SNP Links for Protein (Select 9506747) - SNP

Links from Protein

Items: 1 to 20 of 427

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Select item 14883545371.

rs1488354537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:71754590 (GRCh38)
3:71803741 (GRCh37)
Canonical SPDI:: NC_000003.12:71754589:C:T
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.71754590C>T, NC_000003.11:g.71803741C>T, NM_018971.3:c.541C>T, NM_018971.2:c.541C>T, NM_018971.1:c.541C>T, NP_061844.1:p.Pro181Ser

Select item 14873706592.

rs1487370659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:71754294 (GRCh38)
3:71803445 (GRCh37)
Canonical SPDI:: NC_000003.12:71754293:C:T
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_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_000003.12:g.71754294C>T, NC_000003.11:g.71803445C>T, NM_001134649.3:c.-370G>A, NM_001134649.2:c.-370G>A, NM_001134649.1:c.-370G>A, NM_018971.3:c.245C>T, NM_018971.2:c.245C>T, NM_018971.1:c.245C>T, XM_047448063.1:c.-492G>A, NP_061844.1:p.Ala82Val

Select item 14852312553.

rs1485231255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:71754579 (GRCh38)
3:71803730 (GRCh37)
Canonical SPDI:: NC_000003.12:71754578:C:A
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000016/1 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.71754579C>A, NC_000003.11:g.71803730C>A, NM_018971.3:c.530C>A, NM_018971.2:c.530C>A, NM_018971.1:c.530C>A, NP_061844.1:p.Pro177His

Select item 14840347154.

rs1484034715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:71754533 (GRCh38)
3:71803684 (GRCh37)
Canonical SPDI:: NC_000003.12:71754532:G:C
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.71754533G>C, NC_000003.11:g.71803684G>C, NM_018971.3:c.484G>C, NM_018971.2:c.484G>C, NM_018971.1:c.484G>C, NP_061844.1:p.Gly162Arg

Select item 14805764075.

rs1480576407 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCGCGCGCCGC>- [Show Flanks]
Chromosome:: 3:71754845 (GRCh38)
3:71803996 (GRCh37)
Canonical SPDI:: NC_000003.12:71754839:GCCGCGGCGCGCGCCGC:GCCGC
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: inframe_deletion,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.71754845_71754856del, NC_000003.11:g.71803996_71804007del, NM_018971.3:c.796_807del, NM_018971.2:c.796_807del, NM_018971.1:c.796_807del, NP_061844.1:p.Gly266_Arg269del

Select item 14784445046.

rs1478444504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:71754495 (GRCh38)
3:71803646 (GRCh37)
Canonical SPDI:: NC_000003.12:71754494:C:A,NC_000003.12:71754494:C:G
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.71754495C>A, NC_000003.12:g.71754495C>G, NC_000003.11:g.71803646C>A, NC_000003.11:g.71803646C>G, NM_001134649.3:c.-571G>T, NM_001134649.3:c.-571G>C, NM_018971.3:c.446C>A, NM_018971.3:c.446C>G, NM_018971.2:c.446C>A, NM_018971.2:c.446C>G, NM_018971.1:c.446C>A, NM_018971.1:c.446C>G, XM_047448063.1:c.-693G>T, XM_047448063.1:c.-693G>C, NP_061844.1:p.Ala149Glu, NP_061844.1:p.Ala149Gly

Select item 14779356577.

rs1477935657 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 3:71754668 (GRCh38)
3:71803819 (GRCh37)
Canonical SPDI:: NC_000003.12:71754662:TCTTCTTC:TCTTC
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: upstream_transcript_variant,inframe_deletion,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.71754665TTC[1], NC_000003.11:g.71803816TTC[1], NM_173359.5:c.-315AGA[1], NM_173359.4:c.-315AGA[1], NM_018971.3:c.616TTC[1], NM_018971.2:c.616TTC[1], NM_018971.1:c.616TTC[1], NP_061844.1:p.Phe207del

Select item 14752710368.

rs1475271036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:71754834 (GRCh38)
3:71803985 (GRCh37)
Canonical SPDI:: NC_000003.12:71754833:G:A
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.71754834G>A, NC_000003.11:g.71803985G>A, NM_018971.3:c.785G>A, NM_018971.2:c.785G>A, NM_018971.1:c.785G>A, NP_061844.1:p.Gly262Glu

Select item 14747372909.

rs1474737290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:71754282 (GRCh38)
3:71803433 (GRCh37)
Canonical SPDI:: NC_000003.12:71754281:C:G,NC_000003.12:71754281:C:T
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.71754282C>G, NC_000003.12:g.71754282C>T, NC_000003.11:g.71803433C>G, NC_000003.11:g.71803433C>T, NM_001134649.3:c.-358G>C, NM_001134649.3:c.-358G>A, NM_001134649.2:c.-358G>C, NM_001134649.2:c.-358G>A, NM_001134649.1:c.-358G>C, NM_001134649.1:c.-358G>A, NM_018971.3:c.233C>G, NM_018971.3:c.233C>T, NM_018971.2:c.233C>G, NM_018971.2:c.233C>T, NM_018971.1:c.233C>G, NM_018971.1:c.233C>T, XM_047448063.1:c.-480G>C, XM_047448063.1:c.-480G>A, NP_061844.1:p.Ala78Gly, NP_061844.1:p.Ala78Val

Select item 147473705410.

rs1474737054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:71754499 (GRCh38)
3:71803650 (GRCh37)
Canonical SPDI:: NC_000003.12:71754498:G:A
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
HGVS:: NC_000003.12:g.71754499G>A, NC_000003.11:g.71803650G>A, NM_018971.3:c.450G>A, NM_018971.2:c.450G>A, NM_018971.1:c.450G>A

Select item 147443349611.

rs1474433496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:71754092 (GRCh38)
3:71803243 (GRCh37)
Canonical SPDI:: NC_000003.12:71754091:G:A
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000003.12:g.71754092G>A, NC_000003.11:g.71803243G>A, NM_018971.3:c.43G>A, NM_018971.2:c.43G>A, NM_018971.1:c.43G>A, NP_061844.1:p.Ala15Thr

Select item 147440829212.

rs1474408292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:71754844 (GRCh38)
3:71803995 (GRCh37)
Canonical SPDI:: NC_000003.12:71754843:C:T
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.71754844C>T, NC_000003.11:g.71803995C>T, NM_018971.3:c.795C>T, NM_018971.2:c.795C>T, NM_018971.1:c.795C>T

Select item 147301013713.

rs1473010137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:71754370 (GRCh38)
3:71803521 (GRCh37)
Canonical SPDI:: NC_000003.12:71754369:C:T
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant
HGVS:: NC_000003.12:g.71754370C>T, NC_000003.11:g.71803521C>T, NM_001134649.3:c.-446G>A, NM_001134649.2:c.-446G>A, NM_001134649.1:c.-446G>A, NM_018971.3:c.321C>T, NM_018971.2:c.321C>T, NM_018971.1:c.321C>T, XM_047448063.1:c.-568G>A

Select item 147297606614.

rs1472976066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:71755040 (GRCh38)
3:71804191 (GRCh37)
Canonical SPDI:: NC_000003.12:71755039:G:A,NC_000003.12:71755039:G:C
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.71755040G>A, NC_000003.12:g.71755040G>C, NC_000003.11:g.71804191G>A, NC_000003.11:g.71804191G>C, NM_018971.3:c.991G>A, NM_018971.3:c.991G>C, NM_018971.2:c.991G>A, NM_018971.2:c.991G>C, NM_018971.1:c.991G>A, NM_018971.1:c.991G>C, NP_061844.1:p.Ala331Thr, NP_061844.1:p.Ala331Pro

Select item 147110246315.

rs1471102463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:71754283 (GRCh38)
3:71803434 (GRCh37)
Canonical SPDI:: NC_000003.12:71754282:G:C,NC_000003.12:71754282:G:T
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.71754283G>C, NC_000003.12:g.71754283G>T, NC_000003.11:g.71803434G>C, NC_000003.11:g.71803434G>T, NM_001134649.3:c.-359C>G, NM_001134649.3:c.-359C>A, NM_001134649.2:c.-359C>G, NM_001134649.2:c.-359C>A, NM_001134649.1:c.-359C>G, NM_001134649.1:c.-359C>A, NM_018971.3:c.234G>C, NM_018971.3:c.234G>T, NM_018971.2:c.234G>C, NM_018971.2:c.234G>T, NM_018971.1:c.234G>C, NM_018971.1:c.234G>T, XM_047448063.1:c.-481C>G, XM_047448063.1:c.-481C>A

Select item 147107294716.

rs1471072947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:71755104 (GRCh38)
3:71804255 (GRCh37)
Canonical SPDI:: NC_000003.12:71755103:A:C,NC_000003.12:71755103:A:G
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.71755104A>C, NC_000003.12:g.71755104A>G, NC_000003.11:g.71804255A>C, NC_000003.11:g.71804255A>G, NM_018971.3:c.1055A>C, NM_018971.3:c.1055A>G, NM_018971.2:c.1055A>C, NM_018971.2:c.1055A>G, NM_018971.1:c.1055A>C, NM_018971.1:c.1055A>G, NP_061844.1:p.Gln352Pro, NP_061844.1:p.Gln352Arg

Select item 146952867917.

rs1469528679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 3:71754705 (GRCh38)
3:71803856 (GRCh37)
Canonical SPDI:: NC_000003.12:71754704:T:A,NC_000003.12:71754704:T:C,NC_000003.12:71754704:T:G
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.71754705T>A, NC_000003.12:g.71754705T>C, NC_000003.12:g.71754705T>G, NC_000003.11:g.71803856T>A, NC_000003.11:g.71803856T>C, NC_000003.11:g.71803856T>G, NM_173359.5:c.-352A>T, NM_173359.5:c.-352A>G, NM_173359.5:c.-352A>C, NM_173359.4:c.-352A>T, NM_173359.4:c.-352A>G, NM_173359.4:c.-352A>C, NM_018971.3:c.656T>A, NM_018971.3:c.656T>C, NM_018971.3:c.656T>G, NM_018971.2:c.656T>A, NM_018971.2:c.656T>C, NM_018971.2:c.656T>G, NM_018971.1:c.656T>A, NM_018971.1:c.656T>C, NM_018971.1:c.656T>G, NP_061844.1:p.Leu219Gln, NP_061844.1:p.Leu219Pro, NP_061844.1:p.Leu219Arg

Select item 146905443818.

rs1469054438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:71755068 (GRCh38)
3:71804219 (GRCh37)
Canonical SPDI:: NC_000003.12:71755067:T:A
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.71755068T>A, NC_000003.11:g.71804219T>A, NM_018971.3:c.1019T>A, NM_018971.2:c.1019T>A, NM_018971.1:c.1019T>A, NP_061844.1:p.Leu340His

Select item 146820185319.

rs1468201853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:71754354 (GRCh38)
3:71803505 (GRCh37)
Canonical SPDI:: NC_000003.12:71754353:C:T
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/1 (GnomAD_exomes)
T=0.000015/2 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000177/3 (TOMMO)
T=0.002463/6 (KOREAN)
T=0.003977/7 (Korea1K)
HGVS:: NC_000003.12:g.71754354C>T, NC_000003.11:g.71803505C>T, NM_001134649.3:c.-430G>A, NM_001134649.2:c.-430G>A, NM_001134649.1:c.-430G>A, NM_018971.3:c.305C>T, NM_018971.2:c.305C>T, NM_018971.1:c.305C>T, XM_047448063.1:c.-552G>A, NP_061844.1:p.Ala102Val

Select item 146776297820.

rs1467762978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:71754490 (GRCh38)
3:71803641 (GRCh37)
Canonical SPDI:: NC_000003.12:71754489:C:A,NC_000003.12:71754489:C:T
Gene:: GPR27 (Varview), EIF4E3 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00007/1 (TOMMO)
HGVS:: NC_000003.12:g.71754490C>A, NC_000003.12:g.71754490C>T, NC_000003.11:g.71803641C>A, NC_000003.11:g.71803641C>T, NM_001134649.3:c.-566G>T, NM_001134649.3:c.-566G>A, NM_018971.3:c.441C>A, NM_018971.3:c.441C>T, NM_018971.2:c.441C>A, NM_018971.2:c.441C>T, NM_018971.1:c.441C>A, NM_018971.1:c.441C>T, XM_047448063.1:c.-688G>T, XM_047448063.1:c.-688G>A

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