SNP Links for Protein (Select 974005405) - SNP

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Links from Protein

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Select item 14898963531.

rs1489896353 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:42929642 (GRCh38)
6:42897381 (GRCh37)
Canonical SPDI:: NC_000006.12:42929642:C:CC
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.00031/2 (ALFA)
C=0.0163/175 (GoESP)
HGVS:: NC_000006.12:g.42929643dup, NC_000006.11:g.42897381dup, NM_006586.5:c.73dup, NM_006586.4:c.73dup, NM_006586.3:c.73dup, NR_134885.2:n.164dup, NR_134885.1:n.514dup, NM_001318847.2:c.73dup, NM_001318847.1:c.73dup, NM_001318848.2:c.73dup, NM_001318848.1:c.73dup, NM_001318856.2:c.-71dup, NM_001318856.1:c.-71dup, NR_134886.2:n.164dup, NR_134886.1:n.514dup, NM_001318857.2:c.73dup, NM_001318857.1:c.73dup, NR_134892.2:n.164dup, NR_134892.1:n.514dup, NR_134890.2:n.164dup, NR_134890.1:n.514dup, NM_001318858.2:c.73dup, NM_001318858.1:c.73dup, NR_134891.2:n.164dup, NR_134891.1:n.514dup, NR_134881.1:n.1642dup, NM_001318842.1:c.73dup, NR_134880.1:n.514dup, NR_134882.1:n.514dup, NM_001318845.1:c.-71dup, NR_134888.1:n.514dup, NM_183010.1:c.73dup, NP_006577.2:p.Leu25fs, NP_001305776.1:p.Leu25fs, NP_001305777.1:p.Leu25fs, NP_001305786.1:p.Leu25fs, NP_001305787.1:p.Leu25fs, NP_001305771.1:p.Leu25fs

Select item 14883202252.

rs1488320225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:42935694 (GRCh38)
6:42903432 (GRCh37)
Canonical SPDI:: NC_000006.12:42935693:T:C
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42935694T>C, NC_000006.11:g.42903432T>C, NR_134885.2:n.584T>C, NR_134885.1:n.934T>C, NM_001318847.2:c.*107T>C, NM_001318847.1:c.*107T>C, NM_001318848.2:c.396T>C, NM_001318848.1:c.396T>C, NR_134886.2:n.363T>C, NR_134886.1:n.713T>C

Select item 14873849393.

rs1487384939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:42929670 (GRCh38)
6:42897408 (GRCh37)
Canonical SPDI:: NC_000006.12:42929669:C:G
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42929670C>G, NC_000006.11:g.42897408C>G, NM_006586.5:c.100C>G, NM_006586.4:c.100C>G, NM_006586.3:c.100C>G, NR_134885.2:n.191C>G, NR_134885.1:n.541C>G, NM_001318847.2:c.100C>G, NM_001318847.1:c.100C>G, NM_001318848.2:c.100C>G, NM_001318848.1:c.100C>G, NM_001318856.2:c.-44C>G, NM_001318856.1:c.-44C>G, NR_134886.2:n.191C>G, NR_134886.1:n.541C>G, NM_001318857.2:c.100C>G, NM_001318857.1:c.100C>G, NR_134892.2:n.191C>G, NR_134892.1:n.541C>G, NR_134890.2:n.191C>G, NR_134890.1:n.541C>G, NM_001318858.2:c.100C>G, NM_001318858.1:c.100C>G, NR_134891.2:n.191C>G, NR_134891.1:n.541C>G, NR_134881.1:n.1669C>G, NM_001318842.1:c.100C>G, NR_134880.1:n.541C>G, NR_134882.1:n.541C>G, NM_001318845.1:c.-44C>G, NR_134888.1:n.541C>G, NM_183010.1:c.100C>G, NP_006577.2:p.Gln34Glu, NP_001305776.1:p.Gln34Glu, NP_001305777.1:p.Gln34Glu, NP_001305786.1:p.Gln34Glu, NP_001305787.1:p.Gln34Glu, NP_001305771.1:p.Gln34Glu

Select item 14800227244.

rs1480022724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42935709 (GRCh38)
6:42903447 (GRCh37)
Canonical SPDI:: NC_000006.12:42935708:G:A
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42935709G>A, NC_000006.11:g.42903447G>A, NR_134885.2:n.599G>A, NR_134885.1:n.949G>A, NM_001318847.2:c.*122G>A, NM_001318847.1:c.*122G>A, NM_001318848.2:c.411G>A, NM_001318848.1:c.411G>A, NR_134886.2:n.378G>A, NR_134886.1:n.728G>A

Select item 14724979105.

rs1472497910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:42929632 (GRCh38)
6:42897370 (GRCh37)
Canonical SPDI:: NC_000006.12:42929631:T:C
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42929632T>C, NC_000006.11:g.42897370T>C, NM_006586.5:c.62T>C, NM_006586.4:c.62T>C, NM_006586.3:c.62T>C, NR_134885.2:n.153T>C, NR_134885.1:n.503T>C, NM_001318847.2:c.62T>C, NM_001318847.1:c.62T>C, NM_001318848.2:c.62T>C, NM_001318848.1:c.62T>C, NM_001318856.2:c.-82T>C, NM_001318856.1:c.-82T>C, NR_134886.2:n.153T>C, NR_134886.1:n.503T>C, NM_001318857.2:c.62T>C, NM_001318857.1:c.62T>C, NR_134892.2:n.153T>C, NR_134892.1:n.503T>C, NR_134890.2:n.153T>C, NR_134890.1:n.503T>C, NM_001318858.2:c.62T>C, NM_001318858.1:c.62T>C, NR_134891.2:n.153T>C, NR_134891.1:n.503T>C, NR_134881.1:n.1631T>C, NM_001318842.1:c.62T>C, NR_134880.1:n.503T>C, NR_134882.1:n.503T>C, NM_001318845.1:c.-82T>C, NR_134888.1:n.503T>C, NM_183010.1:c.62T>C, NP_006577.2:p.Leu21Pro, NP_001305776.1:p.Leu21Pro, NP_001305777.1:p.Leu21Pro, NP_001305786.1:p.Leu21Pro, NP_001305787.1:p.Leu21Pro, NP_001305771.1:p.Leu21Pro

Select item 14690739616.

rs1469073961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:42935627 (GRCh38)
6:42903365 (GRCh37)
Canonical SPDI:: NC_000006.12:42935626:A:G
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.42935627A>G, NC_000006.11:g.42903365A>G, NM_006586.5:c.329A>G, NM_006586.4:c.329A>G, NM_006586.3:c.329A>G, NR_134885.2:n.517A>G, NR_134885.1:n.867A>G, NM_001318847.2:c.*40A>G, NM_001318847.1:c.*40A>G, NM_001318848.2:c.329A>G, NM_001318848.1:c.329A>G, NR_134886.2:n.296A>G, NR_134886.1:n.646A>G, NR_134890.2:n.296A>G, NR_134890.1:n.646A>G, NR_134881.1:n.2025A>G, NM_001318842.1:c.428A>G, NR_134880.1:n.832A>G, NR_134882.1:n.708A>G, NM_001318845.1:c.62A>G, NR_134888.1:n.646A>G, NM_183010.1:c.*40A>G, NP_006577.2:p.Tyr110Cys, NP_001305777.1:p.Tyr110Cys, NP_001305771.1:p.Tyr143Cys, NP_001305774.1:p.Tyr21Cys

Select item 14579075917.

rs1457907591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42929627 (GRCh38)
6:42897365 (GRCh37)
Canonical SPDI:: NC_000006.12:42929626:G:A
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.42929627G>A, NC_000006.11:g.42897365G>A, NM_006586.5:c.57G>A, NM_006586.4:c.57G>A, NM_006586.3:c.57G>A, NR_134885.2:n.148G>A, NR_134885.1:n.498G>A, NM_001318847.2:c.57G>A, NM_001318847.1:c.57G>A, NM_001318848.2:c.57G>A, NM_001318848.1:c.57G>A, NM_001318856.2:c.-87G>A, NM_001318856.1:c.-87G>A, NR_134886.2:n.148G>A, NR_134886.1:n.498G>A, NM_001318857.2:c.57G>A, NM_001318857.1:c.57G>A, NR_134892.2:n.148G>A, NR_134892.1:n.498G>A, NR_134890.2:n.148G>A, NR_134890.1:n.498G>A, NM_001318858.2:c.57G>A, NM_001318858.1:c.57G>A, NR_134891.2:n.148G>A, NR_134891.1:n.498G>A, NR_134881.1:n.1626G>A, NM_001318842.1:c.57G>A, NR_134880.1:n.498G>A, NR_134882.1:n.498G>A, NM_001318845.1:c.-87G>A, NR_134888.1:n.498G>A, NM_183010.1:c.57G>A

Select item 14552471598.

rs1455247159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:42929585 (GRCh38)
6:42897323 (GRCh37)
Canonical SPDI:: NC_000006.12:42929584:T:A
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000006.12:g.42929585T>A, NC_000006.11:g.42897323T>A, NM_006586.5:c.15T>A, NM_006586.4:c.15T>A, NM_006586.3:c.15T>A, NR_134885.2:n.106T>A, NR_134885.1:n.456T>A, NM_001318847.2:c.15T>A, NM_001318847.1:c.15T>A, NM_001318848.2:c.15T>A, NM_001318848.1:c.15T>A, NM_001318856.2:c.-129T>A, NM_001318856.1:c.-129T>A, NR_134886.2:n.106T>A, NR_134886.1:n.456T>A, NM_001318857.2:c.15T>A, NM_001318857.1:c.15T>A, NR_134892.2:n.106T>A, NR_134892.1:n.456T>A, NR_134890.2:n.106T>A, NR_134890.1:n.456T>A, NM_001318858.2:c.15T>A, NM_001318858.1:c.15T>A, NR_134891.2:n.106T>A, NR_134891.1:n.456T>A, NR_134881.1:n.1584T>A, NM_001318842.1:c.15T>A, NR_134880.1:n.456T>A, NR_134882.1:n.456T>A, NM_001318845.1:c.-129T>A, NR_134888.1:n.456T>A, NM_183010.1:c.15T>A

Select item 14514939799.

rs1451493979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:42935721 (GRCh38)
6:42903459 (GRCh37)
Canonical SPDI:: NC_000006.12:42935720:T:C
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42935721T>C, NC_000006.11:g.42903459T>C, NR_134885.2:n.611T>C, NR_134885.1:n.961T>C, NM_001318847.2:c.*134T>C, NM_001318847.1:c.*134T>C, NM_001318848.2:c.423T>C, NM_001318848.1:c.423T>C, NR_134886.2:n.390T>C, NR_134886.1:n.740T>C

Select item 144736351910.

rs1447363519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42935604 (GRCh38)
6:42903342 (GRCh37)
Canonical SPDI:: NC_000006.12:42935603:C:T
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42935604C>T, NC_000006.11:g.42903342C>T, NM_006586.5:c.306C>T, NM_006586.4:c.306C>T, NM_006586.3:c.306C>T, NR_134885.2:n.494C>T, NR_134885.1:n.844C>T, NM_001318847.2:c.*17C>T, NM_001318847.1:c.*17C>T, NM_001318848.2:c.306C>T, NM_001318848.1:c.306C>T, NR_134886.2:n.273C>T, NR_134886.1:n.623C>T, NR_134890.2:n.273C>T, NR_134890.1:n.623C>T, NR_134881.1:n.2002C>T, NM_001318842.1:c.405C>T, NR_134880.1:n.809C>T, NR_134882.1:n.685C>T, NM_001318845.1:c.39C>T, NR_134888.1:n.623C>T, NM_183010.1:c.*17C>T

Select item 144486757111.

rs1444867571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42934545 (GRCh38)
6:42902283 (GRCh37)
Canonical SPDI:: NC_000006.12:42934544:C:T
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42934545C>T, NC_000006.11:g.42902283C>T, NM_006586.5:c.222C>T, NM_006586.4:c.222C>T, NM_006586.3:c.222C>T, NR_134885.2:n.410C>T, NR_134885.1:n.760C>T, NM_001318847.2:c.222C>T, NM_001318847.1:c.222C>T, NM_001318848.2:c.222C>T, NM_001318848.1:c.222C>T, NR_134881.1:n.1856C>T, NM_001318842.1:c.222C>T, NR_134880.1:n.663C>T

Select item 144024719612.

rs1440247196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42929640 (GRCh38)
6:42897378 (GRCh37)
Canonical SPDI:: NC_000006.12:42929639:C:T
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
HGVS:: NC_000006.12:g.42929640C>T, NC_000006.11:g.42897378C>T, NM_006586.5:c.70C>T, NM_006586.4:c.70C>T, NM_006586.3:c.70C>T, NR_134885.2:n.161C>T, NR_134885.1:n.511C>T, NM_001318847.2:c.70C>T, NM_001318847.1:c.70C>T, NM_001318848.2:c.70C>T, NM_001318848.1:c.70C>T, NM_001318856.2:c.-74C>T, NM_001318856.1:c.-74C>T, NR_134886.2:n.161C>T, NR_134886.1:n.511C>T, NM_001318857.2:c.70C>T, NM_001318857.1:c.70C>T, NR_134892.2:n.161C>T, NR_134892.1:n.511C>T, NR_134890.2:n.161C>T, NR_134890.1:n.511C>T, NM_001318858.2:c.70C>T, NM_001318858.1:c.70C>T, NR_134891.2:n.161C>T, NR_134891.1:n.511C>T, NR_134881.1:n.1639C>T, NM_001318842.1:c.70C>T, NR_134880.1:n.511C>T, NR_134882.1:n.511C>T, NM_001318845.1:c.-74C>T, NR_134888.1:n.511C>T, NM_183010.1:c.70C>T

Select item 143834870613.

rs1438348706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:42934526 (GRCh38)
6:42902264 (GRCh37)
Canonical SPDI:: NC_000006.12:42934525:A:G
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42934526A>G, NC_000006.11:g.42902264A>G, NM_006586.5:c.203A>G, NM_006586.4:c.203A>G, NM_006586.3:c.203A>G, NR_134885.2:n.391A>G, NR_134885.1:n.741A>G, NM_001318847.2:c.203A>G, NM_001318847.1:c.203A>G, NM_001318848.2:c.203A>G, NM_001318848.1:c.203A>G, NR_134881.1:n.1837A>G, NM_001318842.1:c.203A>G, NR_134880.1:n.644A>G, NP_006577.2:p.Lys68Arg, NP_001305776.1:p.Lys68Arg, NP_001305777.1:p.Lys68Arg, NP_001305771.1:p.Lys68Arg

Select item 143164700214.

rs1431647002 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCG [Show Flanks]
Chromosome:: 6:42929644 (GRCh38)
6:42897383 (GRCh37)
Canonical SPDI:: NC_000006.12:42929644:GCCG:GCCGCCG
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GCCGCCG=0./0 (ALFA)
GCC=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.42929646_42929648dup, NC_000006.11:g.42897384_42897386dup, NM_006586.5:c.76_78dup, NM_006586.4:c.76_78dup, NM_006586.3:c.76_78dup, NR_134885.2:n.167_169dup, NR_134885.1:n.517_519dup, NM_001318847.2:c.76_78dup, NM_001318847.1:c.76_78dup, NM_001318848.2:c.76_78dup, NM_001318848.1:c.76_78dup, NM_001318856.2:c.-68_-66dup, NM_001318856.1:c.-68_-66dup, NR_134886.2:n.167_169dup, NR_134886.1:n.517_519dup, NM_001318857.2:c.76_78dup, NM_001318857.1:c.76_78dup, NR_134892.2:n.167_169dup, NR_134892.1:n.517_519dup, NR_134890.2:n.167_169dup, NR_134890.1:n.517_519dup, NM_001318858.2:c.76_78dup, NM_001318858.1:c.76_78dup, NR_134891.2:n.167_169dup, NR_134891.1:n.517_519dup, NR_134881.1:n.1645_1647dup, NM_001318842.1:c.76_78dup, NR_134880.1:n.517_519dup, NR_134882.1:n.517_519dup, NM_001318845.1:c.-68_-66dup, NR_134888.1:n.517_519dup, NM_183010.1:c.76_78dup, NP_006577.2:p.Pro26dup, NP_001305776.1:p.Pro26dup, NP_001305777.1:p.Pro26dup, NP_001305786.1:p.Pro26dup, NP_001305787.1:p.Pro26dup, NP_001305771.1:p.Pro26dup

Select item 143096577815.

rs1430965778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:42929575 (GRCh38)
6:42897313 (GRCh37)
Canonical SPDI:: NC_000006.12:42929574:A:T
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000016/3 (GnomAD_exomes)
T=0.000319/5 (TOMMO)
T=0.001111/2 (Korea1K)
HGVS:: NC_000006.12:g.42929575A>T, NC_000006.11:g.42897313A>T, NM_006586.5:c.5A>T, NM_006586.4:c.5A>T, NM_006586.3:c.5A>T, NR_134885.2:n.96A>T, NR_134885.1:n.446A>T, NM_001318847.2:c.5A>T, NM_001318847.1:c.5A>T, NM_001318848.2:c.5A>T, NM_001318848.1:c.5A>T, NM_001318856.2:c.-139A>T, NM_001318856.1:c.-139A>T, NR_134886.2:n.96A>T, NR_134886.1:n.446A>T, NM_001318857.2:c.5A>T, NM_001318857.1:c.5A>T, NR_134892.2:n.96A>T, NR_134892.1:n.446A>T, NR_134890.2:n.96A>T, NR_134890.1:n.446A>T, NM_001318858.2:c.5A>T, NM_001318858.1:c.5A>T, NR_134891.2:n.96A>T, NR_134891.1:n.446A>T, NR_134881.1:n.1574A>T, NM_001318842.1:c.5A>T, NR_134880.1:n.446A>T, NR_134882.1:n.446A>T, NM_001318845.1:c.-139A>T, NR_134888.1:n.446A>T, NM_183010.1:c.5A>T, NP_006577.2:p.Asp2Val, NP_001305776.1:p.Asp2Val, NP_001305777.1:p.Asp2Val, NP_001305786.1:p.Asp2Val, NP_001305787.1:p.Asp2Val, NP_001305771.1:p.Asp2Val

Select item 143009618416.

rs1430096184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:42935581 (GRCh38)
6:42903319 (GRCh37)
Canonical SPDI:: NC_000006.12:42935580:C:G,NC_000006.12:42935580:C:T
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42935581C>G, NC_000006.12:g.42935581C>T, NC_000006.11:g.42903319C>G, NC_000006.11:g.42903319C>T, NM_006586.5:c.283C>G, NM_006586.5:c.283C>T, NM_006586.4:c.283C>G, NM_006586.4:c.283C>T, NM_006586.3:c.283C>G, NM_006586.3:c.283C>T, NR_134885.2:n.471C>G, NR_134885.2:n.471C>T, NR_134885.1:n.821C>G, NR_134885.1:n.821C>T, NM_001318847.2:c.345C>G, NM_001318847.2:c.345C>T, NM_001318847.1:c.345C>G, NM_001318847.1:c.345C>T, NM_001318848.2:c.283C>G, NM_001318848.2:c.283C>T, NM_001318848.1:c.283C>G, NM_001318848.1:c.283C>T, NR_134886.2:n.250C>G, NR_134886.2:n.250C>T, NR_134886.1:n.600C>G, NR_134886.1:n.600C>T, NR_134890.2:n.250C>G, NR_134890.2:n.250C>T, NR_134890.1:n.600C>G, NR_134890.1:n.600C>T, NR_134881.1:n.1979C>G, NR_134881.1:n.1979C>T, NM_001318842.1:c.382C>G, NM_001318842.1:c.382C>T, NR_134880.1:n.786C>G, NR_134880.1:n.786C>T, NR_134882.1:n.662C>G, NR_134882.1:n.662C>T, NM_001318845.1:c.16C>G, NM_001318845.1:c.16C>T, NR_134888.1:n.600C>G, NR_134888.1:n.600C>T, NM_183010.1:c.159C>G, NM_183010.1:c.159C>T, NP_006577.2:p.Arg95Gly, NP_006577.2:p.Arg95Trp, NP_001305776.1:p.Cys115Trp, NP_001305777.1:p.Arg95Gly, NP_001305777.1:p.Arg95Trp, NP_001305771.1:p.Arg128Gly, NP_001305771.1:p.Arg128Trp, NP_001305774.1:p.Arg6Gly, NP_001305774.1:p.Arg6Trp

Select item 142489060417.

rs1424890604 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 6:42929614 (GRCh38)
6:42897352 (GRCh37)
Canonical SPDI:: NC_000006.12:42929609:CTTCTTC:CTTC
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42929611TTC[1], NC_000006.11:g.42897349TTC[1], NM_006586.5:c.41TTC[1], NM_006586.4:c.41TTC[1], NM_006586.3:c.41TTC[1], NR_134885.2:n.132TTC[1], NR_134885.1:n.482TTC[1], NM_001318847.2:c.41TTC[1], NM_001318847.1:c.41TTC[1], NM_001318848.2:c.41TTC[1], NM_001318848.1:c.41TTC[1], NM_001318856.2:c.-103TTC[1], NM_001318856.1:c.-103TTC[1], NR_134886.2:n.132TTC[1], NR_134886.1:n.482TTC[1], NM_001318857.2:c.41TTC[1], NM_001318857.1:c.41TTC[1], NR_134892.2:n.132TTC[1], NR_134892.1:n.482TTC[1], NR_134890.2:n.132TTC[1], NR_134890.1:n.482TTC[1], NM_001318858.2:c.41TTC[1], NM_001318858.1:c.41TTC[1], NR_134891.2:n.132TTC[1], NR_134891.1:n.482TTC[1], NR_134881.1:n.1610TTC[1], NM_001318842.1:c.41TTC[1], NR_134880.1:n.482TTC[1], NR_134882.1:n.482TTC[1], NM_001318845.1:c.-103TTC[1], NR_134888.1:n.482TTC[1], NM_183010.1:c.41TTC[1], NP_006577.2:p.Leu15del, NP_001305776.1:p.Leu15del, NP_001305777.1:p.Leu15del, NP_001305786.1:p.Leu15del, NP_001305787.1:p.Leu15del, NP_001305771.1:p.Leu15del

Select item 142416215218.

rs1424162152 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGCTGCTGCTGCCG [Show Flanks]
Chromosome:: 6:42929632 (GRCh38)
6:42897371 (GRCh37)
Canonical SPDI:: NC_000006.12:42929632:GCTGCTGCTGCTGCCG:GCTGCTGCTGCTGCCGCTGCTGCTGCTGCCG
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: GCTGCTGCTGCTGCCGCTGCTGCTGCTGCCG=0.000048/1 (ALFA)
GCTGCTGCTGCTGCC=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42929634_42929648dup, NC_000006.11:g.42897372_42897386dup, NM_006586.5:c.64_78dup, NM_006586.4:c.64_78dup, NM_006586.3:c.64_78dup, NR_134885.2:n.155_169dup, NR_134885.1:n.505_519dup, NM_001318847.2:c.64_78dup, NM_001318847.1:c.64_78dup, NM_001318848.2:c.64_78dup, NM_001318848.1:c.64_78dup, NM_001318856.2:c.-80_-66dup, NM_001318856.1:c.-80_-66dup, NR_134886.2:n.155_169dup, NR_134886.1:n.505_519dup, NM_001318857.2:c.64_78dup, NM_001318857.1:c.64_78dup, NR_134892.2:n.155_169dup, NR_134892.1:n.505_519dup, NR_134890.2:n.155_169dup, NR_134890.1:n.505_519dup, NM_001318858.2:c.64_78dup, NM_001318858.1:c.64_78dup, NR_134891.2:n.155_169dup, NR_134891.1:n.505_519dup, NR_134881.1:n.1633_1647dup, NM_001318842.1:c.64_78dup, NR_134880.1:n.505_519dup, NR_134882.1:n.505_519dup, NM_001318845.1:c.-80_-66dup, NR_134888.1:n.505_519dup, NM_183010.1:c.64_78dup, NP_006577.2:p.Leu22_Pro26dup, NP_001305776.1:p.Leu22_Pro26dup, NP_001305777.1:p.Leu22_Pro26dup, NP_001305786.1:p.Leu22_Pro26dup, NP_001305787.1:p.Leu22_Pro26dup, NP_001305771.1:p.Leu22_Pro26dup

Select item 140643152719.

rs1406431527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42934489 (GRCh38)
6:42902227 (GRCh37)
Canonical SPDI:: NC_000006.12:42934488:G:A
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42934489G>A, NC_000006.11:g.42902227G>A, NM_006586.5:c.166G>A, NM_006586.4:c.166G>A, NM_006586.3:c.166G>A, NR_134885.2:n.354G>A, NR_134885.1:n.704G>A, NM_001318847.2:c.166G>A, NM_001318847.1:c.166G>A, NM_001318848.2:c.166G>A, NM_001318848.1:c.166G>A, NR_134881.1:n.1800G>A, NM_001318842.1:c.166G>A, NR_134880.1:n.607G>A, NP_006577.2:p.Ala56Thr, NP_001305776.1:p.Ala56Thr, NP_001305777.1:p.Ala56Thr, NP_001305771.1:p.Ala56Thr

Select item 140437512620.

rs1404375126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:42929594 (GRCh38)
6:42897332 (GRCh37)
Canonical SPDI:: NC_000006.12:42929593:G:T
Gene:: CNPY3 (Varview), CNPY3-GNMT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.42929594G>T, NC_000006.11:g.42897332G>T, NM_006586.5:c.24G>T, NM_006586.4:c.24G>T, NM_006586.3:c.24G>T, NR_134885.2:n.115G>T, NR_134885.1:n.465G>T, NM_001318847.2:c.24G>T, NM_001318847.1:c.24G>T, NM_001318848.2:c.24G>T, NM_001318848.1:c.24G>T, NM_001318856.2:c.-120G>T, NM_001318856.1:c.-120G>T, NR_134886.2:n.115G>T, NR_134886.1:n.465G>T, NM_001318857.2:c.24G>T, NM_001318857.1:c.24G>T, NR_134892.2:n.115G>T, NR_134892.1:n.465G>T, NR_134890.2:n.115G>T, NR_134890.1:n.465G>T, NM_001318858.2:c.24G>T, NM_001318858.1:c.24G>T, NR_134891.2:n.115G>T, NR_134891.1:n.465G>T, NR_134881.1:n.1593G>T, NM_001318842.1:c.24G>T, NR_134880.1:n.465G>T, NR_134882.1:n.465G>T, NM_001318845.1:c.-120G>T, NR_134888.1:n.465G>T, NM_183010.1:c.24G>T

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