SNP Links for Protein (Select 156416009) - SNP

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Links from Protein

Items: 1 to 20 of 202

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Select item 14855598741.

rs1485559874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:182600458 (GRCh38)
1:182569593 (GRCh37)
Canonical SPDI:: NC_000001.11:182600457:G:A,NC_000001.11:182600457:G:T
Gene:: RGS16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182600458G>A, NC_000001.11:g.182600458G>T, NC_000001.10:g.182569593G>A, NC_000001.10:g.182569593G>T, NM_002928.4:c.443C>T, NM_002928.4:c.443C>A, NM_002928.3:c.443C>T, NM_002928.3:c.443C>A, XM_024448796.1:c.440C>T, XM_024448796.1:c.440C>A, NP_002919.3:p.Thr148Ile, NP_002919.3:p.Thr148Lys, XP_024304564.1:p.Thr147Ile, XP_024304564.1:p.Thr147Lys

Select item 14807904682.

rs1480790468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:182602441 (GRCh38)
1:182571576 (GRCh37)
Canonical SPDI:: NC_000001.11:182602440:C:G,NC_000001.11:182602440:C:T
Gene:: RGS16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.182602441C>G, NC_000001.11:g.182602441C>T, NC_000001.10:g.182571576C>G, NC_000001.10:g.182571576C>T, NM_002928.4:c.199G>C, NM_002928.4:c.199G>A, NM_002928.3:c.199G>C, NM_002928.3:c.199G>A, XM_024448796.1:c.196G>C, XM_024448796.1:c.196G>A, NP_002919.3:p.Asp67His, NP_002919.3:p.Asp67Asn, XP_024304564.1:p.Asp66His, XP_024304564.1:p.Asp66Asn

Select item 14778528793.

rs1477852879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:182603237 (GRCh38)
1:182572372 (GRCh37)
Canonical SPDI:: NC_000001.11:182603236:G:C
Gene:: RGS16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000001.11:g.182603237G>C, NC_000001.10:g.182572372G>C, NM_002928.4:c.147C>G, NM_002928.3:c.147C>G, XM_024448796.1:c.147C>G, NP_002919.3:p.Ser49Arg, XP_024304564.1:p.Ser49Arg

Select item 14687764084.

rs1468776408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:182603312 (GRCh38)
1:182572447 (GRCh37)
Canonical SPDI:: NC_000001.11:182603311:C:T
Gene:: RGS16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000001.11:g.182603312C>T, NC_000001.10:g.182572447C>T, NM_002928.4:c.72G>A, NM_002928.3:c.72G>A, XM_024448796.1:c.72G>A

Select item 14626736145.

rs1462673614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:182601993 (GRCh38)
1:182571128 (GRCh37)
Canonical SPDI:: NC_000001.11:182601992:C:T
Gene:: RGS16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.182601993C>T, NC_000001.10:g.182571128C>T, NM_002928.4:c.360G>A, NM_002928.3:c.360G>A, XM_024448796.1:c.357G>A

Select item 14558188706.

rs1455818870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:182600418 (GRCh38)
1:182569553 (GRCh37)
Canonical SPDI:: NC_000001.11:182600417:G:A,NC_000001.11:182600417:G:C
Gene:: RGS16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.182600418G>A, NC_000001.11:g.182600418G>C, NC_000001.10:g.182569553G>A, NC_000001.10:g.182569553G>C, NM_002928.4:c.483C>T, NM_002928.4:c.483C>G, NM_002928.3:c.483C>T, NM_002928.3:c.483C>G, XM_024448796.1:c.480C>T, XM_024448796.1:c.480C>G

Select item 14470744537.

rs1447074453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:182600335 (GRCh38)
1:182569470 (GRCh37)
Canonical SPDI:: NC_000001.11:182600334:G:A
Gene:: RGS16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.182600335G>A, NC_000001.10:g.182569470G>A, NM_002928.4:c.566C>T, NM_002928.3:c.566C>T, XM_024448796.1:c.563C>T, NP_002919.3:p.Ala189Val, XP_024304564.1:p.Ala188Val

Select item 14415326068.

rs1441532606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:182603325 (GRCh38)
1:182572460 (GRCh37)
Canonical SPDI:: NC_000001.11:182603324:T:C
Gene:: RGS16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.182603325T>C, NC_000001.10:g.182572460T>C, NM_002928.4:c.59A>G, NM_002928.3:c.59A>G, XM_024448796.1:c.59A>G, NP_002919.3:p.Lys20Arg, XP_024304564.1:p.Lys20Arg

Select item 14214108419.

rs1421410841 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCA [Show Flanks]
Chromosome:: 1:182603280 (GRCh38)
1:182572416 (GRCh37)
Canonical SPDI:: NC_000001.11:182603280:CGCA:CGCACGCA
Gene:: RGS16 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCACGCA=0./0 (ALFA)
CGCA=0.000004/1 (GnomAD_exomes)
CGCA=0.000004/1 (TOPMED)
CGCA=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.182603281_182603284dup, NC_000001.10:g.182572416_182572419dup, NM_002928.4:c.100_103dup, NM_002928.3:c.100_103dup, XM_024448796.1:c.100_103dup, NP_002919.3:p.Asp35fs, XP_024304564.1:p.Asp35fs

Select item 142022573310.

rs1420225733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:182600415 (GRCh38)
1:182569550 (GRCh37)
Canonical SPDI:: NC_000001.11:182600414:C:T
Gene:: RGS16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.182600415C>T, NC_000001.10:g.182569550C>T, NM_002928.4:c.486G>A, NM_002928.3:c.486G>A, XM_024448796.1:c.483G>A

Select item 141691514811.

rs1416915148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:182602108 (GRCh38)
1:182571243 (GRCh37)
Canonical SPDI:: NC_000001.11:182602107:A:T
Gene:: RGS16 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182602108A>T, NC_000001.10:g.182571243A>T, NM_002928.4:c.245T>A, NM_002928.3:c.245T>A, XM_024448796.1:c.242T>A, NP_002919.3:p.Phe82Tyr, XP_024304564.1:p.Phe81Tyr

Select item 141513171612.

rs1415131716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:182600438 (GRCh38)
1:182569573 (GRCh37)
Canonical SPDI:: NC_000001.11:182600437:C:A,NC_000001.11:182600437:C:T
Gene:: RGS16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.182600438C>A, NC_000001.11:g.182600438C>T, NC_000001.10:g.182569573C>A, NC_000001.10:g.182569573C>T, NM_002928.4:c.463G>T, NM_002928.4:c.463G>A, NM_002928.3:c.463G>T, NM_002928.3:c.463G>A, XM_024448796.1:c.460G>T, XM_024448796.1:c.460G>A, NP_002919.3:p.Ala155Ser, NP_002919.3:p.Ala155Thr, XP_024304564.1:p.Ala154Ser, XP_024304564.1:p.Ala154Thr

Select item 141326555313.

rs1413265553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:182602013 (GRCh38)
1:182571148 (GRCh37)
Canonical SPDI:: NC_000001.11:182602012:C:T
Gene:: RGS16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.182602013C>T, NC_000001.10:g.182571148C>T, NM_002928.4:c.340G>A, NM_002928.3:c.340G>A, XM_024448796.1:c.337G>A, NP_002919.3:p.Ala114Thr, XP_024304564.1:p.Ala113Thr

Select item 139763413814.

rs1397634138 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:182603245 (GRCh38)
1:182572381 (GRCh37)
Canonical SPDI:: NC_000001.11:182603245:A:AA
Gene:: RGS16 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182603246dup, NC_000001.10:g.182572381dup, NM_002928.4:c.138dup, NM_002928.3:c.138dup, XM_024448796.1:c.138dup, NP_002919.3:p.Lys47Ter, XP_024304564.1:p.Lys47Ter

Select item 139756433015.

rs1397564330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:182600356 (GRCh38)
1:182569491 (GRCh37)
Canonical SPDI:: NC_000001.11:182600355:G:A,NC_000001.11:182600355:G:C
Gene:: RGS16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.182600356G>A, NC_000001.11:g.182600356G>C, NC_000001.10:g.182569491G>A, NC_000001.10:g.182569491G>C, NM_002928.4:c.545C>T, NM_002928.4:c.545C>G, NM_002928.3:c.545C>T, NM_002928.3:c.545C>G, XM_024448796.1:c.542C>T, XM_024448796.1:c.542C>G, NP_002919.3:p.Ala182Val, NP_002919.3:p.Ala182Gly, XP_024304564.1:p.Ala181Val, XP_024304564.1:p.Ala181Gly

Select item 139679225016.

rs1396792250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:182600355 (GRCh38)
1:182569490 (GRCh37)
Canonical SPDI:: NC_000001.11:182600354:G:A
Gene:: RGS16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.182600355G>A, NC_000001.10:g.182569490G>A, NM_002928.4:c.546C>T, NM_002928.3:c.546C>T, XM_024448796.1:c.543C>T

Select item 139594106517.

rs1395941065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:182602072 (GRCh38)
1:182571207 (GRCh37)
Canonical SPDI:: NC_000001.11:182602071:A:G
Gene:: RGS16 (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_000001.11:g.182602072A>G, NC_000001.10:g.182571207A>G, NM_002928.4:c.281T>C, NM_002928.3:c.281T>C, XM_024448796.1:c.278T>C, NP_002919.3:p.Phe94Ser, XP_024304564.1:p.Phe93Ser

Select item 138640529818.

rs1386405298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:182600296 (GRCh38)
1:182569431 (GRCh37)
Canonical SPDI:: NC_000001.11:182600295:G:A
Gene:: RGS16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.182600296G>A, NC_000001.10:g.182569431G>A, NM_002928.4:c.605C>T, NM_002928.3:c.605C>T, XM_024448796.1:c.602C>T, NP_002919.3:p.Thr202Ile, XP_024304564.1:p.Thr201Ile