SNP Links for Protein (Select 48717236) - SNP

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Links from Protein

Items: 1 to 20 of 376

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Select item 14890656531.

rs1489065653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144129822 (GRCh38)
7:143826915 (GRCh37)
Canonical SPDI:: NC_000007.14:144129821:T:C
Gene:: OR2A14 (Varview)
Functional Consequence:: missense_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_000007.14:g.144129822T>C, NC_000007.13:g.143826915T>C, NW_018654715.1:g.84377T>C, NM_001001659.3:c.710T>C, NM_001001659.2:c.710T>C, NM_001001659.1:c.710T>C, NP_001001659.1:p.Phe237Ser

Select item 14877510302.

rs1487751030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144129996 (GRCh38)
7:143827089 (GRCh37)
Canonical SPDI:: NC_000007.14:144129995:A:G
Gene:: OR2A14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.144129996A>G, NC_000007.13:g.143827089A>G, NW_018654715.1:g.84551A>G, NM_001001659.3:c.884A>G, NM_001001659.2:c.884A>G, NM_001001659.1:c.884A>G, NP_001001659.1:p.Glu295Gly

Select item 14813608803.

rs1481360880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:144129667 (GRCh38)
7:143826760 (GRCh37)
Canonical SPDI:: NC_000007.14:144129666:G:T
Gene:: OR2A14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144129667G>T, NC_000007.13:g.143826760G>T, NW_018654715.1:g.84222G>T, NM_001001659.3:c.555G>T, NM_001001659.2:c.555G>T, NM_001001659.1:c.555G>T, NP_001001659.1:p.Lys185Asn

Select item 14811949784.

rs1481194978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:144130024 (GRCh38)
7:143827117 (GRCh37)
Canonical SPDI:: NC_000007.14:144130023:G:A,NC_000007.14:144130023:G:C
Gene:: OR2A14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.144130024G>A, NC_000007.14:g.144130024G>C, NC_000007.13:g.143827117G>A, NC_000007.13:g.143827117G>C, NW_018654715.1:g.84579G>A, NW_018654715.1:g.84579G>C, NM_001001659.3:c.912G>A, NM_001001659.3:c.912G>C, NM_001001659.2:c.912G>A, NM_001001659.2:c.912G>C, NM_001001659.1:c.912G>A, NM_001001659.1:c.912G>C

Select item 14810691475.

rs1481069147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:144129872 (GRCh38)
7:143826965 (GRCh37)
Canonical SPDI:: NC_000007.14:144129871:G:A
Gene:: OR2A14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.144129872G>A, NC_000007.13:g.143826965G>A, NW_018654715.1:g.84427G>A, NM_001001659.3:c.760G>A, NM_001001659.2:c.760G>A, NM_001001659.1:c.760G>A, NP_001001659.1:p.Ala254Thr

Select item 14784727846.

rs1478472784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144129589 (GRCh38)
7:143826682 (GRCh37)
Canonical SPDI:: NC_000007.14:144129588:A:G
Gene:: OR2A14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.144129589A>G, NC_000007.13:g.143826682A>G, NW_018654715.1:g.84147A>G, NM_001001659.3:c.477A>G, NM_001001659.2:c.477A>G, NM_001001659.1:c.477A>G

Select item 14771874927.

rs1477187492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144129492 (GRCh38)
7:143826585 (GRCh37)
Canonical SPDI:: NC_000007.14:144129491:A:G
Gene:: OR2A14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.144129492A>G, NC_000007.13:g.143826585A>G, NW_018654715.1:g.84050A>G, NM_001001659.3:c.380A>G, NM_001001659.2:c.380A>G, NM_001001659.1:c.380A>G, NP_001001659.1:p.His127Arg

Select item 14757439238.

rs1475743923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144129533 (GRCh38)
7:143826626 (GRCh37)
Canonical SPDI:: NC_000007.14:144129532:A:G
Gene:: OR2A14 (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)
HGVS:: NC_000007.14:g.144129533A>G, NC_000007.13:g.143826626A>G, NW_018654715.1:g.84091A>G, NM_001001659.3:c.421A>G, NM_001001659.2:c.421A>G, NM_001001659.1:c.421A>G, NP_001001659.1:p.Thr141Ala

Select item 14754337279.

rs1475433727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:144130011 (GRCh38)
7:143827104 (GRCh37)
Canonical SPDI:: NC_000007.14:144130010:T:A
Gene:: OR2A14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/2 (ALFA)
HGVS:: NC_000007.14:g.144130011T>A, NC_000007.13:g.143827104T>A, NW_018654715.1:g.84566T>A, NM_001001659.3:c.899T>A, NM_001001659.2:c.899T>A, NM_001001659.1:c.899T>A, NP_001001659.1:p.Leu300Gln

Select item 147133250810.

rs1471332508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:144129551 (GRCh38)
7:143826644 (GRCh37)
Canonical SPDI:: NC_000007.14:144129550:T:C,NC_000007.14:144129550:T:G
Gene:: OR2A14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144129551T>C, NC_000007.14:g.144129551T>G, NC_000007.13:g.143826644T>C, NC_000007.13:g.143826644T>G, NW_018654715.1:g.84109T>C, NW_018654715.1:g.84109T>G, NM_001001659.3:c.439T>C, NM_001001659.3:c.439T>G, NM_001001659.2:c.439T>C, NM_001001659.2:c.439T>G, NM_001001659.1:c.439T>C, NM_001001659.1:c.439T>G, NP_001001659.1:p.Ser147Pro, NP_001001659.1:p.Ser147Ala

Select item 146980188811.

rs1469801888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:144129330 (GRCh38)
7:143826423 (GRCh37)
Canonical SPDI:: NC_000007.14:144129329:C:A
Gene:: OR2A14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144129330C>A, NC_000007.13:g.143826423C>A, NW_018654715.1:g.83888C>A, NM_001001659.3:c.218C>A, NM_001001659.2:c.218C>A, NM_001001659.1:c.218C>A, NP_001001659.1:p.Ala73Asp

Select item 146787844312.

rs1467878443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144129495 (GRCh38)
7:143826588 (GRCh37)
Canonical SPDI:: NC_000007.14:144129494:C:T
Gene:: OR2A14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144129495C>T, NC_000007.13:g.143826588C>T, NW_018654715.1:g.84053C>T, NM_001001659.3:c.383C>T, NM_001001659.2:c.383C>T, NM_001001659.1:c.383C>T, NP_001001659.1:p.Pro128Leu

Select item 146245403113.

rs1462454031 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTTGCTCACGTAGAGTGTCTG>- [Show Flanks]
Chromosome:: 7:144129426 (GRCh38)
7:143826519 (GRCh37)
Canonical SPDI:: NC_000007.14:144129424:GCTTTTGCTCACGTAGAGTGTCTG:G
Gene:: OR2A14 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.144129426_144129448del, NC_000007.13:g.143826519_143826541del, NW_018654715.1:g.83984_84006del, NM_001001659.3:c.314_336del, NM_001001659.2:c.314_336del, NM_001001659.1:c.314_336del, NP_001001659.1:p.Ala105fs

Select item 146188436514.

rs1461884365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144129907 (GRCh38)
7:143827000 (GRCh37)
Canonical SPDI:: NC_000007.14:144129906:T:C
Gene:: OR2A14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144129907T>C, NC_000007.13:g.143827000T>C, NW_018654715.1:g.84462T>C, NM_001001659.3:c.795T>C, NM_001001659.2:c.795T>C, NM_001001659.1:c.795T>C

Select item 145991026115.

rs1459910261 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:144129370 (GRCh38)
7:143826463 (GRCh37)
Canonical SPDI:: NC_000007.14:144129369:CC:C
Gene:: OR2A14 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144129371del, NC_000007.13:g.143826464del, NW_018654715.1:g.83929del, NM_001001659.3:c.259del, NM_001001659.2:c.259del, NM_001001659.1:c.259del, NP_001001659.1:p.Gln87fs

Select item 145741402316.

rs1457414023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:144129410 (GRCh38)
7:143826503 (GRCh37)
Canonical SPDI:: NC_000007.14:144129409:A:T
Gene:: OR2A14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144129410A>T, NC_000007.13:g.143826503A>T, NW_018654715.1:g.83968A>T, NM_001001659.3:c.298A>T, NM_001001659.2:c.298A>T, NM_001001659.1:c.298A>T, NP_001001659.1:p.Thr100Ser

Select item 145623894617.

rs1456238946 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:144129940 (GRCh38)
7:143827033 (GRCh37)
Canonical SPDI:: NC_000007.14:144129937:TTTT:TT
Gene:: OR2A14 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144129940_144129941del, NC_000007.13:g.143827033_143827034del, NW_018654715.1:g.84495_84496del, NM_001001659.3:c.828_829del, NM_001001659.2:c.828_829del, NM_001001659.1:c.828_829del, NP_001001659.1:p.Phe276fs

Select item 145469903518.

rs1454699035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144130002 (GRCh38)
7:143827095 (GRCh37)
Canonical SPDI:: NC_000007.14:144130001:A:G
Gene:: OR2A14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.144130002A>G, NC_000007.13:g.143827095A>G, NW_018654715.1:g.84557A>G, NM_001001659.3:c.890A>G, NM_001001659.2:c.890A>G, NM_001001659.1:c.890A>G, NP_001001659.1:p.Lys297Arg

Select item 144645464819.

rs1446454648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144129977 (GRCh38)
7:143827070 (GRCh37)
Canonical SPDI:: NC_000007.14:144129976:T:C
Gene:: OR2A14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.144129977T>C, NC_000007.13:g.143827070T>C, NW_018654715.1:g.84532T>C, NM_001001659.3:c.865T>C, NM_001001659.2:c.865T>C, NM_001001659.1:c.865T>C, NP_001001659.1:p.Tyr289His

Select item 144623506720.

rs1446235067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144129340 (GRCh38)
7:143826433 (GRCh37)
Canonical SPDI:: NC_000007.14:144129339:T:C
Gene:: OR2A14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144129340T>C, NC_000007.13:g.143826433T>C, NW_018654715.1:g.83898T>C, NM_001001659.3:c.228T>C, NM_001001659.2:c.228T>C, NM_001001659.1:c.228T>C

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