SNP Links for Protein (Select 556503406) - SNP

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Links from Protein

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Select item 14900582461.

rs1490058246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:116806898 (GRCh38)
6:117128061 (GRCh37)
Canonical SPDI:: NC_000006.12:116806897:G:A,NC_000006.12:116806897:G:T
Gene:: GPRC6A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.116806898G>A, NC_000006.12:g.116806898G>T, NC_000006.11:g.117128061G>A, NC_000006.11:g.117128061G>T, NM_148963.4:c.807C>T, NM_148963.4:c.807C>A, NM_148963.3:c.807C>T, NM_148963.3:c.807C>A, NM_148963.2:c.807C>T, NM_148963.2:c.807C>A, XM_017010475.2:c.666C>T, XM_017010475.2:c.666C>A, XM_017010475.1:c.666C>T, XM_017010475.1:c.666C>A, XM_017010476.2:c.807C>T, XM_017010476.2:c.807C>A, XM_017010476.1:c.807C>T, XM_017010476.1:c.807C>A, NM_001286355.1:c.807C>T, NM_001286355.1:c.807C>A, NM_001286354.1:c.807C>T, NM_001286354.1:c.807C>A

Select item 14896638502.

rs1489663850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:116793149 (GRCh38)
6:117114312 (GRCh37)
Canonical SPDI:: NC_000006.12:116793148:A:T
Gene:: GPRC6A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.116793149A>T, NC_000006.11:g.117114312A>T, NM_148963.4:c.1774T>A, NM_148963.3:c.1774T>A, NM_148963.2:c.1774T>A, XM_017010475.2:c.1633T>A, XM_017010475.1:c.1633T>A, NM_001286355.1:c.1561T>A, NM_001286354.1:c.1249T>A, NP_683766.2:p.Ser592Thr, XP_016865964.1:p.Ser545Thr, NP_001273284.1:p.Ser521Thr, NP_001273283.1:p.Ser417Thr

Select item 14888464703.

rs1488846470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:116792522 (GRCh38)
6:117113685 (GRCh37)
Canonical SPDI:: NC_000006.12:116792521:T:C,NC_000006.12:116792521:T:G
Gene:: GPRC6A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000006.12:g.116792522T>C, NC_000006.12:g.116792522T>G, NC_000006.11:g.117113685T>C, NC_000006.11:g.117113685T>G, NM_148963.4:c.2401A>G, NM_148963.4:c.2401A>C, NM_148963.3:c.2401A>G, NM_148963.3:c.2401A>C, NM_148963.2:c.2401A>G, NM_148963.2:c.2401A>C, XM_017010475.2:c.2260A>G, XM_017010475.2:c.2260A>C, XM_017010475.1:c.2260A>G, XM_017010475.1:c.2260A>C, NM_001286355.1:c.2188A>G, NM_001286355.1:c.2188A>C, NM_001286354.1:c.1876A>G, NM_001286354.1:c.1876A>C, NP_683766.2:p.Ile801Val, NP_683766.2:p.Ile801Leu, XP_016865964.1:p.Ile754Val, XP_016865964.1:p.Ile754Leu, NP_001273284.1:p.Ile730Val, NP_001273284.1:p.Ile730Leu, NP_001273283.1:p.Ile626Val, NP_001273283.1:p.Ile626Leu

Select item 14868346054.

rs1486834605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:116809551 (GRCh38)
6:117130714 (GRCh37)
Canonical SPDI:: NC_000006.12:116809550:T:G
Gene:: GPRC6A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.116809551T>G, NC_000006.11:g.117130714T>G, NM_148963.4:c.261A>C, NM_148963.3:c.261A>C, NM_148963.2:c.261A>C, XM_017010475.2:c.120A>C, XM_017010475.1:c.120A>C, XM_017010476.2:c.261A>C, XM_017010476.1:c.261A>C, NM_001286355.1:c.261A>C, NM_001286354.1:c.261A>C

Select item 14863001625.

rs1486300162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:116792311 (GRCh38)
6:117113474 (GRCh37)
Canonical SPDI:: NC_000006.12:116792310:A:T
Gene:: GPRC6A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000006.12:g.116792311A>T, NC_000006.11:g.117113474A>T, NM_148963.4:c.2612T>A, NM_148963.3:c.2612T>A, NM_148963.2:c.2612T>A, XM_017010475.2:c.2471T>A, XM_017010475.1:c.2471T>A, NM_001286355.1:c.2399T>A, NM_001286354.1:c.2087T>A, NP_683766.2:p.Leu871Gln, XP_016865964.1:p.Leu824Gln, NP_001273284.1:p.Leu800Gln, NP_001273283.1:p.Leu696Gln

Select item 14854462916.

rs1485446291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:116809353 (GRCh38)
6:117130516 (GRCh37)
Canonical SPDI:: NC_000006.12:116809352:C:T
Gene:: GPRC6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.116809353C>T, NC_000006.11:g.117130516C>T, NM_148963.4:c.459G>A, NM_148963.3:c.459G>A, NM_148963.2:c.459G>A, XM_017010475.2:c.318G>A, XM_017010475.1:c.318G>A, XM_017010476.2:c.459G>A, XM_017010476.1:c.459G>A, NM_001286355.1:c.459G>A, NM_001286354.1:c.459G>A, NP_683766.2:p.Met153Ile, XP_016865964.1:p.Met106Ile, XP_016865965.1:p.Met153Ile, NP_001273284.1:p.Met153Ile, NP_001273283.1:p.Met153Ile

Select item 14806098107.

rs1480609810 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 6:116792530 (GRCh38)
6:117113693 (GRCh37)
Canonical SPDI:: NC_000006.12:116792529:AA:A
Gene:: GPRC6A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.116792531del, NC_000006.11:g.117113694del, NM_148963.4:c.2393del, NM_148963.3:c.2393del, NM_148963.2:c.2393del, XM_017010475.2:c.2252del, XM_017010475.1:c.2252del, NM_001286355.1:c.2180del, NM_001286354.1:c.1868del, NP_683766.2:p.Phe798fs, XP_016865964.1:p.Phe751fs, NP_001273284.1:p.Phe727fs, NP_001273283.1:p.Phe623fs

Select item 14804582968.

rs1480458296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:116809367 (GRCh38)
6:117130530 (GRCh37)
Canonical SPDI:: NC_000006.12:116809366:A:G
Gene:: GPRC6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.116809367A>G, NC_000006.11:g.117130530A>G, NM_148963.4:c.445T>C, NM_148963.3:c.445T>C, NM_148963.2:c.445T>C, XM_017010475.2:c.304T>C, XM_017010475.1:c.304T>C, XM_017010476.2:c.445T>C, XM_017010476.1:c.445T>C, NM_001286355.1:c.445T>C, NM_001286354.1:c.445T>C, NP_683766.2:p.Ser149Pro, XP_016865964.1:p.Ser102Pro, XP_016865965.1:p.Ser149Pro, NP_001273284.1:p.Ser149Pro, NP_001273283.1:p.Ser149Pro

Select item 14800116169.

rs1480011616 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:116792431 (GRCh38)
6:117113594 (GRCh37)
Canonical SPDI:: NC_000006.12:116792430:A:T
Gene:: GPRC6A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.116792431A>T, NC_000006.11:g.117113594A>T, NM_148963.4:c.2492T>A, NM_148963.3:c.2492T>A, NM_148963.2:c.2492T>A, XM_017010475.2:c.2351T>A, XM_017010475.1:c.2351T>A, NM_001286355.1:c.2279T>A, NM_001286354.1:c.1967T>A, NP_683766.2:p.Ile831Asn, XP_016865964.1:p.Ile784Asn, NP_001273284.1:p.Ile760Asn, NP_001273283.1:p.Ile656Asn

Select item 147935621910.

rs1479356219 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:116807186 (GRCh38)
6:117128349 (GRCh37)
Canonical SPDI:: NC_000006.12:116807185:T:C
Gene:: GPRC6A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.116807186T>C, NC_000006.11:g.117128349T>C, NM_148963.4:c.519A>G, NM_148963.3:c.519A>G, NM_148963.2:c.519A>G, XM_017010475.2:c.378A>G, XM_017010475.1:c.378A>G, XM_017010476.2:c.519A>G, XM_017010476.1:c.519A>G, NM_001286355.1:c.519A>G, NM_001286354.1:c.519A>G

Select item 147767721411.

rs1477677214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:116792704 (GRCh38)
6:117113867 (GRCh37)
Canonical SPDI:: NC_000006.12:116792703:A:G
Gene:: GPRC6A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.116792704A>G, NC_000006.11:g.117113867A>G, NM_148963.4:c.2219T>C, NM_148963.3:c.2219T>C, NM_148963.2:c.2219T>C, XM_017010475.2:c.2078T>C, XM_017010475.1:c.2078T>C, NM_001286355.1:c.2006T>C, NM_001286354.1:c.1694T>C, NP_683766.2:p.Ile740Thr, XP_016865964.1:p.Ile693Thr, NP_001273284.1:p.Ile669Thr, NP_001273283.1:p.Ile565Thr

Select item 147749658412.

rs1477496584 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:116800720 (GRCh38)
6:117121883 (GRCh37)
Canonical SPDI:: NC_000006.12:116800719:T:C
Gene:: GPRC6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.116800720T>C, NC_000006.11:g.117121883T>C, NM_148963.4:c.1412A>G, NM_148963.3:c.1412A>G, NM_148963.2:c.1412A>G, XM_017010475.2:c.1271A>G, XM_017010475.1:c.1271A>G, XM_017010476.2:c.1412A>G, XM_017010476.1:c.1412A>G, NM_001286354.1:c.887A>G, NP_683766.2:p.Asn471Ser, XP_016865964.1:p.Asn424Ser, XP_016865965.1:p.Asn471Ser, NP_001273283.1:p.Asn296Ser

Select item 147667520613.

rs1476675206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:116806939 (GRCh38)
6:117128102 (GRCh37)
Canonical SPDI:: NC_000006.12:116806938:C:G,NC_000006.12:116806938:C:T
Gene:: GPRC6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.116806939C>G, NC_000006.12:g.116806939C>T, NC_000006.11:g.117128102C>G, NC_000006.11:g.117128102C>T, NM_148963.4:c.766G>C, NM_148963.4:c.766G>A, NM_148963.3:c.766G>C, NM_148963.3:c.766G>A, NM_148963.2:c.766G>C, NM_148963.2:c.766G>A, XM_017010475.2:c.625G>C, XM_017010475.2:c.625G>A, XM_017010475.1:c.625G>C, XM_017010475.1:c.625G>A, XM_017010476.2:c.766G>C, XM_017010476.2:c.766G>A, XM_017010476.1:c.766G>C, XM_017010476.1:c.766G>A, NM_001286355.1:c.766G>C, NM_001286355.1:c.766G>A, NM_001286354.1:c.766G>C, NM_001286354.1:c.766G>A, NP_683766.2:p.Val256Leu, NP_683766.2:p.Val256Ile, XP_016865964.1:p.Val209Leu, XP_016865964.1:p.Val209Ile, XP_016865965.1:p.Val256Leu, XP_016865965.1:p.Val256Ile, NP_001273284.1:p.Val256Leu, NP_001273284.1:p.Val256Ile, NP_001273283.1:p.Val256Leu, NP_001273283.1:p.Val256Ile

Select item 147589746714.

rs1475897467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:116792873 (GRCh38)
6:117114036 (GRCh37)
Canonical SPDI:: NC_000006.12:116792872:T:A
Gene:: GPRC6A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.116792873T>A, NC_000006.11:g.117114036T>A, NM_148963.4:c.2050A>T, NM_148963.3:c.2050A>T, NM_148963.2:c.2050A>T, XM_017010475.2:c.1909A>T, XM_017010475.1:c.1909A>T, NM_001286355.1:c.1837A>T, NM_001286354.1:c.1525A>T, NP_683766.2:p.Ile684Phe, XP_016865964.1:p.Ile637Phe, NP_001273284.1:p.Ile613Phe, NP_001273283.1:p.Ile509Phe

Select item 147556734015.

rs1475567340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:116792590 (GRCh38)
6:117113753 (GRCh37)
Canonical SPDI:: NC_000006.12:116792589:T:C
Gene:: GPRC6A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_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_000006.12:g.116792590T>C, NC_000006.11:g.117113753T>C, NM_148963.4:c.2333A>G, NM_148963.3:c.2333A>G, NM_148963.2:c.2333A>G, XM_017010475.2:c.2192A>G, XM_017010475.1:c.2192A>G, NM_001286355.1:c.2120A>G, NM_001286354.1:c.1808A>G, NP_683766.2:p.Tyr778Cys, XP_016865964.1:p.Tyr731Cys, NP_001273284.1:p.Tyr707Cys, NP_001273283.1:p.Tyr603Cys

Select item 147443153716.

rs1474431537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:116828901 (GRCh38)
6:117150064 (GRCh37)
Canonical SPDI:: NC_000006.12:116828900:A:G
Gene:: GPRC6A (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.116828901A>G, NC_000006.11:g.117150064A>G, NM_148963.4:c.113T>C, NM_148963.3:c.113T>C, NM_148963.2:c.113T>C, XM_017010475.2:c.-29T>C, XM_017010475.1:c.-29T>C, XM_017010476.2:c.113T>C, XM_017010476.1:c.113T>C, NM_001286355.1:c.113T>C, NM_001286354.1:c.113T>C, NP_683766.2:p.Ile38Thr, XP_016865965.1:p.Ile38Thr, NP_001273284.1:p.Ile38Thr, NP_001273283.1:p.Ile38Thr

Select item 147316232817.

rs1473162328 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAG>- [Show Flanks]
Chromosome:: 6:116793025 (GRCh38)
6:117114188 (GRCh37)
Canonical SPDI:: NC_000006.12:116793022:AGCAG:AG
Gene:: GPRC6A (Varview)
Functional Consequence:: inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000006.12:g.116793025_116793027del, NC_000006.11:g.117114188_117114190del, NM_148963.4:c.1898_1900del, NM_148963.3:c.1898_1900del, NM_148963.2:c.1898_1900del, XM_017010475.2:c.1757_1759del, XM_017010475.1:c.1757_1759del, NM_001286355.1:c.1685_1687del, NM_001286354.1:c.1373_1375del, NP_683766.2:p.Cys633del, XP_016865964.1:p.Cys586del, NP_001273284.1:p.Cys562del, NP_001273283.1:p.Cys458del

Select item 147082115918.

rs1470821159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:116828911 (GRCh38)
6:117150074 (GRCh37)
Canonical SPDI:: NC_000006.12:116828910:G:A
Gene:: GPRC6A (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.116828911G>A, NC_000006.11:g.117150074G>A, NM_148963.4:c.103C>T, NM_148963.3:c.103C>T, NM_148963.2:c.103C>T, XM_017010475.2:c.-39C>T, XM_017010475.1:c.-39C>T, XM_017010476.2:c.103C>T, XM_017010476.1:c.103C>T, NM_001286355.1:c.103C>T, NM_001286354.1:c.103C>T, NP_683766.2:p.His35Tyr, XP_016865965.1:p.His35Tyr, NP_001273284.1:p.His35Tyr, NP_001273283.1:p.His35Tyr

Select item 147064013419.

rs1470640134 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:116828897 (GRCh38)
6:117150060 (GRCh37)
Canonical SPDI:: NC_000006.12:116828896:T:C
Gene:: GPRC6A (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.116828897T>C, NC_000006.11:g.117150060T>C, NM_148963.4:c.117A>G, NM_148963.3:c.117A>G, NM_148963.2:c.117A>G, XM_017010475.2:c.-25A>G, XM_017010475.1:c.-25A>G, XM_017010476.2:c.117A>G, XM_017010476.1:c.117A>G, NM_001286355.1:c.117A>G, NM_001286354.1:c.117A>G

Select item 147044127820.

rs1470441278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:116792265 (GRCh38)
6:117113428 (GRCh37)
Canonical SPDI:: NC_000006.12:116792264:A:G
Gene:: GPRC6A (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.116792265A>G, NC_000006.11:g.117113428A>G, NM_148963.4:c.2658T>C, NM_148963.3:c.2658T>C, NM_148963.2:c.2658T>C, XM_017010475.2:c.2517T>C, XM_017010475.1:c.2517T>C, NM_001286355.1:c.2445T>C, NM_001286354.1:c.2133T>C

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