SNP Links for Protein (Select 111160500) - SNP

Links from Protein

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Select item 14894863481.

rs1489486348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:76611514 (GRCh38)
7:76240831 (GRCh37)
Canonical SPDI:: NC_000007.14:76611513:C:T
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.76611514C>T, NC_000007.13:g.76240831C>T, NT_187561.1:g.98349C>T, NM_012230.5:c.515G>A, NM_012230.4:c.515G>A, NM_012230.3:c.515G>A, NP_036362.3:p.Arg172Lys

Select item 14870464862.

rs1487046486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:76618222 (GRCh38)
7:76247539 (GRCh37)
Canonical SPDI:: NC_000007.14:76618221:T:C,NC_000007.14:76618221:T:G
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.76618222T>C, NC_000007.14:g.76618222T>G, NC_000007.13:g.76247539T>C, NC_000007.13:g.76247539T>G, NT_187561.1:g.105057T>C, NT_187561.1:g.105057T>G, NM_012230.5:c.306A>G, NM_012230.5:c.306A>C, NM_012230.4:c.306A>G, NM_012230.4:c.306A>C, NM_012230.3:c.306A>G, NM_012230.3:c.306A>C, NM_152992.4:c.306A>G, NM_152992.4:c.306A>C, NM_152992.3:c.306A>G, NM_152992.3:c.306A>C, NM_152992.2:c.306A>G, NM_152992.2:c.306A>C

Select item 14722827983.

rs1472282798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:76618193 (GRCh38)
7:76247510 (GRCh37)
Canonical SPDI:: NC_000007.14:76618192:G:C
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.76618193G>C, NC_000007.13:g.76247510G>C, NT_187561.1:g.105028G>C, NM_012230.5:c.335C>G, NM_012230.4:c.335C>G, NM_012230.3:c.335C>G, NM_152992.4:c.335C>G, NM_152992.3:c.335C>G, NM_152992.2:c.335C>G, NP_036362.3:p.Ser112Cys, NP_694537.1:p.Ser112Cys

Select item 14710434334.

rs1471043433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:76618198 (GRCh38)
7:76247515 (GRCh37)
Canonical SPDI:: NC_000007.14:76618197:A:C
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.76618198A>C, NC_000007.13:g.76247515A>C, NT_187561.1:g.105033A>C, NM_012230.5:c.330T>G, NM_012230.4:c.330T>G, NM_012230.3:c.330T>G, NM_152992.4:c.330T>G, NM_152992.3:c.330T>G, NM_152992.2:c.330T>G, NP_036362.3:p.Asn110Lys, NP_694537.1:p.Asn110Lys

Select item 14710159925.

rs1471015992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:76625599 (GRCh38)
7:76254916 (GRCh37)
Canonical SPDI:: NC_000007.14:76625598:G:A
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.76625599G>A, NC_000007.13:g.76254916G>A, NT_187561.1:g.112434G>A, NM_012230.5:c.150C>T, NM_012230.4:c.150C>T, NM_012230.3:c.150C>T, NM_152992.4:c.150C>T, NM_152992.3:c.150C>T, NM_152992.2:c.150C>T, NM_001257190.3:c.150C>T, NM_001257190.2:c.150C>T, NM_001099415.2:c.150C>T, NM_001099415.3:c.150C>T, NM_014833.1:c.150C>T

Select item 14638365436.

rs1463836543 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:76611786 (GRCh38)
7:76241103 (GRCh37)
Canonical SPDI:: NC_000007.14:76611785:T:A
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.00003/4 (GnomAD)
HGVS:: NC_000007.14:g.76611786T>A, NC_000007.13:g.76241103T>A, NT_187561.1:g.98621T>A, NM_012230.5:c.373A>T, NM_012230.4:c.373A>T, NM_012230.3:c.373A>T, NP_036362.3:p.Thr125Ser

Select item 14589606677.

rs1458960667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:76611534 (GRCh38)
7:76240851 (GRCh37)
Canonical SPDI:: NC_000007.14:76611533:A:C
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.76611534A>C, NC_000007.13:g.76240851A>C, NT_187561.1:g.98369A>C, NM_012230.5:c.495T>G, NM_012230.4:c.495T>G, NM_012230.3:c.495T>G, NP_036362.3:p.Cys165Trp

Select item 14544838738.

rs1454483873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:76625665 (GRCh38)
7:76254982 (GRCh37)
Canonical SPDI:: NC_000007.14:76625664:G:A,NC_000007.14:76625664:G:T
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.76625665G>A, NC_000007.14:g.76625665G>T, NC_000007.13:g.76254982G>A, NC_000007.13:g.76254982G>T, NT_187561.1:g.112500G>A, NT_187561.1:g.112500G>T, NM_012230.5:c.84C>T, NM_012230.5:c.84C>A, NM_012230.4:c.84C>T, NM_012230.4:c.84C>A, NM_012230.3:c.84C>T, NM_012230.3:c.84C>A, NM_152992.4:c.84C>T, NM_152992.4:c.84C>A, NM_152992.3:c.84C>T, NM_152992.3:c.84C>A, NM_152992.2:c.84C>T, NM_152992.2:c.84C>A, NM_001257190.3:c.84C>T, NM_001257190.3:c.84C>A, NM_001257190.2:c.84C>T, NM_001257190.2:c.84C>A, NM_001099415.2:c.84C>T, NM_001099415.2:c.84C>A, NM_001099415.3:c.84C>T, NM_001099415.3:c.84C>A, NM_014833.1:c.84C>T, NM_014833.1:c.84C>A, NP_036362.3:p.Ser28Arg, NP_694537.1:p.Ser28Arg

Select item 14485439149.

rs1448543914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:76618300 (GRCh38)
7:76247617 (GRCh37)
Canonical SPDI:: NC_000007.14:76618299:G:A
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.76618300G>A, NC_000007.13:g.76247617G>A, NT_187561.1:g.105135G>A, NM_012230.5:c.228C>T, NM_012230.4:c.228C>T, NM_012230.3:c.228C>T, NM_152992.4:c.228C>T, NM_152992.3:c.228C>T, NM_152992.2:c.228C>T

Select item 142761673110.

rs1427616731 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:76625546 (GRCh38)
7:76254864 (GRCh37)
Canonical SPDI:: NC_000007.14:76625546:GG:GGG
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.76625548dup, NC_000007.13:g.76254865dup, NT_187561.1:g.112383dup, NM_012230.5:c.202dup, NM_012230.4:c.202dup, NM_012230.3:c.202dup, NM_152992.4:c.202dup, NM_152992.3:c.202dup, NM_152992.2:c.202dup, NM_001257190.3:c.202dup, NM_001257190.2:c.202dup, NM_001099415.2:c.202dup, NM_001099415.3:c.202dup, NM_014833.1:c.202dup, NP_036362.3:p.Leu68fs, NP_694537.1:p.Leu68fs

Select item 142222083511.

rs1422220835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:76611493 (GRCh38)
7:76240810 (GRCh37)
Canonical SPDI:: NC_000007.14:76611492:C:T
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.76611493C>T, NC_000007.13:g.76240810C>T, NT_187561.1:g.98328C>T, NM_012230.5:c.536G>A, NM_012230.4:c.536G>A, NM_012230.3:c.536G>A, NP_036362.3:p.Ser179Asn

Select item 141986978212.

rs1419869782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:76625524 (GRCh38)
7:76254841 (GRCh37)
Canonical SPDI:: NC_000007.14:76625523:T:C,NC_000007.14:76625523:T:G
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.76625524T>C, NC_000007.14:g.76625524T>G, NC_000007.13:g.76254841T>C, NC_000007.13:g.76254841T>G, NT_187561.1:g.112359T>C, NT_187561.1:g.112359T>G, NM_012230.5:c.225A>G, NM_012230.5:c.225A>C, NM_012230.4:c.225A>G, NM_012230.4:c.225A>C, NM_012230.3:c.225A>G, NM_012230.3:c.225A>C, NM_152992.4:c.225A>G, NM_152992.4:c.225A>C, NM_152992.3:c.225A>G, NM_152992.3:c.225A>C, NM_152992.2:c.225A>G, NM_152992.2:c.225A>C, NM_001257190.3:c.225A>G, NM_001257190.3:c.225A>C, NM_001257190.2:c.225A>G, NM_001257190.2:c.225A>C, NM_001099415.2:c.225A>G, NM_001099415.2:c.225A>C, NM_001099415.3:c.225A>G, NM_001099415.3:c.225A>C, NM_014833.1:c.225A>G, NM_014833.1:c.225A>C, NP_036362.3:p.Arg75Ser, NP_694537.1:p.Arg75Ser

Select item 141056317113.

rs1410563171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:76611579 (GRCh38)
7:76240896 (GRCh37)
Canonical SPDI:: NC_000007.14:76611578:C:T
Gene:: POMZP3 (Varview), LINC03009 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.76611579C>T, NC_000007.13:g.76240896C>T, NT_187561.1:g.98414C>T, NM_012230.5:c.450G>A, NM_012230.4:c.450G>A, NM_012230.3:c.450G>A