SNP Links for Protein (Select 122937301) - SNP

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Links from Protein

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Select item 14896212001.

rs1489621200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:6733882 (GRCh38)
19:6733893 (GRCh37)
Canonical SPDI:: NC_000019.10:6733881:A:C
Gene:: GPR108 (Varview)
Functional Consequence:: 5_prime_UTR_variant,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_000019.10:g.6733882A>C, NC_000019.9:g.6733893A>C, NM_020171.2:c.-146T>G, NM_020171.1:c.-146T>G, NM_001080452.2:c.581T>G, NM_001080452.1:c.581T>G, NM_001394715.1:c.-146T>G, NM_001394726.1:c.-146T>G, NM_001394728.1:c.-146T>G, NM_001394724.1:c.-146T>G, NM_001394727.1:c.-146T>G, NM_001394716.1:c.-146T>G, NM_001394719.1:c.581T>G, NM_001394723.1:c.581T>G, NM_001394717.1:c.581T>G, NM_001394720.1:c.581T>G, NM_001394721.1:c.530T>G, NM_001394725.1:c.-146T>G, NM_001394722.1:c.581T>G, XM_047439110.1:c.-146T>G, NM_001394714.1:c.-146T>G, NM_001394718.1:c.581T>G, NP_001073921.1:p.Leu194Trp, NP_001381648.1:p.Leu194Trp, NP_001381652.1:p.Leu194Trp, NP_001381646.1:p.Leu194Trp, NP_001381649.1:p.Leu194Trp, NP_001381650.1:p.Leu177Trp, NP_001381651.1:p.Leu194Trp, NP_001381647.1:p.Leu194Trp

Select item 14889940082.

rs1488994008 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 19:6733286 (GRCh38)
19:6733297 (GRCh37)
Canonical SPDI:: NC_000019.10:6733281:TTCTTCT:TTCT
Gene:: GPR108 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6733283TCT[1], NC_000019.9:g.6733294TCT[1], NM_020171.2:c.12GAA[1], NM_020171.1:c.12GAA[1], NM_001080452.2:c.738GAA[1], NM_001080452.1:c.738GAA[1], NM_001394715.1:c.12GAA[1], NM_001394726.1:c.12GAA[1], NM_001394728.1:c.12GAA[1], NM_001394724.1:c.12GAA[1], NM_001394727.1:c.12GAA[1], NM_001394716.1:c.12GAA[1], NM_001394719.1:c.738GAA[1], NM_001394723.1:c.738GAA[1], NM_001394717.1:c.738GAA[1], NM_001394720.1:c.738GAA[1], NM_001394721.1:c.687GAA[1], NM_001394725.1:c.12GAA[1], NM_001394722.1:c.738GAA[1], XM_047439110.1:c.12GAA[1], NM_001394714.1:c.12GAA[1], NM_001394718.1:c.738GAA[1], NP_064556.1:p.Lys5del, NP_001073921.1:p.Lys247del, NP_001381644.1:p.Lys5del, NP_001381655.1:p.Lys5del, NP_001381657.1:p.Lys5del, NP_001381653.1:p.Lys5del, NP_001381656.1:p.Lys5del, NP_001381645.1:p.Lys5del, NP_001381648.1:p.Lys247del, NP_001381652.1:p.Lys247del, NP_001381646.1:p.Lys247del, NP_001381649.1:p.Lys247del, NP_001381650.1:p.Lys230del, NP_001381654.1:p.Lys5del, NP_001381651.1:p.Lys247del, XP_047295066.1:p.Lys5del, NP_001381643.1:p.Lys5del, NP_001381647.1:p.Lys247del

Select item 14867862363.

rs1486786236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:6736650 (GRCh38)
19:6736661 (GRCh37)
Canonical SPDI:: NC_000019.10:6736649:T:A
Gene:: GPR108 (Varview), MIR6791 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6736650T>A, NC_000019.9:g.6736661T>A, NM_020171.2:c.-545A>T, NM_020171.1:c.-545A>T, NM_001080452.2:c.182A>T, NM_001080452.1:c.182A>T, NM_001394715.1:c.-627A>T, NM_001394726.1:c.-545A>T, NM_001394728.1:c.-545A>T, NM_001394724.1:c.-545A>T, NM_001394727.1:c.-545A>T, NM_001394716.1:c.-462A>T, NM_001394719.1:c.182A>T, NM_001394723.1:c.182A>T, NM_001394717.1:c.182A>T, NM_001394720.1:c.182A>T, NM_001394721.1:c.182A>T, NM_001394725.1:c.-545A>T, NM_001394722.1:c.182A>T, XM_047439110.1:c.-545A>T, NM_001394714.1:c.-545A>T, NM_001394718.1:c.182A>T, NP_001073921.1:p.Glu61Val, NP_001381648.1:p.Glu61Val, NP_001381652.1:p.Glu61Val, NP_001381646.1:p.Glu61Val, NP_001381649.1:p.Glu61Val, NP_001381650.1:p.Glu61Val, NP_001381651.1:p.Glu61Val, NP_001381647.1:p.Glu61Val

Select item 14839288504.

rs1483928850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6734307 (GRCh38)
19:6734318 (GRCh37)
Canonical SPDI:: NC_000019.10:6734306:C:T
Gene:: GPR108 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_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_000019.10:g.6734307C>T, NC_000019.9:g.6734318C>T, NM_020171.2:c.-352G>A, NM_020171.1:c.-352G>A, NM_001080452.2:c.375G>A, NM_001080452.1:c.375G>A, NM_001394715.1:c.-352G>A, NM_001394726.1:c.-352G>A, NM_001394728.1:c.-352G>A, NM_001394724.1:c.-352G>A, NM_001394727.1:c.-352G>A, NM_001394716.1:c.-352G>A, NM_001394719.1:c.375G>A, NM_001394723.1:c.375G>A, NM_001394717.1:c.375G>A, NM_001394720.1:c.375G>A, NM_001394721.1:c.324G>A, NM_001394725.1:c.-352G>A, NM_001394722.1:c.375G>A, XM_047439110.1:c.-352G>A, NM_001394714.1:c.-352G>A, NM_001394718.1:c.375G>A

Select item 14830472025.

rs1483047202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:6733226 (GRCh38)
19:6733237 (GRCh37)
Canonical SPDI:: NC_000019.10:6733225:T:C
Gene:: GPR108 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6733226T>C, NC_000019.9:g.6733237T>C, NM_020171.2:c.73A>G, NM_020171.1:c.73A>G, NM_001080452.2:c.799A>G, NM_001080452.1:c.799A>G, NM_001394715.1:c.73A>G, NM_001394726.1:c.73A>G, NM_001394728.1:c.73A>G, NM_001394724.1:c.73A>G, NM_001394727.1:c.73A>G, NM_001394716.1:c.73A>G, NM_001394719.1:c.799A>G, NM_001394723.1:c.799A>G, NM_001394717.1:c.799A>G, NM_001394720.1:c.799A>G, NM_001394721.1:c.748A>G, NM_001394725.1:c.73A>G, NM_001394722.1:c.799A>G, XM_047439110.1:c.73A>G, NM_001394714.1:c.73A>G, NM_001394718.1:c.799A>G, NP_064556.1:p.Met25Val, NP_001073921.1:p.Met267Val, NP_001381644.1:p.Met25Val, NP_001381655.1:p.Met25Val, NP_001381657.1:p.Met25Val, NP_001381653.1:p.Met25Val, NP_001381656.1:p.Met25Val, NP_001381645.1:p.Met25Val, NP_001381648.1:p.Met267Val, NP_001381652.1:p.Met267Val, NP_001381646.1:p.Met267Val, NP_001381649.1:p.Met267Val, NP_001381650.1:p.Met250Val, NP_001381654.1:p.Met25Val, NP_001381651.1:p.Met267Val, XP_047295066.1:p.Met25Val, NP_001381643.1:p.Met25Val, NP_001381647.1:p.Met267Val

Select item 14828489636.

rs1482848963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:6733031 (GRCh38)
19:6733042 (GRCh37)
Canonical SPDI:: NC_000019.10:6733030:C:A
Gene:: GPR108 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.6733031C>A, NC_000019.9:g.6733042C>A, NM_020171.2:c.163G>T, NM_020171.1:c.163G>T, NM_001080452.2:c.889G>T, NM_001080452.1:c.889G>T, NM_001394715.1:c.163G>T, NM_001394726.1:c.163G>T, NM_001394728.1:c.163G>T, NM_001394724.1:c.163G>T, NM_001394727.1:c.163G>T, NM_001394716.1:c.163G>T, NM_001394719.1:c.889G>T, NM_001394723.1:c.889G>T, NM_001394717.1:c.889G>T, NM_001394720.1:c.889G>T, NM_001394721.1:c.838G>T, NM_001394725.1:c.163G>T, NM_001394722.1:c.889G>T, XM_047439110.1:c.163G>T, NM_001394714.1:c.163G>T, NM_001394718.1:c.889G>T, NP_064556.1:p.Ala55Ser, NP_001073921.1:p.Ala297Ser, NP_001381644.1:p.Ala55Ser, NP_001381655.1:p.Ala55Ser, NP_001381657.1:p.Ala55Ser, NP_001381653.1:p.Ala55Ser, NP_001381656.1:p.Ala55Ser, NP_001381645.1:p.Ala55Ser, NP_001381648.1:p.Ala297Ser, NP_001381652.1:p.Ala297Ser, NP_001381646.1:p.Ala297Ser, NP_001381649.1:p.Ala297Ser, NP_001381650.1:p.Ala280Ser, NP_001381654.1:p.Ala55Ser, NP_001381651.1:p.Ala297Ser, XP_047295066.1:p.Ala55Ser, NP_001381643.1:p.Ala55Ser, NP_001381647.1:p.Ala297Ser

Select item 14813382017.

rs1481338201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:6732069 (GRCh38)
19:6732080 (GRCh37)
Canonical SPDI:: NC_000019.10:6732068:C:A,NC_000019.10:6732068:C:G,NC_000019.10:6732068:C:T
Gene:: GPR108 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.6732069C>A, NC_000019.10:g.6732069C>G, NC_000019.10:g.6732069C>T, NC_000019.9:g.6732080C>A, NC_000019.9:g.6732080C>G, NC_000019.9:g.6732080C>T, NM_020171.2:c.486G>T, NM_020171.2:c.486G>C, NM_020171.2:c.486G>A, NM_020171.1:c.486G>T, NM_020171.1:c.486G>C, NM_020171.1:c.486G>A, NM_001080452.2:c.1212G>T, NM_001080452.2:c.1212G>C, NM_001080452.2:c.1212G>A, NM_001080452.1:c.1212G>T, NM_001080452.1:c.1212G>C, NM_001080452.1:c.1212G>A, NM_001394715.1:c.486G>T, NM_001394715.1:c.486G>C, NM_001394715.1:c.486G>A, NM_001394726.1:c.486G>T, NM_001394726.1:c.486G>C, NM_001394726.1:c.486G>A, NM_001394728.1:c.486G>T, NM_001394728.1:c.486G>C, NM_001394728.1:c.486G>A, NM_001394724.1:c.486G>T, NM_001394724.1:c.486G>C, NM_001394724.1:c.486G>A, NM_001394727.1:c.486G>T, NM_001394727.1:c.486G>C, NM_001394727.1:c.486G>A, NM_001394716.1:c.486G>T, NM_001394716.1:c.486G>C, NM_001394716.1:c.486G>A, NM_001394719.1:c.1212G>T, NM_001394719.1:c.1212G>C, NM_001394719.1:c.1212G>A, NM_001394723.1:c.1212G>T, NM_001394723.1:c.1212G>C, NM_001394723.1:c.1212G>A, NM_001394717.1:c.1212G>T, NM_001394717.1:c.1212G>C, NM_001394717.1:c.1212G>A, NM_001394720.1:c.1212G>T, NM_001394720.1:c.1212G>C, NM_001394720.1:c.1212G>A, NM_001394721.1:c.1161G>T, NM_001394721.1:c.1161G>C, NM_001394721.1:c.1161G>A, NM_001394725.1:c.486G>T, NM_001394725.1:c.486G>C, NM_001394725.1:c.486G>A, NM_001394722.1:c.1212G>T, NM_001394722.1:c.1212G>C, NM_001394722.1:c.1212G>A, XM_047439110.1:c.486G>T, XM_047439110.1:c.486G>C, XM_047439110.1:c.486G>A, NM_001394714.1:c.486G>T, NM_001394714.1:c.486G>C, NM_001394714.1:c.486G>A, NM_001394718.1:c.1212G>T, NM_001394718.1:c.1212G>C, NM_001394718.1:c.1212G>A

Select item 14808224898.

rs1480822489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:6733653 (GRCh38)
19:6733664 (GRCh37)
Canonical SPDI:: NC_000019.10:6733652:G:C
Gene:: GPR108 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.6733653G>C, NC_000019.9:g.6733664G>C, NM_020171.2:c.-87C>G, NM_020171.1:c.-87C>G, NM_001080452.2:c.640C>G, NM_001080452.1:c.640C>G, NM_001394715.1:c.-87C>G, NM_001394726.1:c.-87C>G, NM_001394728.1:c.-87C>G, NM_001394724.1:c.-87C>G, NM_001394727.1:c.-87C>G, NM_001394716.1:c.-87C>G, NM_001394719.1:c.640C>G, NM_001394723.1:c.640C>G, NM_001394717.1:c.640C>G, NM_001394720.1:c.640C>G, NM_001394721.1:c.589C>G, NM_001394725.1:c.-87C>G, NM_001394722.1:c.640C>G, XM_047439110.1:c.-87C>G, NM_001394714.1:c.-87C>G, NM_001394718.1:c.640C>G, NP_001073921.1:p.Gln214Glu, NP_001381648.1:p.Gln214Glu, NP_001381652.1:p.Gln214Glu, NP_001381646.1:p.Gln214Glu, NP_001381649.1:p.Gln214Glu, NP_001381650.1:p.Gln197Glu, NP_001381651.1:p.Gln214Glu, NP_001381647.1:p.Gln214Glu

Select item 14787771149.

rs1478777114 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:6733646 (GRCh38)
19:6733657 (GRCh37)
Canonical SPDI:: NC_000019.10:6733645:T:G
Gene:: GPR108 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6733646T>G, NC_000019.9:g.6733657T>G, NM_020171.2:c.-80A>C, NM_020171.1:c.-80A>C, NM_001080452.2:c.647A>C, NM_001080452.1:c.647A>C, NM_001394715.1:c.-80A>C, NM_001394726.1:c.-80A>C, NM_001394728.1:c.-80A>C, NM_001394724.1:c.-80A>C, NM_001394727.1:c.-80A>C, NM_001394716.1:c.-80A>C, NM_001394719.1:c.647A>C, NM_001394723.1:c.647A>C, NM_001394717.1:c.647A>C, NM_001394720.1:c.647A>C, NM_001394721.1:c.596A>C, NM_001394725.1:c.-80A>C, NM_001394722.1:c.647A>C, XM_047439110.1:c.-80A>C, NM_001394714.1:c.-80A>C, NM_001394718.1:c.647A>C, NP_001073921.1:p.Glu216Ala, NP_001381648.1:p.Glu216Ala, NP_001381652.1:p.Glu216Ala, NP_001381646.1:p.Glu216Ala, NP_001381649.1:p.Glu216Ala, NP_001381650.1:p.Glu199Ala, NP_001381651.1:p.Glu216Ala, NP_001381647.1:p.Glu216Ala

Select item 147832527310.

rs1478325273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:6735672 (GRCh38)
19:6735683 (GRCh37)
Canonical SPDI:: NC_000019.10:6735671:T:G
Gene:: GPR108 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.6735672T>G, NC_000019.9:g.6735683T>G, NM_020171.2:c.-403A>C, NM_020171.1:c.-403A>C, NM_001080452.2:c.324A>C, NM_001080452.1:c.324A>C, NM_001394715.1:c.-485A>C, NM_001394726.1:c.-403A>C, NM_001394728.1:c.-403A>C, NM_001394724.1:c.-403A>C, NM_001394727.1:c.-403A>C, NM_001394719.1:c.324A>C, NM_001394723.1:c.324A>C, NM_001394717.1:c.324A>C, NM_001394720.1:c.324A>C, NM_001394721.1:c.273A>C, NM_001394725.1:c.-403A>C, NM_001394722.1:c.324A>C, XM_047439110.1:c.-403A>C, NM_001394714.1:c.-403A>C, NM_001394718.1:c.324A>C, NP_001073921.1:p.Lys108Asn, NP_001381648.1:p.Lys108Asn, NP_001381652.1:p.Lys108Asn, NP_001381646.1:p.Lys108Asn, NP_001381649.1:p.Lys108Asn, NP_001381650.1:p.Lys91Asn, NP_001381651.1:p.Lys108Asn, NP_001381647.1:p.Lys108Asn

Select item 147799744511.

rs1477997445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:6737460 (GRCh38)
19:6737471 (GRCh37)
Canonical SPDI:: NC_000019.10:6737459:C:A,NC_000019.10:6737459:C:T
Gene:: GPR108 (Varview), MIR6791 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6737460C>A, NC_000019.10:g.6737460C>T, NC_000019.9:g.6737471C>A, NC_000019.9:g.6737471C>T, NM_001080452.2:c.117G>T, NM_001080452.2:c.117G>A, NM_001080452.1:c.117G>T, NM_001080452.1:c.117G>A, NM_001394719.1:c.117G>T, NM_001394719.1:c.117G>A, NM_001394723.1:c.117G>T, NM_001394723.1:c.117G>A, NM_001394717.1:c.117G>T, NM_001394717.1:c.117G>A, NM_001394720.1:c.117G>T, NM_001394720.1:c.117G>A, NM_001394721.1:c.117G>T, NM_001394721.1:c.117G>A, NM_001394722.1:c.117G>T, NM_001394722.1:c.117G>A, NM_001394718.1:c.117G>T, NM_001394718.1:c.117G>A

Select item 147484554412.

rs1474845544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:6732153 (GRCh38)
19:6732164 (GRCh37)
Canonical SPDI:: NC_000019.10:6732152:G:C
Gene:: GPR108 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6732153G>C, NC_000019.9:g.6732164G>C, NM_020171.2:c.402C>G, NM_020171.1:c.402C>G, NM_001080452.2:c.1128C>G, NM_001080452.1:c.1128C>G, NM_001394715.1:c.402C>G, NM_001394726.1:c.402C>G, NM_001394728.1:c.402C>G, NM_001394724.1:c.402C>G, NM_001394727.1:c.402C>G, NM_001394716.1:c.402C>G, NM_001394719.1:c.1128C>G, NM_001394723.1:c.1128C>G, NM_001394717.1:c.1128C>G, NM_001394720.1:c.1128C>G, NM_001394721.1:c.1077C>G, NM_001394725.1:c.402C>G, NM_001394722.1:c.1128C>G, XM_047439110.1:c.402C>G, NM_001394714.1:c.402C>G, NM_001394718.1:c.1128C>G

Select item 147474442913.

rs1474744429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:6734208 (GRCh38)
19:6734219 (GRCh37)
Canonical SPDI:: NC_000019.10:6734207:G:T
Gene:: GPR108 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6734208G>T, NC_000019.9:g.6734219G>T, NM_020171.2:c.-253C>A, NM_020171.1:c.-253C>A, NM_001080452.2:c.474C>A, NM_001080452.1:c.474C>A, NM_001394715.1:c.-253C>A, NM_001394726.1:c.-253C>A, NM_001394728.1:c.-253C>A, NM_001394724.1:c.-253C>A, NM_001394727.1:c.-253C>A, NM_001394716.1:c.-253C>A, NM_001394719.1:c.474C>A, NM_001394723.1:c.474C>A, NM_001394717.1:c.474C>A, NM_001394720.1:c.474C>A, NM_001394721.1:c.423C>A, NM_001394725.1:c.-253C>A, NM_001394722.1:c.474C>A, XM_047439110.1:c.-253C>A, NM_001394714.1:c.-253C>A, NM_001394718.1:c.474C>A

Select item 147153218714.

rs1471532187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:6731240 (GRCh38)
19:6731251 (GRCh37)
Canonical SPDI:: NC_000019.10:6731239:G:C
Gene:: GPR108 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6731240G>C, NC_000019.9:g.6731251G>C, NM_020171.2:c.667C>G, NM_020171.1:c.667C>G, NM_001080452.2:c.1393C>G, NM_001080452.1:c.1393C>G, NM_001394715.1:c.667C>G, NM_001394726.1:c.699C>G, NM_001394728.1:c.699C>G, NM_001394724.1:c.623C>G, NM_001394727.1:c.667C>G, NM_001394716.1:c.667C>G, NM_001394719.1:c.1425C>G, NM_001394723.1:c.1425C>G, NM_001394717.1:c.1349C>G, NM_001394721.1:c.1342C>G, NM_001394725.1:c.699C>G, NM_001394722.1:c.1393C>G, XM_047439110.1:c.667C>G, NM_001394714.1:c.667C>G, NM_001394718.1:c.1393C>G, NP_064556.1:p.Leu223Val, NP_001073921.1:p.Leu465Val, NP_001381644.1:p.Leu223Val, NP_001381655.1:p.Cys233Trp, NP_001381657.1:p.Cys233Trp, NP_001381653.1:p.Ala208Gly, NP_001381656.1:p.Leu223Val, NP_001381645.1:p.Leu223Val, NP_001381648.1:p.Cys475Trp, NP_001381652.1:p.Cys475Trp, NP_001381646.1:p.Ala450Gly, NP_001381650.1:p.Leu448Val, NP_001381654.1:p.Cys233Trp, NP_001381651.1:p.Leu465Val, XP_047295066.1:p.Leu223Val, NP_001381643.1:p.Leu223Val, NP_001381647.1:p.Leu465Val

Select item 146885867915.

rs1468858679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6734215 (GRCh38)
19:6734226 (GRCh37)
Canonical SPDI:: NC_000019.10:6734214:G:A
Gene:: GPR108 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6734215G>A, NC_000019.9:g.6734226G>A, NM_020171.2:c.-260C>T, NM_020171.1:c.-260C>T, NM_001080452.2:c.467C>T, NM_001080452.1:c.467C>T, NM_001394715.1:c.-260C>T, NM_001394726.1:c.-260C>T, NM_001394728.1:c.-260C>T, NM_001394724.1:c.-260C>T, NM_001394727.1:c.-260C>T, NM_001394716.1:c.-260C>T, NM_001394719.1:c.467C>T, NM_001394723.1:c.467C>T, NM_001394717.1:c.467C>T, NM_001394720.1:c.467C>T, NM_001394721.1:c.416C>T, NM_001394725.1:c.-260C>T, NM_001394722.1:c.467C>T, XM_047439110.1:c.-260C>T, NM_001394714.1:c.-260C>T, NM_001394718.1:c.467C>T, NP_001073921.1:p.Pro156Leu, NP_001381648.1:p.Pro156Leu, NP_001381652.1:p.Pro156Leu, NP_001381646.1:p.Pro156Leu, NP_001381649.1:p.Pro156Leu, NP_001381650.1:p.Pro139Leu, NP_001381651.1:p.Pro156Leu, NP_001381647.1:p.Pro156Leu

Select item 146696481616.

rs1466964816 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:6732310 (GRCh38)
19:6732321 (GRCh37)
Canonical SPDI:: NC_000019.10:6732309:GG:G
Gene:: GPR108 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000019.10:g.6732311del, NC_000019.9:g.6732322del, NM_020171.2:c.352del, NM_020171.1:c.352del, NM_001080452.2:c.1078del, NM_001080452.1:c.1078del, NM_001394715.1:c.352del, NM_001394726.1:c.352del, NM_001394728.1:c.352del, NM_001394724.1:c.352del, NM_001394727.1:c.352del, NM_001394716.1:c.352del, NM_001394719.1:c.1078del, NM_001394723.1:c.1078del, NM_001394717.1:c.1078del, NM_001394720.1:c.1078del, NM_001394721.1:c.1027del, NM_001394725.1:c.352del, NM_001394722.1:c.1078del, XM_047439110.1:c.352del, NM_001394714.1:c.352del, NM_001394718.1:c.1078del, NP_064556.1:p.Leu118fs, NP_001073921.1:p.Leu360fs, NP_001381644.1:p.Leu118fs, NP_001381655.1:p.Leu118fs, NP_001381657.1:p.Leu118fs, NP_001381653.1:p.Leu118fs, NP_001381656.1:p.Leu118fs, NP_001381645.1:p.Leu118fs, NP_001381648.1:p.Leu360fs, NP_001381652.1:p.Leu360fs, NP_001381646.1:p.Leu360fs, NP_001381649.1:p.Leu360fs, NP_001381650.1:p.Leu343fs, NP_001381654.1:p.Leu118fs, NP_001381651.1:p.Leu360fs, XP_047295066.1:p.Leu118fs, NP_001381643.1:p.Leu118fs, NP_001381647.1:p.Leu360fs

Select item 146646897417.

rs1466468974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6734192 (GRCh38)
19:6734203 (GRCh37)
Canonical SPDI:: NC_000019.10:6734191:C:T
Gene:: GPR108 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6734192C>T, NC_000019.9:g.6734203C>T, NM_020171.2:c.-237G>A, NM_020171.1:c.-237G>A, NM_001080452.2:c.490G>A, NM_001080452.1:c.490G>A, NM_001394715.1:c.-237G>A, NM_001394726.1:c.-237G>A, NM_001394728.1:c.-237G>A, NM_001394724.1:c.-237G>A, NM_001394727.1:c.-237G>A, NM_001394716.1:c.-237G>A, NM_001394719.1:c.490G>A, NM_001394723.1:c.490G>A, NM_001394717.1:c.490G>A, NM_001394720.1:c.490G>A, NM_001394721.1:c.439G>A, NM_001394725.1:c.-237G>A, NM_001394722.1:c.490G>A, XM_047439110.1:c.-237G>A, NM_001394714.1:c.-237G>A, NM_001394718.1:c.490G>A, NP_001073921.1:p.Val164Met, NP_001381648.1:p.Val164Met, NP_001381652.1:p.Val164Met, NP_001381646.1:p.Val164Met, NP_001381649.1:p.Val164Met, NP_001381650.1:p.Val147Met, NP_001381651.1:p.Val164Met, NP_001381647.1:p.Val164Met

Select item 146438229318.

rs1464382293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6732084 (GRCh38)
19:6732095 (GRCh37)
Canonical SPDI:: NC_000019.10:6732083:C:T
Gene:: GPR108 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6732084C>T, NC_000019.9:g.6732095C>T, NM_020171.2:c.471G>A, NM_020171.1:c.471G>A, NM_001080452.2:c.1197G>A, NM_001080452.1:c.1197G>A, NM_001394715.1:c.471G>A, NM_001394726.1:c.471G>A, NM_001394728.1:c.471G>A, NM_001394724.1:c.471G>A, NM_001394727.1:c.471G>A, NM_001394716.1:c.471G>A, NM_001394719.1:c.1197G>A, NM_001394723.1:c.1197G>A, NM_001394717.1:c.1197G>A, NM_001394720.1:c.1197G>A, NM_001394721.1:c.1146G>A, NM_001394725.1:c.471G>A, NM_001394722.1:c.1197G>A, XM_047439110.1:c.471G>A, NM_001394714.1:c.471G>A, NM_001394718.1:c.1197G>A

Select item 146421207219.

rs1464212072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6733893 (GRCh38)
19:6733904 (GRCh37)
Canonical SPDI:: NC_000019.10:6733892:C:T
Gene:: GPR108 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.6733893C>T, NC_000019.9:g.6733904C>T, NM_020171.2:c.-157G>A, NM_020171.1:c.-157G>A, NM_001080452.2:c.570G>A, NM_001080452.1:c.570G>A, NM_001394715.1:c.-157G>A, NM_001394726.1:c.-157G>A, NM_001394728.1:c.-157G>A, NM_001394724.1:c.-157G>A, NM_001394727.1:c.-157G>A, NM_001394716.1:c.-157G>A, NM_001394719.1:c.570G>A, NM_001394723.1:c.570G>A, NM_001394717.1:c.570G>A, NM_001394720.1:c.570G>A, NM_001394721.1:c.519G>A, NM_001394725.1:c.-157G>A, NM_001394722.1:c.570G>A, XM_047439110.1:c.-157G>A, NM_001394714.1:c.-157G>A, NM_001394718.1:c.570G>A

Select item 146365661120.

rs1463656611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:6732541 (GRCh38)
19:6732552 (GRCh37)
Canonical SPDI:: NC_000019.10:6732540:G:C
Gene:: GPR108 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6732541G>C, NC_000019.9:g.6732552G>C, NM_020171.2:c.216C>G, NM_020171.1:c.216C>G, NM_001080452.2:c.942C>G, NM_001080452.1:c.942C>G, NM_001394715.1:c.216C>G, NM_001394726.1:c.216C>G, NM_001394728.1:c.216C>G, NM_001394724.1:c.216C>G, NM_001394727.1:c.216C>G, NM_001394716.1:c.216C>G, NM_001394719.1:c.942C>G, NM_001394723.1:c.942C>G, NM_001394717.1:c.942C>G, NM_001394720.1:c.942C>G, NM_001394721.1:c.891C>G, NM_001394725.1:c.216C>G, NM_001394722.1:c.942C>G, XM_047439110.1:c.216C>G, NM_001394714.1:c.216C>G, NM_001394718.1:c.942C>G, NP_064556.1:p.Tyr72Ter, NP_001073921.1:p.Tyr314Ter, NP_001381644.1:p.Tyr72Ter, NP_001381655.1:p.Tyr72Ter, NP_001381657.1:p.Tyr72Ter, NP_001381653.1:p.Tyr72Ter, NP_001381656.1:p.Tyr72Ter, NP_001381645.1:p.Tyr72Ter, NP_001381648.1:p.Tyr314Ter, NP_001381652.1:p.Tyr314Ter, NP_001381646.1:p.Tyr314Ter, NP_001381649.1:p.Tyr314Ter, NP_001381650.1:p.Tyr297Ter, NP_001381654.1:p.Tyr72Ter, NP_001381651.1:p.Tyr314Ter, XP_047295066.1:p.Tyr72Ter, NP_001381643.1:p.Tyr72Ter, NP_001381647.1:p.Tyr314Ter

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