NP_001007070.1:p.Glu65del, NP_001007068.1:p.Glu65del, NP_001007071.1:p.Glu65del, NP_001007069.1:p.Glu59del, NP_001335268.1:p.Glu65del, XP_047278033.1:p.Glu85del

Select item 14640698719.

rs1464069871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:58561774 (GRCh38)
8:59474333 (GRCh37)
Canonical SPDI:: NC_000008.11:58561773:C:A
Gene:: SDCBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.58561774C>A, NC_000008.10:g.59474333C>A, NM_001348341.2:c.27C>A, NM_001348341.1:c.27C>A, NM_001348340.2:c.27C>A, NM_001348340.1:c.27C>A, NM_001330537.2:c.27C>A, NM_001330537.1:c.27C>A, XM_047422077.1:c.27C>A, NP_001335270.1:p.Asp9Glu, NP_001335269.1:p.Asp9Glu, NP_001317466.1:p.Asp9Glu, XP_047278033.1:p.Asp9Glu

Select item 146386558910.

rs1463865589 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:58565080 (GRCh38)
8:59477639 (GRCh37)
Canonical SPDI:: NC_000008.11:58565079:TT:T
Gene:: SDCBP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.58565081del, NC_000008.10:g.59477640del, NM_005625.4:c.48del, NM_005625.3:c.48del, NM_001348341.2:c.111del, NM_001348341.1:c.111del, NM_001348340.2:c.108del, NM_001348340.1:c.108del, NM_001330537.2:c.111del, NM_001330537.1:c.111del, NM_001007069.2:c.48del, NM_001007069.1:c.48del, NM_001007067.2:c.48del, NM_001007067.1:c.48del, NM_001007070.2:c.48del, NM_001007070.1:c.48del, NM_001348339.2:c.48del, NM_001348339.1:c.48del, XM_047422077.1:c.108del, NP_005616.2:p.Gln17fs, NP_001335270.1:p.Gln38fs, NP_001335269.1:p.Gln37fs, NP_001317466.1:p.Gln38fs, NP_001007070.1:p.Gln17fs, NP_001007068.1:p.Gln17fs, NP_001007071.1:p.Gln17fs, NP_001335268.1:p.Gln17fs, XP_047278033.1:p.Gln37fs

Select item 146293073211.

rs1462930732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:58576017 (GRCh38)
8:59488576 (GRCh37)
Canonical SPDI:: NC_000008.11:58576016:G:A
Gene:: SDCBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000008.11:g.58576017G>A, NC_000008.10:g.59488576G>A, NM_005625.4:c.358G>A, NM_005625.3:c.358G>A, NM_001348341.2:c.421G>A, NM_001348341.1:c.421G>A, NM_001348340.2:c.418G>A, NM_001348340.1:c.418G>A, NM_001330537.2:c.418G>A, NM_001330537.1:c.418G>A, NM_001007069.2:c.355G>A, NM_001007069.1:c.355G>A, NM_001007067.2:c.358G>A, NM_001007067.1:c.358G>A, NM_001007070.2:c.355G>A, NM_001007070.1:c.355G>A, NM_001007068.2:c.340G>A, NM_001007068.1:c.340G>A, XM_047422077.1:c.415G>A, NP_005616.2:p.Asp120Asn, NP_001335270.1:p.Asp141Asn, NP_001335269.1:p.Asp140Asn, NP_001317466.1:p.Asp140Asn, NP_001007070.1:p.Asp119Asn, NP_001007068.1:p.Asp120Asn, NP_001007071.1:p.Asp119Asn, NP_001007069.1:p.Asp114Asn, XP_047278033.1:p.Asp139Asn

Select item 146103101212.

rs1461031012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:58578200 (GRCh38)
8:59490759 (GRCh37)
Canonical SPDI:: NC_000008.11:58578199:T:C
Gene:: SDCBP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.58578200T>C, NC_000008.10:g.59490759T>C, NM_005625.4:c.570T>C, NM_005625.3:c.570T>C, NM_001348341.2:c.633T>C, NM_001348341.1:c.633T>C, NM_001348340.2:c.630T>C, NM_001348340.1:c.630T>C, NM_001330537.2:c.630T>C, NM_001330537.1:c.630T>C, NM_001007069.2:c.567T>C, NM_001007069.1:c.567T>C, NM_001007067.2:c.570T>C, NM_001007067.1:c.570T>C, NM_001007070.2:c.567T>C, NM_001007070.1:c.567T>C, NM_001007068.2:c.552T>C, NM_001007068.1:c.552T>C, NM_001348339.2:c.393T>C, NM_001348339.1:c.393T>C, XM_047422077.1:c.627T>C

Select item 145950597613.

rs1459505976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:58578176 (GRCh38)
8:59490735 (GRCh37)
Canonical SPDI:: NC_000008.11:58578175:T:A,NC_000008.11:58578175:T:C
Gene:: SDCBP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.58578176T>A, NC_000008.11:g.58578176T>C, NC_000008.10:g.59490735T>A, NC_000008.10:g.59490735T>C, NM_005625.4:c.546T>A, NM_005625.4:c.546T>C, NM_005625.3:c.546T>A, NM_005625.3:c.546T>C, NM_001348341.2:c.609T>A, NM_001348341.2:c.609T>C, NM_001348341.1:c.609T>A, NM_001348341.1:c.609T>C, NM_001348340.2:c.606T>A, NM_001348340.2:c.606T>C, NM_001348340.1:c.606T>A, NM_001348340.1:c.606T>C, NM_001330537.2:c.606T>A, NM_001330537.2:c.606T>C, NM_001330537.1:c.606T>A, NM_001330537.1:c.606T>C, NM_001007069.2:c.543T>A, NM_001007069.2:c.543T>C, NM_001007069.1:c.543T>A, NM_001007069.1:c.543T>C, NM_001007067.2:c.546T>A, NM_001007067.2:c.546T>C, NM_001007067.1:c.546T>A, NM_001007067.1:c.546T>C, NM_001007070.2:c.543T>A, NM_001007070.2:c.543T>C, NM_001007070.1:c.543T>A, NM_001007070.1:c.543T>C, NM_001007068.2:c.528T>A, NM_001007068.2:c.528T>C, NM_001007068.1:c.528T>A, NM_001007068.1:c.528T>C, NM_001348339.2:c.369T>A, NM_001348339.2:c.369T>C, NM_001348339.1:c.369T>A, NM_001348339.1:c.369T>C, XM_047422077.1:c.603T>A, XM_047422077.1:c.603T>C, NP_005616.2:p.Phe182Leu, NP_001335270.1:p.Phe203Leu, NP_001335269.1:p.Phe202Leu, NP_001317466.1:p.Phe202Leu, NP_001007070.1:p.Phe181Leu, NP_001007068.1:p.Phe182Leu, NP_001007071.1:p.Phe181Leu, NP_001007069.1:p.Phe176Leu, NP_001335268.1:p.Phe123Leu, XP_047278033.1:p.Phe201Leu

Select item 145727530414.

rs1457275304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:58572240 (GRCh38)
8:59484799 (GRCh37)
Canonical SPDI:: NC_000008.11:58572239:T:C
Gene:: SDCBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000008.11:g.58572240T>C, NC_000008.10:g.59484799T>C, NM_005625.4:c.166T>C, NM_005625.3:c.166T>C, NM_001348341.2:c.229T>C, NM_001348341.1:c.229T>C, NM_001348340.2:c.226T>C, NM_001348340.1:c.226T>C, NM_001330537.2:c.229T>C, NM_001330537.1:c.229T>C, NM_001007069.2:c.166T>C, NM_001007069.1:c.166T>C, NM_001007067.2:c.166T>C, NM_001007067.1:c.166T>C, NM_001007070.2:c.166T>C, NM_001007070.1:c.166T>C, NM_001007068.2:c.148T>C, NM_001007068.1:c.148T>C, NM_001348339.2:c.166T>C, NM_001348339.1:c.166T>C, XM_047422077.1:c.226T>C, NP_005616.2:p.Tyr56His, NP_001335270.1:p.Tyr77His, NP_001335269.1:p.Tyr76His, NP_001317466.1:p.Tyr77His, NP_001007070.1:p.Tyr56His, NP_001007068.1:p.Tyr56His, NP_001007071.1:p.Tyr56His, NP_001007069.1:p.Tyr50His, NP_001335268.1:p.Tyr56His, XP_047278033.1:p.Tyr76His

Select item 145704526015.

rs1457045260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:58572304 (GRCh38)
8:59484863 (GRCh37)
Canonical SPDI:: NC_000008.11:58572303:C:A
Gene:: SDCBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.58572304C>A, NC_000008.10:g.59484863C>A, NM_005625.4:c.230C>A, NM_005625.3:c.230C>A, NM_001348341.2:c.293C>A, NM_001348341.1:c.293C>A, NM_001348340.2:c.290C>A, NM_001348340.1:c.290C>A, NM_001330537.2:c.293C>A, NM_001330537.1:c.293C>A, NM_001007069.2:c.230C>A, NM_001007069.1:c.230C>A, NM_001007067.2:c.230C>A, NM_001007067.1:c.230C>A, NM_001007070.2:c.230C>A, NM_001007070.1:c.230C>A, NM_001007068.2:c.212C>A, NM_001007068.1:c.212C>A, NM_001348339.2:c.230C>A, NM_001348339.1:c.230C>A, XM_047422077.1:c.290C>A, NP_005616.2:p.Pro77Gln, NP_001335270.1:p.Pro98Gln, NP_001335269.1:p.Pro97Gln, NP_001317466.1:p.Pro98Gln, NP_001007070.1:p.Pro77Gln, NP_001007068.1:p.Pro77Gln, NP_001007071.1:p.Pro77Gln, NP_001007069.1:p.Pro71Gln, NP_001335268.1:p.Pro77Gln, XP_047278033.1:p.Pro97Gln

Select item 145514242916.

rs1455142429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:58578081 (GRCh38)
8:59490640 (GRCh37)
Canonical SPDI:: NC_000008.11:58578080:G:A
Gene:: SDCBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.58578081G>A, NC_000008.10:g.59490640G>A, NM_005625.4:c.451G>A, NM_005625.3:c.451G>A, NM_001348341.2:c.514G>A, NM_001348341.1:c.514G>A, NM_001348340.2:c.511G>A, NM_001348340.1:c.511G>A, NM_001330537.2:c.511G>A, NM_001330537.1:c.511G>A, NM_001007069.2:c.448G>A, NM_001007069.1:c.448G>A, NM_001007067.2:c.451G>A, NM_001007067.1:c.451G>A, NM_001007070.2:c.448G>A, NM_001007070.1:c.448G>A, NM_001007068.2:c.433G>A, NM_001007068.1:c.433G>A, NM_001348339.2:c.274G>A, NM_001348339.1:c.274G>A, XM_047422077.1:c.508G>A, NP_005616.2:p.Gly151Ser, NP_001335270.1:p.Gly172Ser, NP_001335269.1:p.Gly171Ser, NP_001317466.1:p.Gly171Ser, NP_001007070.1:p.Gly150Ser, NP_001007068.1:p.Gly151Ser, NP_001007071.1:p.Gly150Ser, NP_001007069.1:p.Gly145Ser, NP_001335268.1:p.Gly92Ser, XP_047278033.1:p.Gly170Ser

Select item 145336581517.

rs1453365815 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:58579686 (GRCh38)
8:59492245 (GRCh37)
Canonical SPDI:: NC_000008.11:58579685:A:C
Gene:: SDCBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.58579686A>C, NC_000008.10:g.59492245A>C, NM_005625.4:c.642A>C, NM_005625.3:c.642A>C, NM_001348341.2:c.705A>C, NM_001348341.1:c.705A>C, NM_001348340.2:c.702A>C, NM_001348340.1:c.702A>C, NM_001330537.2:c.702A>C, NM_001330537.1:c.702A>C, NM_001007069.2:c.639A>C, NM_001007069.1:c.639A>C, NM_001007067.2:c.642A>C, NM_001007067.1:c.642A>C, NM_001007070.2:c.639A>C, NM_001007070.1:c.639A>C, NM_001007068.2:c.624A>C, NM_001007068.1:c.624A>C, NM_001348339.2:c.465A>C, NM_001348339.1:c.465A>C, XM_047422077.1:c.699A>C, NP_005616.2:p.Lys214Asn, NP_001335270.1:p.Lys235Asn, NP_001335269.1:p.Lys234Asn, NP_001317466.1:p.Lys234Asn, NP_001007070.1:p.Lys213Asn, NP_001007068.1:p.Lys214Asn, NP_001007071.1:p.Lys213Asn, NP_001007069.1:p.Lys208Asn, NP_001335268.1:p.Lys155Asn, XP_047278033.1:p.Lys233Asn

Select item 145302798618.

rs1453027986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:58576058 (GRCh38)
8:59488617 (GRCh37)
Canonical SPDI:: NC_000008.11:58576057:T:C
Gene:: SDCBP (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.58576058T>C, NC_000008.10:g.59488617T>C, NM_005625.4:c.399T>C, NM_005625.3:c.399T>C, NM_001348341.2:c.462T>C, NM_001348341.1:c.462T>C, NM_001348340.2:c.459T>C, NM_001348340.1:c.459T>C, NM_001330537.2:c.459T>C, NM_001330537.1:c.459T>C, NM_001007069.2:c.396T>C, NM_001007069.1:c.396T>C, NM_001007067.2:c.399T>C, NM_001007067.1:c.399T>C, NM_001007070.2:c.396T>C, NM_001007070.1:c.396T>C, NM_001007068.2:c.381T>C, NM_001007068.1:c.381T>C, XM_047422077.1:c.456T>C

Select item 144704824319.

rs1447048243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:58580565 (GRCh38)
8:59493124 (GRCh37)
Canonical SPDI:: NC_000008.11:58580564:A:G
Gene:: SDCBP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.58580565A>G, NC_000008.10:g.59493124A>G, NM_005625.4:c.799A>G, NM_005625.3:c.799A>G, NM_001348341.2:c.862A>G, NM_001348341.1:c.862A>G, NM_001348340.2:c.859A>G, NM_001348340.1:c.859A>G, NM_001330537.2:c.859A>G, NM_001330537.1:c.859A>G, NM_001007069.2:c.796A>G, NM_001007069.1:c.796A>G, NM_001007067.2:c.799A>G, NM_001007067.1:c.799A>G, NM_001007070.2:c.796A>G, NM_001007070.1:c.796A>G, NM_001007068.2:c.781A>G, NM_001007068.1:c.781A>G, NM_001348339.2:c.622A>G, NM_001348339.1:c.622A>G, XM_047422077.1:c.856A>G, NP_005616.2:p.Ile267Val, NP_001335270.1:p.Ile288Val, NP_001335269.1:p.Ile287Val, NP_001317466.1:p.Ile287Val, NP_001007070.1:p.Ile266Val, NP_001007068.1:p.Ile267Val, NP_001007071.1:p.Ile266Val, NP_001007069.1:p.Ile261Val, NP_001335268.1:p.Ile208Val, XP_047278033.1:p.Ile286Val

Select item 144683344520.

rs1446833445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:58561778 (GRCh38)
8:59474337 (GRCh37)
Canonical SPDI:: NC_000008.11:58561777:C:A
Gene:: SDCBP (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.58561778C>A, NC_000008.10:g.59474337C>A, NM_001348341.2:c.31C>A, NM_001348341.1:c.31C>A, NM_001348340.2:c.31C>A, NM_001348340.1:c.31C>A, NM_001330537.2:c.31C>A, NM_001330537.1:c.31C>A, XM_047422077.1:c.31C>A, NP_001335270.1:p.His11Asn, NP_001335269.1:p.His11Asn, NP_001317466.1:p.His11Asn, XP_047278033.1:p.His11Asn

dbSNP

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Result Filters

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Items: 1 to 20 of 287

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