SNP Links for Protein (Select 1034599113) - SNP

Links from Protein

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Select item 14903474081.

rs1490347408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81811244 (GRCh38)
17:79769120 (GRCh37)
Canonical SPDI:: NC_000017.11:81811243:G:A
Gene:: GCGR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.81811244G>A, NC_000017.10:g.79769120G>A, NG_016409.1:g.10071G>A, NM_000160.5:c.416G>A, NM_000160.4:c.416G>A, NM_000160.3:c.416G>A, NW_021160021.1:g.24737G>A, XM_011523539.2:c.317G>A, XM_011523539.1:c.317G>A, XM_017024446.2:c.410G>A, XM_017024446.1:c.410G>A, XM_006722277.2:c.416G>A, XM_006722277.1:c.416G>A, NP_000151.1:p.Ser139Asn, XP_011521841.1:p.Ser106Asn, XP_016879935.1:p.Ser137Asn, XP_006722340.1:p.Ser139Asn

Select item 14886101762.

rs1488610176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81811514 (GRCh38)
17:79769390 (GRCh37)
Canonical SPDI:: NC_000017.11:81811513:A:G
Gene:: GCGR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81811514A>G, NC_000017.10:g.79769390A>G, NG_016409.1:g.10341A>G, NM_000160.5:c.611A>G, NM_000160.4:c.611A>G, NM_000160.3:c.611A>G, NW_021160021.1:g.25007A>G, XM_011523539.2:c.512A>G, XM_011523539.1:c.512A>G, XM_017024446.2:c.605A>G, XM_017024446.1:c.605A>G, XM_006722277.2:c.611A>G, XM_006722277.1:c.611A>G, NP_000151.1:p.Gln204Arg, XP_011521841.1:p.Gln171Arg, XP_016879935.1:p.Gln202Arg, XP_006722340.1:p.Gln204Arg

Select item 14876952653.

rs1487695265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81811435 (GRCh38)
17:79769311 (GRCh37)
Canonical SPDI:: NC_000017.11:81811434:G:A
Gene:: GCGR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81811435G>A, NC_000017.10:g.79769311G>A, NG_016409.1:g.10262G>A, NM_000160.5:c.532G>A, NM_000160.4:c.532G>A, NM_000160.3:c.532G>A, NW_021160021.1:g.24928G>A, XM_011523539.2:c.433G>A, XM_011523539.1:c.433G>A, XM_017024446.2:c.526G>A, XM_017024446.1:c.526G>A, XM_006722277.2:c.532G>A, XM_006722277.1:c.532G>A, NP_000151.1:p.Ala178Thr, XP_011521841.1:p.Ala145Thr, XP_016879935.1:p.Ala176Thr, XP_006722340.1:p.Ala178Thr

Select item 14874558744.

rs1487455874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81813526 (GRCh38)
17:79771402 (GRCh37)
Canonical SPDI:: NC_000017.11:81813525:T:C
Gene:: GCGR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81813526T>C, NC_000017.10:g.79771402T>C, NG_016409.1:g.12353T>C, NM_000160.5:c.1271T>C, NM_000160.4:c.1271T>C, NM_000160.3:c.1271T>C, NW_021160021.1:g.27019T>C, XM_011523539.2:c.1172T>C, XM_011523539.1:c.1172T>C, XM_017024446.2:c.1265T>C, XM_017024446.1:c.1265T>C, XM_006722277.2:c.1271T>C, XM_006722277.1:c.1271T>C, NP_000151.1:p.Leu424Pro, XP_011521841.1:p.Leu391Pro, XP_016879935.1:p.Leu422Pro, XP_006722340.1:p.Leu424Pro

Select item 14869055575.

rs1486905557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81812644 (GRCh38)
17:79770520 (GRCh37)
Canonical SPDI:: NC_000017.11:81812643:A:G
Gene:: GCGR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81812644A>G, NC_000017.10:g.79770520A>G, NG_016409.1:g.11471A>G, NM_000160.5:c.1016A>G, NM_000160.4:c.1016A>G, NM_000160.3:c.1016A>G, NW_021160021.1:g.26137A>G, XM_011523539.2:c.917A>G, XM_011523539.1:c.917A>G, XM_017024446.2:c.1010A>G, XM_017024446.1:c.1010A>G, XM_006722277.2:c.1016A>G, XM_006722277.1:c.1016A>G, NP_000151.1:p.His339Arg, XP_011521841.1:p.His306Arg, XP_016879935.1:p.His337Arg, XP_006722340.1:p.His339Arg

Select item 14836299786.

rs1483629978 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCC>- [Show Flanks]
Chromosome:: 17:81813511 (GRCh38)
17:79771387 (GRCh37)
Canonical SPDI:: NC_000017.11:81813509:CGCC:C
Gene:: GCGR (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000007/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81813511_81813513del, NC_000017.10:g.79771387_79771389del, NG_016409.1:g.12338_12340del, NM_000160.5:c.1256_1258del, NM_000160.4:c.1256_1258del, NM_000160.3:c.1256_1258del, NW_021160021.1:g.27004_27006del, XM_011523539.2:c.1157_1159del, XM_011523539.1:c.1157_1159del, XM_017024446.2:c.1250_1252del, XM_017024446.1:c.1250_1252del, XM_006722277.2:c.1256_1258del, XM_006722277.1:c.1256_1258del, NP_000151.1:p.Arg419del, XP_011521841.1:p.Arg386del, XP_016879935.1:p.Arg417del, XP_006722340.1:p.Arg419del

Select item 14821079747.

rs1482107974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81811426 (GRCh38)
17:79769302 (GRCh37)
Canonical SPDI:: NC_000017.11:81811425:G:A
Gene:: GCGR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81811426G>A, NC_000017.10:g.79769302G>A, NG_016409.1:g.10253G>A, NM_000160.5:c.523G>A, NM_000160.4:c.523G>A, NM_000160.3:c.523G>A, NW_021160021.1:g.24919G>A, XM_011523539.2:c.424G>A, XM_011523539.1:c.424G>A, XM_017024446.2:c.517G>A, XM_017024446.1:c.517G>A, XM_006722277.2:c.523G>A, XM_006722277.1:c.523G>A, NP_000151.1:p.Ala175Thr, XP_011521841.1:p.Ala142Thr, XP_016879935.1:p.Ala173Thr, XP_006722340.1:p.Ala175Thr

Select item 14814443078.

rs1481444307 [Homo sapiens]

Variant type:: DEL
Alleles:: GTC>- [Show Flanks]
Chromosome:: 17:81811928 (GRCh38)
17:79769804 (GRCh37)
Canonical SPDI:: NC_000017.11:81811927:GTC:
Gene:: GCGR (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81811928_81811930del, NC_000017.10:g.79769804_79769806del, NG_016409.1:g.10755_10757del, NM_000160.5:c.860_862del, NM_000160.4:c.860_862del, NM_000160.3:c.860_862del, NW_021160021.1:g.25421_25423del, XM_011523539.2:c.761_763del, XM_011523539.1:c.761_763del, XM_017024446.2:c.854_856del, XM_017024446.1:c.854_856del, XM_006722277.2:c.860_862del, XM_006722277.1:c.860_862del, NP_000151.1:p.Cys287del, XP_011521841.1:p.Cys254del, XP_016879935.1:p.Cys285del, XP_006722340.1:p.Cys287del

Select item 14811861469.

rs1481186146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81811484 (GRCh38)
17:79769360 (GRCh37)
Canonical SPDI:: NC_000017.11:81811483:T:C
Gene:: GCGR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81811484T>C, NC_000017.10:g.79769360T>C, NG_016409.1:g.10311T>C, NM_000160.5:c.581T>C, NM_000160.4:c.581T>C, NM_000160.3:c.581T>C, NW_021160021.1:g.24977T>C, XM_011523539.2:c.482T>C, XM_011523539.1:c.482T>C, XM_017024446.2:c.575T>C, XM_017024446.1:c.575T>C, XM_006722277.2:c.581T>C, XM_006722277.1:c.581T>C, NP_000151.1:p.Ile194Thr, XP_011521841.1:p.Ile161Thr, XP_016879935.1:p.Ile192Thr, XP_006722340.1:p.Ile194Thr

Select item 148016650410.

rs1480166504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81809810 (GRCh38)
17:79767686 (GRCh37)
Canonical SPDI:: NC_000017.11:81809809:A:G
Gene:: GCGR (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81809810A>G, NC_000017.10:g.79767686A>G, NG_016409.1:g.8637A>G, NM_000160.5:c.89A>G, NM_000160.4:c.89A>G, NM_000160.3:c.89A>G, NW_021160021.1:g.23303A>G, XM_011523539.2:c.-138A>G, XM_011523539.1:c.-138A>G, XM_017024446.2:c.83A>G, XM_017024446.1:c.83A>G, XM_006722277.2:c.89A>G, XM_006722277.1:c.89A>G, NP_000151.1:p.Asp30Gly, XP_016879935.1:p.Asp28Gly, XP_006722340.1:p.Asp30Gly

Select item 147858018711.

rs1478580187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:81811251 (GRCh38)
17:79769127 (GRCh37)
Canonical SPDI:: NC_000017.11:81811250:C:A
Gene:: GCGR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81811251C>A, NC_000017.10:g.79769127C>A, NG_016409.1:g.10078C>A, NM_000160.5:c.423C>A, NM_000160.4:c.423C>A, NM_000160.3:c.423C>A, NW_021160021.1:g.24744C>A, XM_011523539.2:c.324C>A, XM_011523539.1:c.324C>A, XM_017024446.2:c.417C>A, XM_017024446.1:c.417C>A, XM_006722277.2:c.423C>A, XM_006722277.1:c.423C>A, NP_000151.1:p.Phe141Leu, XP_011521841.1:p.Phe108Leu, XP_016879935.1:p.Phe139Leu, XP_006722340.1:p.Phe141Leu

Select item 147716033212.

rs1477160332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81811098 (GRCh38)
17:79768974 (GRCh37)
Canonical SPDI:: NC_000017.11:81811097:G:A
Gene:: GCGR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000049/7 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81811098G>A, NC_000017.10:g.79768974G>A, NG_016409.1:g.9925G>A, NM_000160.5:c.360G>A, NM_000160.4:c.360G>A, NM_000160.3:c.360G>A, NW_021160021.1:g.24591G>A, XM_011523539.2:c.261G>A, XM_011523539.1:c.261G>A, XM_017024446.2:c.354G>A, XM_017024446.1:c.354G>A, XM_006722277.2:c.360G>A, XM_006722277.1:c.360G>A

Select item 147642096413.

rs1476420964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81813512 (GRCh38)
17:79771388 (GRCh37)
Canonical SPDI:: NC_000017.11:81813511:C:T
Gene:: GCGR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81813512C>T, NC_000017.10:g.79771388C>T, NG_016409.1:g.12339C>T, NM_000160.5:c.1257C>T, NM_000160.4:c.1257C>T, NM_000160.3:c.1257C>T, NW_021160021.1:g.27005C>T, XM_011523539.2:c.1158C>T, XM_011523539.1:c.1158C>T, XM_017024446.2:c.1251C>T, XM_017024446.1:c.1251C>T, XM_006722277.2:c.1257C>T, XM_006722277.1:c.1257C>T

Select item 147464174114.

rs1474641741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81812663 (GRCh38)
17:79770539 (GRCh37)
Canonical SPDI:: NC_000017.11:81812662:C:T
Gene:: GCGR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81812663C>T, NC_000017.10:g.79770539C>T, NG_016409.1:g.11490C>T, NM_000160.5:c.1035C>T, NM_000160.4:c.1035C>T, NM_000160.3:c.1035C>T, NW_021160021.1:g.26156C>T, XM_011523539.2:c.936C>T, XM_011523539.1:c.936C>T, XM_017024446.2:c.1029C>T, XM_017024446.1:c.1029C>T, XM_006722277.2:c.1035C>T, XM_006722277.1:c.1035C>T

Select item 147410058415.

rs1474100584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81812901 (GRCh38)
17:79770777 (GRCh37)
Canonical SPDI:: NC_000017.11:81812900:C:T
Gene:: GCGR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.81812901C>T, NC_000017.10:g.79770777C>T, NG_016409.1:g.11728C>T, NM_000160.5:c.1132C>T, NM_000160.4:c.1132C>T, NM_000160.3:c.1132C>T, NW_021160021.1:g.26394C>T, XM_011523539.2:c.1033C>T, XM_011523539.1:c.1033C>T, XM_017024446.2:c.1126C>T, XM_017024446.1:c.1126C>T, XM_006722277.2:c.1132C>T, XM_006722277.1:c.1132C>T, NP_000151.1:p.Arg378Cys, XP_011521841.1:p.Arg345Cys, XP_016879935.1:p.Arg376Cys, XP_006722340.1:p.Arg378Cys

Select item 147381054116.

rs1473810541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81811083 (GRCh38)
17:79768959 (GRCh37)
Canonical SPDI:: NC_000017.11:81811082:G:A
Gene:: GCGR (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81811083G>A, NC_000017.10:g.79768959G>A, NG_016409.1:g.9910G>A, NM_000160.5:c.345G>A, NM_000160.4:c.345G>A, NM_000160.3:c.345G>A, NW_021160021.1:g.24576G>A, XM_011523539.2:c.246G>A, XM_011523539.1:c.246G>A, XM_017024446.2:c.339G>A, XM_017024446.1:c.339G>A, XM_006722277.2:c.345G>A, XM_006722277.1:c.345G>A, NP_000151.1:p.Trp115Ter, XP_011521841.1:p.Trp82Ter, XP_016879935.1:p.Trp113Ter, XP_006722340.1:p.Trp115Ter

Select item 147311701317.

rs1473117013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81813477 (GRCh38)
17:79771353 (GRCh37)
Canonical SPDI:: NC_000017.11:81813476:C:T
Gene:: GCGR (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81813477C>T, NC_000017.10:g.79771353C>T, NG_016409.1:g.12304C>T, NM_000160.5:c.1222C>T, NM_000160.4:c.1222C>T, NM_000160.3:c.1222C>T, NW_021160021.1:g.26970C>T, XM_011523539.2:c.1123C>T, XM_011523539.1:c.1123C>T, XM_017024446.2:c.1216C>T, XM_017024446.1:c.1216C>T, XM_006722277.2:c.1222C>T, XM_006722277.1:c.1222C>T, NP_000151.1:p.Gln408Ter, XP_011521841.1:p.Gln375Ter, XP_016879935.1:p.Gln406Ter, XP_006722340.1:p.Gln408Ter

Select item 147296842618.

rs1472968426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81811461 (GRCh38)
17:79769337 (GRCh37)
Canonical SPDI:: NC_000017.11:81811460:G:A
Gene:: GCGR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.81811461G>A, NC_000017.10:g.79769337G>A, NG_016409.1:g.10288G>A, NM_000160.5:c.558G>A, NM_000160.4:c.558G>A, NM_000160.3:c.558G>A, NW_021160021.1:g.24954G>A, XM_011523539.2:c.459G>A, XM_011523539.1:c.459G>A, XM_017024446.2:c.552G>A, XM_017024446.1:c.552G>A, XM_006722277.2:c.558G>A, XM_006722277.1:c.558G>A

Select item 147108364719.

rs1471083647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:81812828 (GRCh38)
17:79770704 (GRCh37)
Canonical SPDI:: NC_000017.11:81812827:C:A,NC_000017.11:81812827:C:T
Gene:: GCGR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81812828C>A, NC_000017.11:g.81812828C>T, NC_000017.10:g.79770704C>A, NC_000017.10:g.79770704C>T, NG_016409.1:g.11655C>A, NG_016409.1:g.11655C>T, NM_000160.5:c.1059C>A, NM_000160.5:c.1059C>T, NM_000160.4:c.1059C>A, NM_000160.4:c.1059C>T, NM_000160.3:c.1059C>A, NM_000160.3:c.1059C>T, NW_021160021.1:g.26321C>A, NW_021160021.1:g.26321C>T, XM_011523539.2:c.960C>A, XM_011523539.2:c.960C>T, XM_011523539.1:c.960C>A, XM_011523539.1:c.960C>T, XM_017024446.2:c.1053C>A, XM_017024446.2:c.1053C>T, XM_017024446.1:c.1053C>A, XM_017024446.1:c.1053C>T, XM_006722277.2:c.1059C>A, XM_006722277.2:c.1059C>T, XM_006722277.1:c.1059C>A, XM_006722277.1:c.1059C>T

Select item 147083681220.

rs1470836812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81810835 (GRCh38)
17:79768711 (GRCh37)
Canonical SPDI:: NC_000017.11:81810834:C:T
Gene:: GCGR (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.81810835C>T, NC_000017.10:g.79768711C>T, NG_016409.1:g.9662C>T, NM_000160.5:c.174C>T, NM_000160.4:c.174C>T, NM_000160.3:c.174C>T, NW_021160021.1:g.24328C>T, XM_011523539.2:c.98C>T, XM_011523539.1:c.98C>T, XM_017024446.2:c.168C>T, XM_017024446.1:c.168C>T, XM_006722277.2:c.174C>T, XM_006722277.1:c.174C>T, XP_011521841.1:p.Ala33Val

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