SNP Links for Protein (Select 767905380) - SNP

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Links from Protein

Items: 1 to 20 of 1031

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Select item 14907322791.

rs1490732279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34868710 (GRCh38)
1:35334311 (GRCh37)
Canonical SPDI:: NC_000001.11:34868709:C:T
Gene:: DLGAP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.34868710C>T, NC_000001.10:g.35334311C>T, XM_011541880.3:c.889G>A, XM_011541880.2:c.889G>A, XM_011541880.1:c.889G>A, XM_011541879.3:c.2380G>A, XM_011541879.2:c.2380G>A, XM_011541879.1:c.2380G>A, NM_001080418.3:c.2380G>A, NM_001080418.2:c.2380G>A, NM_001080418.1:c.2380G>A, XM_047426631.1:c.2380G>A, XP_011540182.1:p.Asp297Asn, XP_011540181.1:p.Asp794Asn, NP_001073887.1:p.Asp794Asn, XP_047282587.1:p.Asp794Asn

Select item 14906060962.

rs1490606096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:34885774 (GRCh38)
1:35351375 (GRCh37)
Canonical SPDI:: NC_000001.11:34885773:C:A
Gene:: DLGAP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.34885774C>A, NC_000001.10:g.35351375C>A, XM_011541880.3:c.127G>T, XM_011541880.2:c.127G>T, XM_011541880.1:c.127G>T, XM_011541879.3:c.1618G>T, XM_011541879.2:c.1618G>T, XM_011541879.1:c.1618G>T, NM_001080418.3:c.1618G>T, NM_001080418.2:c.1618G>T, NM_001080418.1:c.1618G>T, XM_047426631.1:c.1618G>T, XP_011540182.1:p.Ala43Ser, XP_011540181.1:p.Ala540Ser, NP_001073887.1:p.Ala540Ser, XP_047282587.1:p.Ala540Ser

Select item 14894622153.

rs1489462215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34900073 (GRCh38)
1:35365674 (GRCh37)
Canonical SPDI:: NC_000001.11:34900072:C:T
Gene:: DLGAP3 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.34900073C>T, NC_000001.10:g.35365674C>T, XM_011541879.3:c.1308G>A, XM_011541879.2:c.1308G>A, XM_011541879.1:c.1308G>A, NM_001080418.3:c.1308G>A, NM_001080418.2:c.1308G>A, NM_001080418.1:c.1308G>A, XM_047426631.1:c.1308G>A

Select item 14892899224.

rs1489289922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:34904409 (GRCh38)
1:35370010 (GRCh37)
Canonical SPDI:: NC_000001.11:34904408:C:G
Gene:: DLGAP3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_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_000001.11:g.34904409C>G, NC_000001.10:g.35370010C>G, XM_011541879.3:c.975G>C, XM_011541879.2:c.975G>C, XM_011541879.1:c.975G>C, NM_001080418.3:c.975G>C, NM_001080418.2:c.975G>C, NM_001080418.1:c.975G>C, XM_047426631.1:c.975G>C, XP_011540181.1:p.Gln325His, NP_001073887.1:p.Gln325His, XP_047282587.1:p.Gln325His

Select item 14885107435.

rs1488510743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:34886249 (GRCh38)
1:35351850 (GRCh37)
Canonical SPDI:: NC_000001.11:34886248:A:C
Gene:: DLGAP3 (Varview)
Functional Consequence:: missense_variant,5_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=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.34886249A>C, NC_000001.10:g.35351850A>C, XM_011541880.3:c.-69T>G, XM_011541880.2:c.-69T>G, XM_011541880.1:c.-69T>G, XM_011541879.3:c.1423T>G, XM_011541879.2:c.1423T>G, XM_011541879.1:c.1423T>G, NM_001080418.3:c.1423T>G, NM_001080418.2:c.1423T>G, NM_001080418.1:c.1423T>G, XM_047426631.1:c.1423T>G, XP_011540181.1:p.Cys475Gly, NP_001073887.1:p.Cys475Gly, XP_047282587.1:p.Cys475Gly

Select item 14883525936.

rs1488352593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34905294 (GRCh38)
1:35370895 (GRCh37)
Canonical SPDI:: NC_000001.11:34905293:C:T
Gene:: DLGAP3 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.34905294C>T, NC_000001.10:g.35370895C>T, XM_011541879.3:c.90G>A, XM_011541879.2:c.90G>A, XM_011541879.1:c.90G>A, NM_001080418.3:c.90G>A, NM_001080418.2:c.90G>A, NM_001080418.1:c.90G>A, XM_047426631.1:c.90G>A

Select item 14882183517.

rs1488218351 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:34866216 (GRCh38)
1:35331817 (GRCh37)
Canonical SPDI:: NC_000001.11:34866215:A:G
Gene:: DLGAP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.34866216A>G, NC_000001.10:g.35331817A>G, XM_011541880.3:c.1316T>C, XM_011541880.2:c.1316T>C, XM_011541880.1:c.1316T>C, XM_011541879.3:c.2807T>C, XM_011541879.2:c.2807T>C, XM_011541879.1:c.2807T>C, NM_001080418.3:c.2807T>C, NM_001080418.2:c.2807T>C, NM_001080418.1:c.2807T>C, XM_047426631.1:c.2807T>C, XP_011540182.1:p.Val439Ala, XP_011540181.1:p.Val936Ala, NP_001073887.1:p.Val936Ala, XP_047282587.1:p.Val936Ala

Select item 14872934308.

rs1487293430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:34904599 (GRCh38)
1:35370200 (GRCh37)
Canonical SPDI:: NC_000001.11:34904598:C:A
Gene:: DLGAP3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_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_000001.11:g.34904599C>A, NC_000001.10:g.35370200C>A, XM_011541879.3:c.785G>T, XM_011541879.2:c.785G>T, XM_011541879.1:c.785G>T, NM_001080418.3:c.785G>T, NM_001080418.2:c.785G>T, NM_001080418.1:c.785G>T, XM_047426631.1:c.785G>T, XP_011540181.1:p.Ser262Ile, NP_001073887.1:p.Ser262Ile, XP_047282587.1:p.Ser262Ile

Select item 14868642429.

rs1486864242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:34905199 (GRCh38)
1:35370800 (GRCh37)
Canonical SPDI:: NC_000001.11:34905198:G:A
Gene:: DLGAP3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.34905199G>A, NC_000001.10:g.35370800G>A, XM_011541879.3:c.185C>T, XM_011541879.2:c.185C>T, XM_011541879.1:c.185C>T, NM_001080418.3:c.185C>T, NM_001080418.2:c.185C>T, NM_001080418.1:c.185C>T, XM_047426631.1:c.185C>T, XP_011540181.1:p.Pro62Leu, NP_001073887.1:p.Pro62Leu, XP_047282587.1:p.Pro62Leu

Select item 148650006010.

rs1486500060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:34904840 (GRCh38)
1:35370441 (GRCh37)
Canonical SPDI:: NC_000001.11:34904839:C:G
Gene:: DLGAP3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.34904840C>G, NC_000001.10:g.35370441C>G, XM_011541879.3:c.544G>C, XM_011541879.2:c.544G>C, XM_011541879.1:c.544G>C, NM_001080418.3:c.544G>C, NM_001080418.2:c.544G>C, NM_001080418.1:c.544G>C, XM_047426631.1:c.544G>C, XP_011540181.1:p.Ala182Pro, NP_001073887.1:p.Ala182Pro, XP_047282587.1:p.Ala182Pro

Select item 148562264911.

rs1485622649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:34904977 (GRCh38)
1:35370578 (GRCh37)
Canonical SPDI:: NC_000001.11:34904976:A:C
Gene:: DLGAP3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_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_000001.11:g.34904977A>C, NC_000001.10:g.35370578A>C, XM_011541879.3:c.407T>G, XM_011541879.2:c.407T>G, XM_011541879.1:c.407T>G, NM_001080418.3:c.407T>G, NM_001080418.2:c.407T>G, NM_001080418.1:c.407T>G, XM_047426631.1:c.407T>G, XP_011540181.1:p.Phe136Cys, NP_001073887.1:p.Phe136Cys, XP_047282587.1:p.Phe136Cys

Select item 148483667412.

rs1484836674 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:34867567 (GRCh38)
1:35333168 (GRCh37)
Canonical SPDI:: NC_000001.11:34867566:T:G
Gene:: DLGAP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.34867567T>G, NC_000001.10:g.35333168T>G, XM_011541880.3:c.1055A>C, XM_011541880.2:c.1055A>C, XM_011541880.1:c.1055A>C, XM_011541879.3:c.2546A>C, XM_011541879.2:c.2546A>C, XM_011541879.1:c.2546A>C, NM_001080418.3:c.2546A>C, NM_001080418.2:c.2546A>C, NM_001080418.1:c.2546A>C, XM_047426631.1:c.2546A>C, XP_011540182.1:p.Gln352Pro, XP_011540181.1:p.Gln849Pro, NP_001073887.1:p.Gln849Pro, XP_047282587.1:p.Gln849Pro

Select item 148449088613.

rs1484490886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:34905166 (GRCh38)
1:35370767 (GRCh37)
Canonical SPDI:: NC_000001.11:34905165:G:T
Gene:: DLGAP3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.34905166G>T, NC_000001.10:g.35370767G>T, XM_011541879.3:c.218C>A, XM_011541879.2:c.218C>A, XM_011541879.1:c.218C>A, NM_001080418.3:c.218C>A, NM_001080418.2:c.218C>A, NM_001080418.1:c.218C>A, XM_047426631.1:c.218C>A, XP_011540181.1:p.Pro73His, NP_001073887.1:p.Pro73His, XP_047282587.1:p.Pro73His

Select item 148446635914.

rs1484466359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:34866097 (GRCh38)
1:35331698 (GRCh37)
Canonical SPDI:: NC_000001.11:34866096:G:A
Gene:: DLGAP3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000001.11:g.34866097G>A, NC_000001.10:g.35331698G>A, XM_011541880.3:c.1435C>T, XM_011541880.2:c.1435C>T, XM_011541880.1:c.1435C>T, XM_011541879.3:c.2926C>T, XM_011541879.2:c.2926C>T, XM_011541879.1:c.2926C>T, NM_001080418.3:c.2926C>T, NM_001080418.2:c.2926C>T, NM_001080418.1:c.2926C>T, XM_047426631.1:c.2926C>T, XP_011540182.1:p.Gln479Ter, XP_011540181.1:p.Gln976Ter, NP_001073887.1:p.Gln976Ter, XP_047282587.1:p.Gln976Ter

Select item 148312948615.

rs1483129486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:34904458 (GRCh38)
1:35370059 (GRCh37)
Canonical SPDI:: NC_000001.11:34904457:T:C
Gene:: DLGAP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34904458T>C, NC_000001.10:g.35370059T>C, XM_011541879.3:c.926A>G, XM_011541879.2:c.926A>G, XM_011541879.1:c.926A>G, NM_001080418.3:c.926A>G, NM_001080418.2:c.926A>G, NM_001080418.1:c.926A>G, XM_047426631.1:c.926A>G, XP_011540181.1:p.Glu309Gly, NP_001073887.1:p.Glu309Gly, XP_047282587.1:p.Glu309Gly

Select item 148098282316.

rs1480982823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34868978 (GRCh38)
1:35334579 (GRCh37)
Canonical SPDI:: NC_000001.11:34868977:C:T
Gene:: DLGAP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34868978C>T, NC_000001.10:g.35334579C>T, XM_011541880.3:c.621G>A, XM_011541880.2:c.621G>A, XM_011541880.1:c.621G>A, XM_011541879.3:c.2112G>A, XM_011541879.2:c.2112G>A, XM_011541879.1:c.2112G>A, NM_001080418.3:c.2112G>A, NM_001080418.2:c.2112G>A, NM_001080418.1:c.2112G>A, XM_047426631.1:c.2112G>A

Select item 148095101417.

rs1480951014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:34868925 (GRCh38)
1:35334526 (GRCh37)
Canonical SPDI:: NC_000001.11:34868924:G:A
Gene:: DLGAP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.34868925G>A, NC_000001.10:g.35334526G>A, XM_011541880.3:c.674C>T, XM_011541880.2:c.674C>T, XM_011541880.1:c.674C>T, XM_011541879.3:c.2165C>T, XM_011541879.2:c.2165C>T, XM_011541879.1:c.2165C>T, NM_001080418.3:c.2165C>T, NM_001080418.2:c.2165C>T, NM_001080418.1:c.2165C>T, XM_047426631.1:c.2165C>T, XP_011540182.1:p.Ala225Val, XP_011540181.1:p.Ala722Val, NP_001073887.1:p.Ala722Val, XP_047282587.1:p.Ala722Val

Select item 148080962818.

rs1480809628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:34867165 (GRCh38)
1:35332766 (GRCh37)
Canonical SPDI:: NC_000001.11:34867164:G:C
Gene:: DLGAP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.34867165G>C, NC_000001.10:g.35332766G>C, XM_011541880.3:c.1113C>G, XM_011541880.2:c.1113C>G, XM_011541880.1:c.1113C>G, XM_011541879.3:c.2604C>G, XM_011541879.2:c.2604C>G, XM_011541879.1:c.2604C>G, NM_001080418.3:c.2604C>G, NM_001080418.2:c.2604C>G, NM_001080418.1:c.2604C>G, XM_047426631.1:c.2604C>G

Select item 147994164919.

rs1479941649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34886256 (GRCh38)
1:35351857 (GRCh37)
Canonical SPDI:: NC_000001.11:34886255:C:T
Gene:: DLGAP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
HGVS:: NC_000001.11:g.34886256C>T, NC_000001.10:g.35351857C>T, XM_011541880.3:c.-76G>A, XM_011541880.2:c.-76G>A, XM_011541880.1:c.-76G>A, XM_011541879.3:c.1416G>A, XM_011541879.2:c.1416G>A, XM_011541879.1:c.1416G>A, NM_001080418.3:c.1416G>A, NM_001080418.2:c.1416G>A, NM_001080418.1:c.1416G>A, XM_047426631.1:c.1416G>A

Select item 147689052120.

rs1476890521 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:34905157 (GRCh38)
1:35370758 (GRCh37)
Canonical SPDI:: NC_000001.11:34905156:C:G,NC_000001.11:34905156:C:T
Gene:: DLGAP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.34905157C>G, NC_000001.11:g.34905157C>T, NC_000001.10:g.35370758C>G, NC_000001.10:g.35370758C>T, XM_011541879.3:c.227G>C, XM_011541879.3:c.227G>A, XM_011541879.2:c.227G>C, XM_011541879.2:c.227G>A, XM_011541879.1:c.227G>C, XM_011541879.1:c.227G>A, NM_001080418.3:c.227G>C, NM_001080418.3:c.227G>A, NM_001080418.2:c.227G>C, NM_001080418.2:c.227G>A, NM_001080418.1:c.227G>C, NM_001080418.1:c.227G>A, XM_047426631.1:c.227G>C, XM_047426631.1:c.227G>A, XP_011540181.1:p.Gly76Ala, XP_011540181.1:p.Gly76Glu, NP_001073887.1:p.Gly76Ala, NP_001073887.1:p.Gly76Glu, XP_047282587.1:p.Gly76Ala, XP_047282587.1:p.Gly76Glu

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