SNP Links for Protein (Select 767969613) - SNP

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Links from Protein

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Select item 14867173011.

rs1486717301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:95779624 (GRCh38)
11:95512788 (GRCh37)
Canonical SPDI:: NC_000011.10:95779623:C:G
Gene:: FAM76B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.95779624C>G, NC_000011.9:g.95512788C>G, XM_005273776.5:c.597G>C, XM_005273776.4:c.597G>C, XM_005273776.3:c.597G>C, XM_005273776.2:c.597G>C, XM_005273776.1:c.597G>C, NM_144664.5:c.675G>C, NM_144664.4:c.675G>C, XM_011542610.3:c.597G>C, XM_011542610.2:c.597G>C, XM_011542610.1:c.597G>C, NM_001330357.2:c.675G>C, NM_001330357.1:c.675G>C, XM_011542612.2:c.408G>C, XM_011542612.1:c.408G>C, XM_047426411.1:c.597G>C, XM_047426410.1:c.597G>C, XM_047426414.1:c.597G>C, XM_047426412.1:c.675G>C, XM_047426413.1:c.675G>C, XR_007062451.1:n.1001G>C, XP_005273833.1:p.Lys199Asn, NP_653265.3:p.Lys225Asn, XP_011540912.1:p.Lys199Asn, NP_001317286.1:p.Lys225Asn, XP_011540914.1:p.Lys136Asn, XP_047282367.1:p.Lys199Asn, XP_047282366.1:p.Lys199Asn, XP_047282370.1:p.Lys199Asn, XP_047282368.1:p.Lys225Asn, XP_047282369.1:p.Lys225Asn

Select item 14814011022.

rs1481401102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:95779628 (GRCh38)
11:95512792 (GRCh37)
Canonical SPDI:: NC_000011.10:95779627:G:C
Gene:: FAM76B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000011.10:g.95779628G>C, NC_000011.9:g.95512792G>C, XM_005273776.5:c.593C>G, XM_005273776.4:c.593C>G, XM_005273776.3:c.593C>G, XM_005273776.2:c.593C>G, XM_005273776.1:c.593C>G, NM_144664.5:c.671C>G, NM_144664.4:c.671C>G, XM_011542610.3:c.593C>G, XM_011542610.2:c.593C>G, XM_011542610.1:c.593C>G, NM_001330357.2:c.671C>G, NM_001330357.1:c.671C>G, XM_011542612.2:c.404C>G, XM_011542612.1:c.404C>G, XM_047426411.1:c.593C>G, XM_047426410.1:c.593C>G, XM_047426414.1:c.593C>G, XM_047426412.1:c.671C>G, XM_047426413.1:c.671C>G, XR_007062451.1:n.997C>G, XP_005273833.1:p.Ser198Cys, NP_653265.3:p.Ser224Cys, XP_011540912.1:p.Ser198Cys, NP_001317286.1:p.Ser224Cys, XP_011540914.1:p.Ser135Cys, XP_047282367.1:p.Ser198Cys, XP_047282366.1:p.Ser198Cys, XP_047282370.1:p.Ser198Cys, XP_047282368.1:p.Ser224Cys, XP_047282369.1:p.Ser224Cys

Select item 14740076173.

rs1474007617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:95786179 (GRCh38)
11:95519343 (GRCh37)
Canonical SPDI:: NC_000011.10:95786178:C:G
Gene:: FAM76B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.95786179C>G, NC_000011.9:g.95519343C>G, NG_029829.1:g.719C>G, XM_005273776.5:c.225G>C, XM_005273776.4:c.225G>C, XM_005273776.3:c.225G>C, XM_005273776.2:c.225G>C, XM_005273776.1:c.225G>C, NM_144664.5:c.303G>C, NM_144664.4:c.303G>C, XM_011542610.3:c.225G>C, XM_011542610.2:c.225G>C, XM_011542610.1:c.225G>C, NM_001330357.2:c.303G>C, NM_001330357.1:c.303G>C, XM_011542612.2:c.14G>C, XM_011542612.1:c.14G>C, XM_047426411.1:c.225G>C, XM_047426410.1:c.225G>C, XM_047426414.1:c.225G>C, XM_047426412.1:c.303G>C, XM_047426413.1:c.303G>C, XR_007062451.1:n.607G>C, XP_005273833.1:p.Gln75His, NP_653265.3:p.Gln101His, XP_011540912.1:p.Gln75His, NP_001317286.1:p.Gln101His, XP_011540914.1:p.Arg5Thr, XP_047282367.1:p.Gln75His, XP_047282366.1:p.Gln75His, XP_047282370.1:p.Gln75His, XP_047282368.1:p.Gln101His, XP_047282369.1:p.Gln101His

Select item 14703485874.

rs1470348587 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:95771633 (GRCh38)
11:95504797 (GRCh37)
Canonical SPDI:: NC_000011.10:95771632:T:G
Gene:: FAM76B (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.95771633T>G, NC_000011.9:g.95504797T>G, XM_005273776.5:c.870A>C, XM_005273776.4:c.870A>C, XM_005273776.3:c.870A>C, XM_005273776.2:c.870A>C, XM_005273776.1:c.870A>C, NM_144664.5:c.948A>C, NM_144664.4:c.948A>C, XM_011542610.3:c.870A>C, XM_011542610.2:c.870A>C, XM_011542610.1:c.870A>C, NM_001330357.2:c.945A>C, NM_001330357.1:c.945A>C, XM_011542612.2:c.681A>C, XM_011542612.1:c.681A>C, XM_047426411.1:c.867A>C, XM_047426410.1:c.870A>C

Select item 14691013565.

rs1469101356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:95783238 (GRCh38)
11:95516402 (GRCh37)
Canonical SPDI:: NC_000011.10:95783237:G:C
Gene:: FAM76B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_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_000011.10:g.95783238G>C, NC_000011.9:g.95516402G>C, XM_005273776.5:c.312C>G, XM_005273776.4:c.312C>G, XM_005273776.3:c.312C>G, XM_005273776.2:c.312C>G, XM_005273776.1:c.312C>G, NM_144664.5:c.390C>G, NM_144664.4:c.390C>G, XM_011542610.3:c.312C>G, XM_011542610.2:c.312C>G, XM_011542610.1:c.312C>G, NM_001330357.2:c.390C>G, NM_001330357.1:c.390C>G, XM_011542612.2:c.101C>G, XM_011542612.1:c.101C>G, XM_047426411.1:c.312C>G, XM_047426410.1:c.312C>G, XM_047426414.1:c.312C>G, XM_047426412.1:c.390C>G, XM_047426413.1:c.390C>G, XR_007062451.1:n.694C>G, XP_011540914.1:p.Ser34Cys

Select item 14689869246.

rs1468986924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:95778899 (GRCh38)
11:95512063 (GRCh37)
Canonical SPDI:: NC_000011.10:95778898:G:T
Gene:: FAM76B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.95778899G>T, NC_000011.9:g.95512063G>T, XM_005273776.5:c.673C>A, XM_005273776.4:c.673C>A, XM_005273776.3:c.673C>A, XM_005273776.2:c.673C>A, XM_005273776.1:c.673C>A, NM_144664.5:c.751C>A, NM_144664.4:c.751C>A, XM_011542610.3:c.673C>A, XM_011542610.2:c.673C>A, XM_011542610.1:c.673C>A, NM_001330357.2:c.748C>A, NM_001330357.1:c.748C>A, XM_011542612.2:c.484C>A, XM_011542612.1:c.484C>A, XM_047426411.1:c.670C>A, XM_047426410.1:c.673C>A, XM_047426414.1:c.*107C>A, XM_047426412.1:c.*107C>A, XM_047426413.1:c.*104C>A, XP_005273833.1:p.Gln225Lys, NP_653265.3:p.Gln251Lys, XP_011540912.1:p.Gln225Lys, NP_001317286.1:p.Gln250Lys, XP_011540914.1:p.Gln162Lys, XP_047282367.1:p.Gln224Lys, XP_047282366.1:p.Gln225Lys

Select item 14616534447.

rs1461653444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:95786160 (GRCh38)
11:95519324 (GRCh37)
Canonical SPDI:: NC_000011.10:95786159:G:C
Gene:: FAM76B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95786160G>C, NC_000011.9:g.95519324G>C, NG_029829.1:g.700G>C, XM_005273776.5:c.244C>G, XM_005273776.4:c.244C>G, XM_005273776.3:c.244C>G, XM_005273776.2:c.244C>G, XM_005273776.1:c.244C>G, NM_144664.5:c.322C>G, NM_144664.4:c.322C>G, XM_011542610.3:c.244C>G, XM_011542610.2:c.244C>G, XM_011542610.1:c.244C>G, NM_001330357.2:c.322C>G, NM_001330357.1:c.322C>G, XM_011542612.2:c.33C>G, XM_011542612.1:c.33C>G, XM_047426411.1:c.244C>G, XM_047426410.1:c.244C>G, XM_047426414.1:c.244C>G, XM_047426412.1:c.322C>G, XM_047426413.1:c.322C>G, XR_007062451.1:n.626C>G, XP_005273833.1:p.Gln82Glu, NP_653265.3:p.Gln108Glu, XP_011540912.1:p.Gln82Glu, NP_001317286.1:p.Gln108Glu, XP_011540914.1:p.Asn11Lys, XP_047282367.1:p.Gln82Glu, XP_047282366.1:p.Gln82Glu, XP_047282370.1:p.Gln82Glu, XP_047282368.1:p.Gln108Glu, XP_047282369.1:p.Gln108Glu

Select item 14615212318.

rs1461521231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:95778931 (GRCh38)
11:95512095 (GRCh37)
Canonical SPDI:: NC_000011.10:95778930:C:G,NC_000011.10:95778930:C:T
Gene:: FAM76B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.95778931C>G, NC_000011.10:g.95778931C>T, NC_000011.9:g.95512095C>G, NC_000011.9:g.95512095C>T, XM_005273776.5:c.641G>C, XM_005273776.5:c.641G>A, XM_005273776.4:c.641G>C, XM_005273776.4:c.641G>A, XM_005273776.3:c.641G>C, XM_005273776.3:c.641G>A, XM_005273776.2:c.641G>C, XM_005273776.2:c.641G>A, XM_005273776.1:c.641G>C, XM_005273776.1:c.641G>A, NM_144664.5:c.719G>C, NM_144664.5:c.719G>A, NM_144664.4:c.719G>C, NM_144664.4:c.719G>A, XM_011542610.3:c.641G>C, XM_011542610.3:c.641G>A, XM_011542610.2:c.641G>C, XM_011542610.2:c.641G>A, XM_011542610.1:c.641G>C, XM_011542610.1:c.641G>A, NM_001330357.2:c.716G>C, NM_001330357.2:c.716G>A, NM_001330357.1:c.716G>C, NM_001330357.1:c.716G>A, XM_011542612.2:c.452G>C, XM_011542612.2:c.452G>A, XM_011542612.1:c.452G>C, XM_011542612.1:c.452G>A, XM_047426411.1:c.638G>C, XM_047426411.1:c.638G>A, XM_047426410.1:c.641G>C, XM_047426410.1:c.641G>A, XM_047426414.1:c.*75G>C, XM_047426414.1:c.*75G>A, XM_047426412.1:c.*75G>C, XM_047426412.1:c.*75G>A, XM_047426413.1:c.*72G>C, XM_047426413.1:c.*72G>A, XR_007062451.1:n.1045G>C, XR_007062451.1:n.1045G>A, XP_005273833.1:p.Ser214Thr, XP_005273833.1:p.Ser214Asn, NP_653265.3:p.Ser240Thr, NP_653265.3:p.Ser240Asn, XP_011540912.1:p.Ser214Thr, XP_011540912.1:p.Ser214Asn, NP_001317286.1:p.Ser239Thr, NP_001317286.1:p.Ser239Asn, XP_011540914.1:p.Ser151Thr, XP_011540914.1:p.Ser151Asn, XP_047282367.1:p.Ser213Thr, XP_047282367.1:p.Ser213Asn, XP_047282366.1:p.Ser214Thr, XP_047282366.1:p.Ser214Asn

Select item 14540077619.

rs1454007761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:95779899 (GRCh38)
11:95513063 (GRCh37)
Canonical SPDI:: NC_000011.10:95779898:C:T
Gene:: FAM76B (Varview)
Functional Consequence:: non_coding_transcript_variant,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)
HGVS:: NC_000011.10:g.95779899C>T, NC_000011.9:g.95513063C>T, XM_005273776.5:c.513G>A, XM_005273776.4:c.513G>A, XM_005273776.3:c.513G>A, XM_005273776.2:c.513G>A, XM_005273776.1:c.513G>A, NM_144664.5:c.591G>A, NM_144664.4:c.591G>A, XM_011542610.3:c.513G>A, XM_011542610.2:c.513G>A, XM_011542610.1:c.513G>A, NM_001330357.2:c.591G>A, NM_001330357.1:c.591G>A, XM_011542612.2:c.324G>A, XM_011542612.1:c.324G>A, XM_047426411.1:c.513G>A, XM_047426410.1:c.513G>A, XM_047426414.1:c.513G>A, XM_047426412.1:c.591G>A, XM_047426413.1:c.591G>A, XR_007062451.1:n.917G>A

Select item 145382304010.

rs1453823040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:95783098 (GRCh38)
11:95516262 (GRCh37)
Canonical SPDI:: NC_000011.10:95783097:T:C,NC_000011.10:95783097:T:G
Gene:: FAM76B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
G=0.005459/10 (Korea1K)
HGVS:: NC_000011.10:g.95783098T>C, NC_000011.10:g.95783098T>G, NC_000011.9:g.95516262T>C, NC_000011.9:g.95516262T>G, XM_005273776.5:c.452A>G, XM_005273776.5:c.452A>C, XM_005273776.4:c.452A>G, XM_005273776.4:c.452A>C, XM_005273776.3:c.452A>G, XM_005273776.3:c.452A>C, XM_005273776.2:c.452A>G, XM_005273776.2:c.452A>C, XM_005273776.1:c.452A>G, XM_005273776.1:c.452A>C, NM_144664.5:c.530A>G, NM_144664.5:c.530A>C, NM_144664.4:c.530A>G, NM_144664.4:c.530A>C, XM_011542610.3:c.452A>G, XM_011542610.3:c.452A>C, XM_011542610.2:c.452A>G, XM_011542610.2:c.452A>C, XM_011542610.1:c.452A>G, XM_011542610.1:c.452A>C, NM_001330357.2:c.530A>G, NM_001330357.2:c.530A>C, NM_001330357.1:c.530A>G, NM_001330357.1:c.530A>C, XM_011542612.2:c.241A>G, XM_011542612.2:c.241A>C, XM_011542612.1:c.241A>G, XM_011542612.1:c.241A>C, XM_047426411.1:c.452A>G, XM_047426411.1:c.452A>C, XM_047426410.1:c.452A>G, XM_047426410.1:c.452A>C, XM_047426414.1:c.452A>G, XM_047426414.1:c.452A>C, XM_047426412.1:c.530A>G, XM_047426412.1:c.530A>C, XM_047426413.1:c.530A>G, XM_047426413.1:c.530A>C, XR_007062451.1:n.834A>G, XR_007062451.1:n.834A>C, XP_005273833.1:p.His151Arg, XP_005273833.1:p.His151Pro, NP_653265.3:p.His177Arg, NP_653265.3:p.His177Pro, XP_011540912.1:p.His151Arg, XP_011540912.1:p.His151Pro, NP_001317286.1:p.His177Arg, NP_001317286.1:p.His177Pro, XP_011540914.1:p.Thr81Ala, XP_011540914.1:p.Thr81Pro, XP_047282367.1:p.His151Arg, XP_047282367.1:p.His151Pro, XP_047282366.1:p.His151Arg, XP_047282366.1:p.His151Pro, XP_047282370.1:p.His151Arg, XP_047282370.1:p.His151Pro, XP_047282368.1:p.His177Arg, XP_047282368.1:p.His177Pro, XP_047282369.1:p.His177Arg, XP_047282369.1:p.His177Pro

Select item 145198215711.

rs1451982157 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:95779648 (GRCh38)
11:95512812 (GRCh37)
Canonical SPDI:: NC_000011.10:95779647:C:G
Gene:: FAM76B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95779648C>G, NC_000011.9:g.95512812C>G, XM_005273776.5:c.573G>C, XM_005273776.4:c.573G>C, XM_005273776.3:c.573G>C, XM_005273776.2:c.573G>C, XM_005273776.1:c.573G>C, NM_144664.5:c.651G>C, NM_144664.4:c.651G>C, XM_011542610.3:c.573G>C, XM_011542610.2:c.573G>C, XM_011542610.1:c.573G>C, NM_001330357.2:c.651G>C, NM_001330357.1:c.651G>C, XM_011542612.2:c.384G>C, XM_011542612.1:c.384G>C, XM_047426411.1:c.573G>C, XM_047426410.1:c.573G>C, XM_047426414.1:c.573G>C, XM_047426412.1:c.651G>C, XM_047426413.1:c.651G>C, XR_007062451.1:n.977G>C, XP_005273833.1:p.Lys191Asn, NP_653265.3:p.Lys217Asn, XP_011540912.1:p.Lys191Asn, NP_001317286.1:p.Lys217Asn, XP_011540914.1:p.Lys128Asn, XP_047282367.1:p.Lys191Asn, XP_047282366.1:p.Lys191Asn, XP_047282370.1:p.Lys191Asn, XP_047282368.1:p.Lys217Asn, XP_047282369.1:p.Lys217Asn

Select item 145127927412.

rs1451279274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:95775986 (GRCh38)
11:95509150 (GRCh37)
Canonical SPDI:: NC_000011.10:95775985:G:C
Gene:: FAM76B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.95775986G>C, NC_000011.9:g.95509150G>C, XM_005273776.5:c.788C>G, XM_005273776.4:c.788C>G, XM_005273776.3:c.788C>G, XM_005273776.2:c.788C>G, XM_005273776.1:c.788C>G, NM_144664.5:c.866C>G, NM_144664.4:c.866C>G, XM_011542610.3:c.788C>G, XM_011542610.2:c.788C>G, XM_011542610.1:c.788C>G, NM_001330357.2:c.863C>G, NM_001330357.1:c.863C>G, XM_011542612.2:c.599C>G, XM_011542612.1:c.599C>G, XM_047426411.1:c.785C>G, XM_047426410.1:c.788C>G, XP_005273833.1:p.Ser263Ter, NP_653265.3:p.Ser289Ter, XP_011540912.1:p.Ser263Ter, NP_001317286.1:p.Ser288Ter, XP_011540914.1:p.Ser200Ter, XP_047282367.1:p.Ser262Ter, XP_047282366.1:p.Ser263Ter

Select item 144314227813.

rs1443142278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:95779677 (GRCh38)
11:95512841 (GRCh37)
Canonical SPDI:: NC_000011.10:95779676:A:G
Gene:: FAM76B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95779677A>G, NC_000011.9:g.95512841A>G, XM_005273776.5:c.544T>C, XM_005273776.4:c.544T>C, XM_005273776.3:c.544T>C, XM_005273776.2:c.544T>C, XM_005273776.1:c.544T>C, NM_144664.5:c.622T>C, NM_144664.4:c.622T>C, XM_011542610.3:c.544T>C, XM_011542610.2:c.544T>C, XM_011542610.1:c.544T>C, NM_001330357.2:c.622T>C, NM_001330357.1:c.622T>C, XM_011542612.2:c.355T>C, XM_011542612.1:c.355T>C, XM_047426411.1:c.544T>C, XM_047426410.1:c.544T>C, XM_047426414.1:c.544T>C, XM_047426412.1:c.622T>C, XM_047426413.1:c.622T>C, XR_007062451.1:n.948T>C, XP_005273833.1:p.Ser182Pro, NP_653265.3:p.Ser208Pro, XP_011540912.1:p.Ser182Pro, NP_001317286.1:p.Ser208Pro, XP_011540914.1:p.Ser119Pro, XP_047282367.1:p.Ser182Pro, XP_047282366.1:p.Ser182Pro, XP_047282370.1:p.Ser182Pro, XP_047282368.1:p.Ser208Pro, XP_047282369.1:p.Ser208Pro

Select item 144095450514.

rs1440954505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:95778857 (GRCh38)
11:95512021 (GRCh37)
Canonical SPDI:: NC_000011.10:95778856:G:A,NC_000011.10:95778856:G:T
Gene:: FAM76B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.95778857G>A, NC_000011.10:g.95778857G>T, NC_000011.9:g.95512021G>A, NC_000011.9:g.95512021G>T, XM_005273776.5:c.715C>T, XM_005273776.5:c.715C>A, XM_005273776.4:c.715C>T, XM_005273776.4:c.715C>A, XM_005273776.3:c.715C>T, XM_005273776.3:c.715C>A, XM_005273776.2:c.715C>T, XM_005273776.2:c.715C>A, XM_005273776.1:c.715C>T, XM_005273776.1:c.715C>A, NM_144664.5:c.793C>T, NM_144664.5:c.793C>A, NM_144664.4:c.793C>T, NM_144664.4:c.793C>A, XM_011542610.3:c.715C>T, XM_011542610.3:c.715C>A, XM_011542610.2:c.715C>T, XM_011542610.2:c.715C>A, XM_011542610.1:c.715C>T, XM_011542610.1:c.715C>A, NM_001330357.2:c.790C>T, NM_001330357.2:c.790C>A, NM_001330357.1:c.790C>T, NM_001330357.1:c.790C>A, XM_011542612.2:c.526C>T, XM_011542612.2:c.526C>A, XM_011542612.1:c.526C>T, XM_011542612.1:c.526C>A, XM_047426411.1:c.712C>T, XM_047426411.1:c.712C>A, XM_047426410.1:c.715C>T, XM_047426410.1:c.715C>A, XP_005273833.1:p.Gln239Ter, XP_005273833.1:p.Gln239Lys, NP_653265.3:p.Gln265Ter, NP_653265.3:p.Gln265Lys, XP_011540912.1:p.Gln239Ter, XP_011540912.1:p.Gln239Lys, NP_001317286.1:p.Gln264Ter, NP_001317286.1:p.Gln264Lys, XP_011540914.1:p.Gln176Ter, XP_011540914.1:p.Gln176Lys, XP_047282367.1:p.Gln238Ter, XP_047282367.1:p.Gln238Lys, XP_047282366.1:p.Gln239Ter, XP_047282366.1:p.Gln239Lys

Select item 143634252415.

rs1436342524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:95776009 (GRCh38)
11:95509173 (GRCh37)
Canonical SPDI:: NC_000011.10:95776008:C:T
Gene:: FAM76B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.95776009C>T, NC_000011.9:g.95509173C>T, XM_005273776.5:c.765G>A, XM_005273776.4:c.765G>A, XM_005273776.3:c.765G>A, XM_005273776.2:c.765G>A, XM_005273776.1:c.765G>A, NM_144664.5:c.843G>A, NM_144664.4:c.843G>A, XM_011542610.3:c.765G>A, XM_011542610.2:c.765G>A, XM_011542610.1:c.765G>A, NM_001330357.2:c.840G>A, NM_001330357.1:c.840G>A, XM_011542612.2:c.576G>A, XM_011542612.1:c.576G>A, XM_047426411.1:c.762G>A, XM_047426410.1:c.765G>A

Select item 142697647116.

rs1426976471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:95783228 (GRCh38)
11:95516392 (GRCh37)
Canonical SPDI:: NC_000011.10:95783227:A:G
Gene:: FAM76B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_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_000011.10:g.95783228A>G, NC_000011.9:g.95516392A>G, XM_005273776.5:c.322T>C, XM_005273776.4:c.322T>C, XM_005273776.3:c.322T>C, XM_005273776.2:c.322T>C, XM_005273776.1:c.322T>C, NM_144664.5:c.400T>C, NM_144664.4:c.400T>C, XM_011542610.3:c.322T>C, XM_011542610.2:c.322T>C, XM_011542610.1:c.322T>C, NM_001330357.2:c.400T>C, NM_001330357.1:c.400T>C, XM_011542612.2:c.111T>C, XM_011542612.1:c.111T>C, XM_047426411.1:c.322T>C, XM_047426410.1:c.322T>C, XM_047426414.1:c.322T>C, XM_047426412.1:c.400T>C, XM_047426413.1:c.400T>C, XR_007062451.1:n.704T>C, XP_005273833.1:p.Ser108Pro, NP_653265.3:p.Ser134Pro, XP_011540912.1:p.Ser108Pro, NP_001317286.1:p.Ser134Pro, XP_047282367.1:p.Ser108Pro, XP_047282366.1:p.Ser108Pro, XP_047282370.1:p.Ser108Pro, XP_047282368.1:p.Ser134Pro, XP_047282369.1:p.Ser134Pro

Select item 142664669117.

rs1426646691 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:95778910 (GRCh38)
11:95512074 (GRCh37)
Canonical SPDI:: NC_000011.10:95778909:A:G
Gene:: FAM76B (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
HGVS:: NC_000011.10:g.95778910A>G, NC_000011.9:g.95512074A>G, XM_005273776.5:c.662T>C, XM_005273776.4:c.662T>C, XM_005273776.3:c.662T>C, XM_005273776.2:c.662T>C, XM_005273776.1:c.662T>C, NM_144664.5:c.740T>C, NM_144664.4:c.740T>C, XM_011542610.3:c.662T>C, XM_011542610.2:c.662T>C, XM_011542610.1:c.662T>C, NM_001330357.2:c.737T>C, NM_001330357.1:c.737T>C, XM_011542612.2:c.473T>C, XM_011542612.1:c.473T>C, XM_047426411.1:c.659T>C, XM_047426410.1:c.662T>C, XM_047426414.1:c.*96T>C, XM_047426412.1:c.*96T>C, XM_047426413.1:c.*93T>C, XP_005273833.1:p.Val221Ala, NP_653265.3:p.Val247Ala, XP_011540912.1:p.Val221Ala, NP_001317286.1:p.Val246Ala, XP_011540914.1:p.Val158Ala, XP_047282367.1:p.Val220Ala, XP_047282366.1:p.Val221Ala

Select item 142641193218.

rs1426411932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:95779653 (GRCh38)
11:95512817 (GRCh37)
Canonical SPDI:: NC_000011.10:95779652:G:A
Gene:: FAM76B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95779653G>A, NC_000011.9:g.95512817G>A, XM_005273776.5:c.568C>T, XM_005273776.4:c.568C>T, XM_005273776.3:c.568C>T, XM_005273776.2:c.568C>T, XM_005273776.1:c.568C>T, NM_144664.5:c.646C>T, NM_144664.4:c.646C>T, XM_011542610.3:c.568C>T, XM_011542610.2:c.568C>T, XM_011542610.1:c.568C>T, NM_001330357.2:c.646C>T, NM_001330357.1:c.646C>T, XM_011542612.2:c.379C>T, XM_011542612.1:c.379C>T, XM_047426411.1:c.568C>T, XM_047426410.1:c.568C>T, XM_047426414.1:c.568C>T, XM_047426412.1:c.646C>T, XM_047426413.1:c.646C>T, XR_007062451.1:n.972C>T, XP_005273833.1:p.Pro190Ser, NP_653265.3:p.Pro216Ser, XP_011540912.1:p.Pro190Ser, NP_001317286.1:p.Pro216Ser, XP_011540914.1:p.Pro127Ser, XP_047282367.1:p.Pro190Ser, XP_047282366.1:p.Pro190Ser, XP_047282370.1:p.Pro190Ser, XP_047282368.1:p.Pro216Ser, XP_047282369.1:p.Pro216Ser

Select item 142381026819.

rs1423810268 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:95783172 (GRCh38)
11:95516336 (GRCh37)
Canonical SPDI:: NC_000011.10:95783171:T:C
Gene:: FAM76B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.95783172T>C, NC_000011.9:g.95516336T>C, XM_005273776.5:c.378A>G, XM_005273776.4:c.378A>G, XM_005273776.3:c.378A>G, XM_005273776.2:c.378A>G, XM_005273776.1:c.378A>G, NM_144664.5:c.456A>G, NM_144664.4:c.456A>G, XM_011542610.3:c.378A>G, XM_011542610.2:c.378A>G, XM_011542610.1:c.378A>G, NM_001330357.2:c.456A>G, NM_001330357.1:c.456A>G, XM_011542612.2:c.167A>G, XM_011542612.1:c.167A>G, XM_047426411.1:c.378A>G, XM_047426410.1:c.378A>G, XM_047426414.1:c.378A>G, XM_047426412.1:c.456A>G, XM_047426413.1:c.456A>G, XR_007062451.1:n.760A>G, XP_011540914.1:p.His56Arg

Select item 141939672920.

rs1419396729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:95783104 (GRCh38)
11:95516268 (GRCh37)
Canonical SPDI:: NC_000011.10:95783103:T:C
Gene:: FAM76B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000011.10:g.95783104T>C, NC_000011.9:g.95516268T>C, XM_005273776.5:c.446A>G, XM_005273776.4:c.446A>G, XM_005273776.3:c.446A>G, XM_005273776.2:c.446A>G, XM_005273776.1:c.446A>G, NM_144664.5:c.524A>G, NM_144664.4:c.524A>G, XM_011542610.3:c.446A>G, XM_011542610.2:c.446A>G, XM_011542610.1:c.446A>G, NM_001330357.2:c.524A>G, NM_001330357.1:c.524A>G, XM_011542612.2:c.235A>G, XM_011542612.1:c.235A>G, XM_047426411.1:c.446A>G, XM_047426410.1:c.446A>G, XM_047426414.1:c.446A>G, XM_047426412.1:c.524A>G, XM_047426413.1:c.524A>G, XR_007062451.1:n.828A>G, XP_005273833.1:p.His149Arg, NP_653265.3:p.His175Arg, XP_011540912.1:p.His149Arg, NP_001317286.1:p.His175Arg, XP_011540914.1:p.Ile79Val, XP_047282367.1:p.His149Arg, XP_047282366.1:p.His149Arg, XP_047282370.1:p.His149Arg, XP_047282368.1:p.His175Arg, XP_047282369.1:p.His175Arg

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