SNP Links for Protein (Select 156104880) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 391

<< First< Prev

Page of 20

Next >Last >>

Select item 14849027631.

rs1484902763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:16250313 (GRCh38)
6:16250544 (GRCh37)
Canonical SPDI:: NC_000006.12:16250312:T:G
Gene:: GMPR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.16250313T>G, NC_000006.11:g.16250544T>G, NG_013303.1:g.16734T>G, NM_006877.4:c.237T>G, NM_006877.3:c.237T>G, XM_047418656.1:c.237T>G, NP_006868.3:p.His79Gln, XP_047274612.1:p.His79Gln

Select item 14833902122.

rs1483390212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:16238712 (GRCh38)
6:16238943 (GRCh37)
Canonical SPDI:: NC_000006.12:16238711:G:A
Gene:: GMPR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000006.12:g.16238712G>A, NC_000006.11:g.16238943G>A, NG_013303.1:g.5133G>A, NM_006877.4:c.19G>A, NM_006877.3:c.19G>A, XM_047418656.1:c.19G>A, NP_006868.3:p.Asp7Asn, XP_047274612.1:p.Asp7Asn

Select item 14821147293.

rs1482114729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:16254662 (GRCh38)
6:16254893 (GRCh37)
Canonical SPDI:: NC_000006.12:16254661:C:T
Gene:: GMPR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.16254662C>T, NC_000006.11:g.16254893C>T, NG_013303.1:g.21083C>T, NM_006877.4:c.392C>T, NM_006877.3:c.392C>T, XM_047418656.1:c.392C>T, NP_006868.3:p.Ala131Val, XP_047274612.1:p.Ala131Val

Select item 14807139004.

rs1480713900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:16254620 (GRCh38)
6:16254851 (GRCh37)
Canonical SPDI:: NC_000006.12:16254619:T:C
Gene:: GMPR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.16254620T>C, NC_000006.11:g.16254851T>C, NG_013303.1:g.21041T>C, NM_006877.4:c.350T>C, NM_006877.3:c.350T>C, XM_047418656.1:c.350T>C, NP_006868.3:p.Leu117Pro, XP_047274612.1:p.Leu117Pro

Select item 14786840675.

rs1478684067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:16246850 (GRCh38)
6:16247081 (GRCh37)
Canonical SPDI:: NC_000006.12:16246849:T:C
Gene:: GMPR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.16246850T>C, NC_000006.11:g.16247081T>C, NG_013303.1:g.13271T>C, NM_006877.4:c.96T>C, NM_006877.3:c.96T>C, XM_047418656.1:c.96T>C

Select item 14727926446.

rs1472792644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:16274482 (GRCh38)
6:16274713 (GRCh37)
Canonical SPDI:: NC_000006.12:16274481:T:A,NC_000006.12:16274481:T:C
Gene:: GMPR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.16274482T>A, NC_000006.12:g.16274482T>C, NC_000006.11:g.16274713T>A, NC_000006.11:g.16274713T>C, NG_013303.1:g.40903T>A, NG_013303.1:g.40903T>C, NM_006877.4:c.533T>A, NM_006877.4:c.533T>C, NM_006877.3:c.533T>A, NM_006877.3:c.533T>C, XM_047418656.1:c.533T>A, XM_047418656.1:c.533T>C, NP_006868.3:p.Val178Glu, NP_006868.3:p.Val178Ala, XP_047274612.1:p.Val178Glu, XP_047274612.1:p.Val178Ala

Select item 14716999247.

rs1471699924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:16238720 (GRCh38)
6:16238951 (GRCh37)
Canonical SPDI:: NC_000006.12:16238719:G:A
Gene:: GMPR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.16238720G>A, NC_000006.11:g.16238951G>A, NG_013303.1:g.5141G>A, NM_006877.4:c.27G>A, NM_006877.3:c.27G>A, XM_047418656.1:c.27G>A

Select item 14716276078.

rs1471627607 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:16278815 (GRCh38)
6:16279046 (GRCh37)
Canonical SPDI:: NC_000006.12:16278814:A:C
Gene:: GMPR (Varview)
Functional Consequence:: synonymous_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_000006.12:g.16278815A>C, NC_000006.11:g.16279046A>C, NG_013303.1:g.45236A>C, NM_006877.4:c.579A>C, NM_006877.3:c.579A>C, XM_047418656.1:c.579A>C

Select item 14699031869.

rs1469903186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:16290471 (GRCh38)
6:16290702 (GRCh37)
Canonical SPDI:: NC_000006.12:16290470:C:T
Gene:: GMPR (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.16290471C>T, NC_000006.11:g.16290702C>T, NG_013303.1:g.56892C>T, NM_006877.4:c.707C>T, NM_006877.3:c.707C>T, XM_047418656.1:c.850C>T, NP_006868.3:p.Ala236Val, XP_047274612.1:p.Gln284Ter

Select item 146930544310.

rs1469305443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:16238719 (GRCh38)
6:16238950 (GRCh37)
Canonical SPDI:: NC_000006.12:16238718:A:G
Gene:: GMPR (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.16238719A>G, NC_000006.11:g.16238950A>G, NG_013303.1:g.5140A>G, NM_006877.4:c.26A>G, NM_006877.3:c.26A>G, XM_047418656.1:c.26A>G, NP_006868.3:p.Lys9Arg, XP_047274612.1:p.Lys9Arg

Select item 146924479711.

rs1469244797 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:16285794 (GRCh38)
6:16286025 (GRCh37)
Canonical SPDI:: NC_000006.12:16285793:A:G
Gene:: GMPR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.16285794A>G, NC_000006.11:g.16286025A>G, NG_013303.1:g.52215A>G, NM_006877.4:c.656A>G, NM_006877.3:c.656A>G, XM_047418656.1:c.656A>G, NP_006868.3:p.Asp219Gly, XP_047274612.1:p.Asp219Gly

Select item 146669161612.

rs1466691616 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:16250347 (GRCh38)
6:16250578 (GRCh37)
Canonical SPDI:: NC_000006.12:16250346:A:G
Gene:: GMPR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.16250347A>G, NC_000006.11:g.16250578A>G, NG_013303.1:g.16768A>G, NM_006877.4:c.271A>G, NM_006877.3:c.271A>G, XM_047418656.1:c.271A>G, NP_006868.3:p.Asn91Asp, XP_047274612.1:p.Asn91Asp

Select item 146477056813.

rs1464770568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:16295124 (GRCh38)
6:16295355 (GRCh37)
Canonical SPDI:: NC_000006.12:16295123:G:T
Gene:: GMPR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.16295124G>T, NC_000006.11:g.16295355G>T, NG_013303.1:g.61545G>T, NM_006877.4:c.976G>T, NM_006877.3:c.976G>T, NP_006868.3:p.Glu326Ter

Select item 146219863714.

rs1462198637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:16278796 (GRCh38)
6:16279027 (GRCh37)
Canonical SPDI:: NC_000006.12:16278795:C:T
Gene:: GMPR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.16278796C>T, NC_000006.11:g.16279027C>T, NG_013303.1:g.45217C>T, NM_006877.4:c.560C>T, NM_006877.3:c.560C>T, XM_047418656.1:c.560C>T, NP_006868.3:p.Thr187Ile, XP_047274612.1:p.Thr187Ile

Select item 145304993215.

rs1453049932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:16250319 (GRCh38)
6:16250550 (GRCh37)
Canonical SPDI:: NC_000006.12:16250318:C:G
Gene:: GMPR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.16250319C>G, NC_000006.11:g.16250550C>G, NG_013303.1:g.16740C>G, NM_006877.4:c.243C>G, NM_006877.3:c.243C>G, XM_047418656.1:c.243C>G

Select item 145285534416.

rs1452855344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:16246895 (GRCh38)
6:16247126 (GRCh37)
Canonical SPDI:: NC_000006.12:16246894:G:A,NC_000006.12:16246894:G:T
Gene:: GMPR (Varview)
Functional Consequence:: 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)
T=0.000008/2 (GnomAD_exomes)
A=0.000684/2 (KOREAN)
HGVS:: NC_000006.12:g.16246895G>A, NC_000006.12:g.16246895G>T, NC_000006.11:g.16247126G>A, NC_000006.11:g.16247126G>T, NG_013303.1:g.13316G>A, NG_013303.1:g.13316G>T, NM_006877.4:c.141G>A, NM_006877.4:c.141G>T, NM_006877.3:c.141G>A, NM_006877.3:c.141G>T, XM_047418656.1:c.141G>A, XM_047418656.1:c.141G>T

Select item 144438653317.

rs1444386533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:16238777 (GRCh38)
6:16239008 (GRCh37)
Canonical SPDI:: NC_000006.12:16238776:C:T
Gene:: GMPR (Varview)
Functional Consequence:: 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_000006.12:g.16238777C>T, NC_000006.11:g.16239008C>T, NG_013303.1:g.5198C>T, NM_006877.4:c.84C>T, NM_006877.3:c.84C>T, XM_047418656.1:c.84C>T

Select item 144333236518.

rs1443332365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:16285835 (GRCh38)
6:16286066 (GRCh37)
Canonical SPDI:: NC_000006.12:16285834:G:A
Gene:: GMPR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.16285835G>A, NC_000006.11:g.16286066G>A, NG_013303.1:g.52256G>A, NM_006877.4:c.697G>A, NM_006877.3:c.697G>A, XM_047418656.1:c.697G>A, NP_006868.3:p.Gly233Arg, XP_047274612.1:p.Ala233Thr

Select item 144244769519.

rs1442447695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:16295155 (GRCh38)
6:16295386 (GRCh37)
Canonical SPDI:: NC_000006.12:16295154:T:C
Gene:: GMPR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.16295155T>C, NC_000006.11:g.16295386T>C, NG_013303.1:g.61576T>C, NM_006877.4:c.1007T>C, NM_006877.3:c.1007T>C, NP_006868.3:p.Val336Ala