SNP Links for Protein (Select 238814302) - SNP

Links from Protein

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Select item 14843281081.

rs1484328108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127650770 (GRCh38)
2:128408344 (GRCh37)
Canonical SPDI:: NC_000002.12:127650769:T:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127650770T>C, NC_000002.11:g.128408344T>C, NG_042235.1:g.36017A>G, NM_005291.3:c.119T>C, NM_005291.2:c.119T>C, NM_001161415.2:c.119T>C, NM_001161415.1:c.119T>C, NM_001161416.2:c.35T>C, NM_001161416.1:c.35T>C, NM_001161417.2:c.35T>C, NM_001161417.1:c.35T>C, NP_005282.1:p.Ile40Thr, NP_001154887.1:p.Ile40Thr, NP_001154888.1:p.Ile12Thr, NP_001154889.1:p.Ile12Thr

Select item 14770702322.

rs1477070232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127651055 (GRCh38)
2:128408629 (GRCh37)
Canonical SPDI:: NC_000002.12:127651054:C:T
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.127651055C>T, NC_000002.11:g.128408629C>T, NG_042235.1:g.35732G>A, NM_005291.3:c.404C>T, NM_005291.2:c.404C>T, NM_001161415.2:c.404C>T, NM_001161415.1:c.404C>T, NM_001161416.2:c.320C>T, NM_001161416.1:c.320C>T, NM_001161417.2:c.320C>T, NM_001161417.1:c.320C>T, NP_005282.1:p.Thr135Ile, NP_001154887.1:p.Thr135Ile, NP_001154888.1:p.Thr107Ile, NP_001154889.1:p.Thr107Ile

Select item 14754140583.

rs1475414058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:127651195 (GRCh38)
2:128408769 (GRCh37)
Canonical SPDI:: NC_000002.12:127651194:T:G
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.127651195T>G, NC_000002.11:g.128408769T>G, NG_042235.1:g.35592A>C, NM_005291.3:c.544T>G, NM_005291.2:c.544T>G, NM_001161415.2:c.544T>G, NM_001161415.1:c.544T>G, NM_001161416.2:c.460T>G, NM_001161416.1:c.460T>G, NM_001161417.2:c.460T>G, NM_001161417.1:c.460T>G, NP_005282.1:p.Phe182Val, NP_001154887.1:p.Phe182Val, NP_001154888.1:p.Phe154Val, NP_001154889.1:p.Phe154Val

Select item 14749881524.

rs1474988152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127651551 (GRCh38)
2:128409125 (GRCh37)
Canonical SPDI:: NC_000002.12:127651550:G:A
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.127651551G>A, NC_000002.11:g.128409125G>A, NG_042235.1:g.35236C>T, NM_005291.3:c.900G>A, NM_005291.2:c.900G>A, NM_001161415.2:c.900G>A, NM_001161415.1:c.900G>A, NM_001161416.2:c.816G>A, NM_001161416.1:c.816G>A, NM_001161417.2:c.816G>A, NM_001161417.1:c.816G>A

Select item 14740152455.

rs1474015245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:127651253 (GRCh38)
2:128408827 (GRCh37)
Canonical SPDI:: NC_000002.12:127651252:T:G
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_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_000002.12:g.127651253T>G, NC_000002.11:g.128408827T>G, NG_042235.1:g.35534A>C, NM_005291.3:c.602T>G, NM_005291.2:c.602T>G, NM_001161415.2:c.602T>G, NM_001161415.1:c.602T>G, NM_001161416.2:c.518T>G, NM_001161416.1:c.518T>G, NM_001161417.2:c.518T>G, NM_001161417.1:c.518T>G, NP_005282.1:p.Val201Gly, NP_001154887.1:p.Val201Gly, NP_001154888.1:p.Val173Gly, NP_001154889.1:p.Val173Gly

Select item 14733660476.

rs1473366047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127651665 (GRCh38)
2:128409239 (GRCh37)
Canonical SPDI:: NC_000002.12:127651664:C:T
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.127651665C>T, NC_000002.11:g.128409239C>T, NG_042235.1:g.35122G>A, NM_005291.3:c.1014C>T, NM_005291.2:c.1014C>T, NM_001161415.2:c.1014C>T, NM_001161415.1:c.1014C>T, NM_001161416.2:c.930C>T, NM_001161416.1:c.930C>T, NM_001161417.2:c.930C>T, NM_001161417.1:c.930C>T

Select item 14713129407.

rs1471312940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127651699 (GRCh38)
2:128409273 (GRCh37)
Canonical SPDI:: NC_000002.12:127651698:C:T
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127651699C>T, NC_000002.11:g.128409273C>T, NG_042235.1:g.35088G>A, NM_005291.3:c.1048C>T, NM_005291.2:c.1048C>T, NM_001161415.2:c.1048C>T, NM_001161415.1:c.1048C>T, NM_001161416.2:c.964C>T, NM_001161416.1:c.964C>T, NM_001161417.2:c.964C>T, NM_001161417.1:c.964C>T, NP_005282.1:p.Pro350Ser, NP_001154887.1:p.Pro350Ser, NP_001154888.1:p.Pro322Ser, NP_001154889.1:p.Pro322Ser

Select item 14706891208.

rs1470689120 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127651148 (GRCh38)
2:128408722 (GRCh37)
Canonical SPDI:: NC_000002.12:127651147:A:G
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.127651148A>G, NC_000002.11:g.128408722A>G, NG_042235.1:g.35639T>C, NM_005291.3:c.497A>G, NM_005291.2:c.497A>G, NM_001161415.2:c.497A>G, NM_001161415.1:c.497A>G, NM_001161416.2:c.413A>G, NM_001161416.1:c.413A>G, NM_001161417.2:c.413A>G, NM_001161417.1:c.413A>G, NP_005282.1:p.Lys166Arg, NP_001154887.1:p.Lys166Arg, NP_001154888.1:p.Lys138Arg, NP_001154889.1:p.Lys138Arg

Select item 14691081699.

rs1469108169 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127650829 (GRCh38)
2:128408403 (GRCh37)
Canonical SPDI:: NC_000002.12:127650828:A:G
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000002.12:g.127650829A>G, NC_000002.11:g.128408403A>G, NG_042235.1:g.35958T>C, NM_005291.3:c.178A>G, NM_005291.2:c.178A>G, NM_001161415.2:c.178A>G, NM_001161415.1:c.178A>G, NM_001161416.2:c.94A>G, NM_001161416.1:c.94A>G, NM_001161417.2:c.94A>G, NM_001161417.1:c.94A>G, NP_005282.1:p.Met60Val, NP_001154887.1:p.Met60Val, NP_001154888.1:p.Met32Val, NP_001154889.1:p.Met32Val

Select item 146782936710.

rs1467829367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127651445 (GRCh38)
2:128409019 (GRCh37)
Canonical SPDI:: NC_000002.12:127651444:T:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127651445T>C, NC_000002.11:g.128409019T>C, NG_042235.1:g.35342A>G, NM_005291.3:c.794T>C, NM_005291.2:c.794T>C, NM_001161415.2:c.794T>C, NM_001161415.1:c.794T>C, NM_001161416.2:c.710T>C, NM_001161416.1:c.710T>C, NM_001161417.2:c.710T>C, NM_001161417.1:c.710T>C, NP_005282.1:p.Ile265Thr, NP_001154887.1:p.Ile265Thr, NP_001154888.1:p.Ile237Thr, NP_001154889.1:p.Ile237Thr

Select item 146731648711.

rs1467316487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:127651237 (GRCh38)
2:128408811 (GRCh37)
Canonical SPDI:: NC_000002.12:127651236:G:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127651237G>C, NC_000002.11:g.128408811G>C, NG_042235.1:g.35550C>G, NM_005291.3:c.586G>C, NM_005291.2:c.586G>C, NM_001161415.2:c.586G>C, NM_001161415.1:c.586G>C, NM_001161416.2:c.502G>C, NM_001161416.1:c.502G>C, NM_001161417.2:c.502G>C, NM_001161417.1:c.502G>C, NP_005282.1:p.Val196Leu, NP_001154887.1:p.Val196Leu, NP_001154888.1:p.Val168Leu, NP_001154889.1:p.Val168Leu

Select item 146531868712.

rs1465318687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127650786 (GRCh38)
2:128408360 (GRCh37)
Canonical SPDI:: NC_000002.12:127650785:G:A
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127650786G>A, NC_000002.11:g.128408360G>A, NG_042235.1:g.36001C>T, NM_005291.3:c.135G>A, NM_005291.2:c.135G>A, NM_001161415.2:c.135G>A, NM_001161415.1:c.135G>A, NM_001161416.2:c.51G>A, NM_001161416.1:c.51G>A, NM_001161417.2:c.51G>A, NM_001161417.1:c.51G>A

Select item 146364417613.

rs1463644176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127651457 (GRCh38)
2:128409031 (GRCh37)
Canonical SPDI:: NC_000002.12:127651456:T:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127651457T>C, NC_000002.11:g.128409031T>C, NG_042235.1:g.35330A>G, NM_005291.3:c.806T>C, NM_005291.2:c.806T>C, NM_001161415.2:c.806T>C, NM_001161415.1:c.806T>C, NM_001161416.2:c.722T>C, NM_001161416.1:c.722T>C, NM_001161417.2:c.722T>C, NM_001161417.1:c.722T>C, NP_005282.1:p.Leu269Pro, NP_001154887.1:p.Leu269Pro, NP_001154888.1:p.Leu241Pro, NP_001154889.1:p.Leu241Pro

Select item 146117756414.

rs1461177564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:127651506 (GRCh38)
2:128409080 (GRCh37)
Canonical SPDI:: NC_000002.12:127651505:C:G,NC_000002.12:127651505:C:T
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.127651506C>G, NC_000002.12:g.127651506C>T, NC_000002.11:g.128409080C>G, NC_000002.11:g.128409080C>T, NG_042235.1:g.35281G>C, NG_042235.1:g.35281G>A, NM_005291.3:c.855C>G, NM_005291.3:c.855C>T, NM_005291.2:c.855C>G, NM_005291.2:c.855C>T, NM_001161415.2:c.855C>G, NM_001161415.2:c.855C>T, NM_001161415.1:c.855C>G, NM_001161415.1:c.855C>T, NM_001161416.2:c.771C>G, NM_001161416.2:c.771C>T, NM_001161416.1:c.771C>G, NM_001161416.1:c.771C>T, NM_001161417.2:c.771C>G, NM_001161417.2:c.771C>T, NM_001161417.1:c.771C>G, NM_001161417.1:c.771C>T

Select item 146074261215.

rs1460742612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127651068 (GRCh38)
2:128408642 (GRCh37)
Canonical SPDI:: NC_000002.12:127651067:C:T
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_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_000002.12:g.127651068C>T, NC_000002.11:g.128408642C>T, NG_042235.1:g.35719G>A, NM_005291.3:c.417C>T, NM_005291.2:c.417C>T, NM_001161415.2:c.417C>T, NM_001161415.1:c.417C>T, NM_001161416.2:c.333C>T, NM_001161416.1:c.333C>T, NM_001161417.2:c.333C>T, NM_001161417.1:c.333C>T

Select item 146062690716.

rs1460626907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127651459 (GRCh38)
2:128409033 (GRCh37)
Canonical SPDI:: NC_000002.12:127651458:G:A
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127651459G>A, NC_000002.11:g.128409033G>A, NG_042235.1:g.35328C>T, NM_005291.3:c.808G>A, NM_005291.2:c.808G>A, NM_001161415.2:c.808G>A, NM_001161415.1:c.808G>A, NM_001161416.2:c.724G>A, NM_001161416.1:c.724G>A, NM_001161417.2:c.724G>A, NM_001161417.1:c.724G>A, NP_005282.1:p.Ala270Thr, NP_001154887.1:p.Ala270Thr, NP_001154888.1:p.Ala242Thr, NP_001154889.1:p.Ala242Thr

Select item 145837635417.

rs1458376354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:127650023 (GRCh38)
2:128407598 (GRCh37)
Canonical SPDI:: NC_000002.12:127650022:G:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.127650023G>C, NC_000002.11:g.128407598G>C, NG_042235.1:g.36764C>G, NG_075570.1:g.410G>C, NM_005291.3:c.12G>C, NM_005291.2:c.12G>C, NM_001161415.2:c.12G>C, NM_001161415.1:c.12G>C, XM_047444975.1:c.-1102C>G, XM_047444976.1:c.-807C>G

Select item 144852912118.

rs1448529121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:127651732 (GRCh38)
2:128409306 (GRCh37)
Canonical SPDI:: NC_000002.12:127651731:C:A
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.127651732C>A, NC_000002.11:g.128409306C>A, NG_042235.1:g.35055G>T, NM_005291.3:c.1081C>A, NM_005291.2:c.1081C>A, NM_001161415.2:c.1081C>A, NM_001161415.1:c.1081C>A, NM_001161416.2:c.997C>A, NM_001161416.1:c.997C>A, NM_001161417.2:c.997C>A, NM_001161417.1:c.997C>A, NP_005282.1:p.Leu361Met, NP_001154887.1:p.Leu361Met, NP_001154888.1:p.Leu333Met, NP_001154889.1:p.Leu333Met

Select item 144690770719.

rs1446907707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:127651245 (GRCh38)
2:128408819 (GRCh37)
Canonical SPDI:: NC_000002.12:127651244:A:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000002.12:g.127651245A>C, NC_000002.11:g.128408819A>C, NG_042235.1:g.35542T>G, NM_005291.3:c.594A>C, NM_005291.2:c.594A>C, NM_001161415.2:c.594A>C, NM_001161415.1:c.594A>C, NM_001161416.2:c.510A>C, NM_001161416.1:c.510A>C, NM_001161417.2:c.510A>C, NM_001161417.1:c.510A>C

Select item 144128012920.

rs1441280129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:127651712 (GRCh38)
2:128409286 (GRCh37)
Canonical SPDI:: NC_000002.12:127651711:G:T
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000085/3 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.127651712G>T, NC_000002.11:g.128409286G>T, NG_042235.1:g.35075C>A, NM_005291.3:c.1061G>T, NM_005291.2:c.1061G>T, NM_001161415.2:c.1061G>T, NM_001161415.1:c.1061G>T, NM_001161416.2:c.977G>T, NM_001161416.1:c.977G>T, NM_001161417.2:c.977G>T, NM_001161417.1:c.977G>T, NP_005282.1:p.Gly354Val, NP_001154887.1:p.Gly354Val, NP_001154888.1:p.Gly326Val, NP_001154889.1:p.Gly326Val

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