SNP Links for Protein (Select 53933268) - SNP

Links from Protein

Items: 1 to 20 of 325

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Select item 14903011151.

rs1490301115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:55247334 (GRCh38)
12:55641118 (GRCh37)
Canonical SPDI:: NC_000012.12:55247333:C:G
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.55247334C>G, NC_000012.11:g.55641118C>G, NM_001005490.2:c.47C>G, NM_001005490.1:c.47C>G, NP_001005490.1:p.Thr16Arg

Select item 14902336132.

rs1490233613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55247623 (GRCh38)
12:55641407 (GRCh37)
Canonical SPDI:: NC_000012.12:55247622:T:C
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.55247623T>C, NC_000012.11:g.55641407T>C, NM_001005490.2:c.336T>C, NM_001005490.1:c.336T>C

Select item 14899497513.

rs1489949751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55247443 (GRCh38)
12:55641227 (GRCh37)
Canonical SPDI:: NC_000012.12:55247442:T:C
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.55247443T>C, NC_000012.11:g.55641227T>C, NM_001005490.2:c.156T>C, NM_001005490.1:c.156T>C

Select item 14842949284.

rs1484294928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:55247452 (GRCh38)
12:55641236 (GRCh37)
Canonical SPDI:: NC_000012.12:55247451:A:C
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55247452A>C, NC_000012.11:g.55641236A>C, NM_001005490.2:c.165A>C, NM_001005490.1:c.165A>C

Select item 14726452315.

rs1472645231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:55247642 (GRCh38)
12:55641426 (GRCh37)
Canonical SPDI:: NC_000012.12:55247641:G:A
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55247642G>A, NC_000012.11:g.55641426G>A, NM_001005490.2:c.355G>A, NM_001005490.1:c.355G>A, NP_001005490.1:p.Glu119Lys

Select item 14725923946.

rs1472592394 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:55247698 (GRCh38)
12:55641482 (GRCh37)
Canonical SPDI:: NC_000012.12:55247695:AGAG:AG
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55247696AG[1], NC_000012.11:g.55641480AG[1], NM_001005490.2:c.411_412del, NM_001005490.1:c.411_412del, NP_001005490.1:p.Arg137fs

Select item 14716184847.

rs1471618484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:55247345 (GRCh38)
12:55641129 (GRCh37)
Canonical SPDI:: NC_000012.12:55247344:C:T
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55247345C>T, NC_000012.11:g.55641129C>T, NM_001005490.2:c.58C>T, NM_001005490.1:c.58C>T, NP_001005490.1:p.Gln20Ter

Select item 14712252948.

rs1471225294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:55248191 (GRCh38)
12:55641975 (GRCh37)
Canonical SPDI:: NC_000012.12:55248190:A:G
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55248191A>G, NC_000012.11:g.55641975A>G, NM_001005490.2:c.904A>G, NM_001005490.1:c.904A>G, NP_001005490.1:p.Thr302Ala

Select item 14700516159.

rs1470051615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:55247711 (GRCh38)
12:55641495 (GRCh37)
Canonical SPDI:: NC_000012.12:55247710:C:G
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.55247711C>G, NC_000012.11:g.55641495C>G, NM_001005490.2:c.424C>G, NM_001005490.1:c.424C>G, NP_001005490.1:p.Leu142Val

Select item 146872181410.

rs1468721814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:55247607 (GRCh38)
12:55641391 (GRCh37)
Canonical SPDI:: NC_000012.12:55247606:C:A
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.55247607C>A, NC_000012.11:g.55641391C>A, NM_001005490.2:c.320C>A, NM_001005490.1:c.320C>A, NP_001005490.1:p.Ala107Glu

Select item 146813515211.

rs1468135152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:55247903 (GRCh38)
12:55641687 (GRCh37)
Canonical SPDI:: NC_000012.12:55247902:C:G
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55247903C>G, NC_000012.11:g.55641687C>G, NM_001005490.2:c.616C>G, NM_001005490.1:c.616C>G, NP_001005490.1:p.Leu206Val

Select item 146680046612.

rs1466800466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:55247888 (GRCh38)
12:55641672 (GRCh37)
Canonical SPDI:: NC_000012.12:55247887:G:A
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55247888G>A, NC_000012.11:g.55641672G>A, NM_001005490.2:c.601G>A, NM_001005490.1:c.601G>A, NP_001005490.1:p.Ala201Thr

Select item 146275447613.

rs1462754476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55247418 (GRCh38)
12:55641202 (GRCh37)
Canonical SPDI:: NC_000012.12:55247417:T:C
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.55247418T>C, NC_000012.11:g.55641202T>C, NM_001005490.2:c.131T>C, NM_001005490.1:c.131T>C, NP_001005490.1:p.Ile44Thr

Select item 146036192214.

rs1460361922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:55247861 (GRCh38)
12:55641645 (GRCh37)
Canonical SPDI:: NC_000012.12:55247860:A:G
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55247861A>G, NC_000012.11:g.55641645A>G, NM_001005490.2:c.574A>G, NM_001005490.1:c.574A>G, NP_001005490.1:p.Ile192Val

Select item 145362378615.

rs1453623786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:55248202 (GRCh38)
12:55641986 (GRCh37)
Canonical SPDI:: NC_000012.12:55248201:G:T
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.55248202G>T, NC_000012.11:g.55641986G>T, NM_001005490.2:c.915G>T, NM_001005490.1:c.915G>T, NP_001005490.1:p.Lys305Asn

Select item 144836313916.

rs1448363139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:55247910 (GRCh38)
12:55641694 (GRCh37)
Canonical SPDI:: NC_000012.12:55247909:C:A,NC_000012.12:55247909:C:T
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.55247910C>A, NC_000012.12:g.55247910C>T, NC_000012.11:g.55641694C>A, NC_000012.11:g.55641694C>T, NM_001005490.2:c.623C>A, NM_001005490.2:c.623C>T, NM_001005490.1:c.623C>A, NM_001005490.1:c.623C>T, NP_001005490.1:p.Thr208Lys, NP_001005490.1:p.Thr208Ile

Select item 144459943217.

rs1444599432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55248037 (GRCh38)
12:55641821 (GRCh37)
Canonical SPDI:: NC_000012.12:55248036:T:C
Gene:: OR6C74 (Varview)
Functional Consequence:: synonymous_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_000012.12:g.55248037T>C, NC_000012.11:g.55641821T>C, NM_001005490.2:c.750T>C, NM_001005490.1:c.750T>C

Select item 143941464718.

rs1439414647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:55248126 (GRCh38)
12:55641910 (GRCh37)
Canonical SPDI:: NC_000012.12:55248125:C:G,NC_000012.12:55248125:C:T
Gene:: OR6C74 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55248126C>G, NC_000012.12:g.55248126C>T, NC_000012.11:g.55641910C>G, NC_000012.11:g.55641910C>T, NM_001005490.2:c.839C>G, NM_001005490.2:c.839C>T, NM_001005490.1:c.839C>G, NM_001005490.1:c.839C>T, NP_001005490.1:p.Ala280Gly, NP_001005490.1:p.Ala280Val

Select item 143675632719.

rs1436756327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:55247788 (GRCh38)
12:55641572 (GRCh37)
Canonical SPDI:: NC_000012.12:55247787:T:G
Gene:: OR6C74 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.55247788T>G, NC_000012.11:g.55641572T>G, NM_001005490.2:c.501T>G, NM_001005490.1:c.501T>G, NP_001005490.1:p.Cys167Trp

Select item 143629745620.

rs1436297456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:55247504 (GRCh38)
12:55641288 (GRCh37)
Canonical SPDI:: NC_000012.12:55247503:A:G
Gene:: OR6C74 (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_000012.12:g.55247504A>G, NC_000012.11:g.55641288A>G, NM_001005490.2:c.217A>G, NM_001005490.1:c.217A>G, NP_001005490.1:p.Thr73Ala

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