SNP Links for Protein (Select 1034571900) - SNP

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Links from Protein

Items: 1 to 20 of 458

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Select item 14906949921.

rs1490694992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:69005820 (GRCh38)
11:68773288 (GRCh37)
Canonical SPDI:: NC_000011.10:69005819:A:T
Gene:: MRGPRF (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_000011.10:g.69005820A>T, NC_000011.9:g.68773288A>T, NM_145015.5:c.490T>A, NM_145015.4:c.490T>A, XM_017017170.2:c.490T>A, XM_017017170.1:c.490T>A, XM_024448339.2:c.490T>A, XM_024448339.1:c.490T>A, NM_001098515.2:c.490T>A, NM_001098515.1:c.490T>A, NP_659452.3:p.Cys164Ser, XP_016872659.1:p.Cys164Ser, XP_024304107.1:p.Cys164Ser, NP_001091985.1:p.Cys164Ser

Select item 14899653122.

rs1489965312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:69005434 (GRCh38)
11:68772902 (GRCh37)
Canonical SPDI:: NC_000011.10:69005433:G:A
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.69005434G>A, NC_000011.9:g.68772902G>A, NM_145015.5:c.876C>T, NM_145015.4:c.876C>T, XM_017017170.2:c.876C>T, XM_017017170.1:c.876C>T, XM_024448339.2:c.876C>T, XM_024448339.1:c.876C>T, NM_001098515.2:c.876C>T, NM_001098515.1:c.876C>T

Select item 14880184653.

rs1488018465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:69005866 (GRCh38)
11:68773334 (GRCh37)
Canonical SPDI:: NC_000011.10:69005865:G:A
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000142/2 (TOMMO)
HGVS:: NC_000011.10:g.69005866G>A, NC_000011.9:g.68773334G>A, NM_145015.5:c.444C>T, NM_145015.4:c.444C>T, XM_017017170.2:c.444C>T, XM_017017170.1:c.444C>T, XM_024448339.2:c.444C>T, XM_024448339.1:c.444C>T, NM_001098515.2:c.444C>T, NM_001098515.1:c.444C>T

Select item 14872485844.

rs1487248584 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:69005740 (GRCh38)
11:68773208 (GRCh37)
Canonical SPDI:: NC_000011.10:69005739:GGGGG:GGGG
Gene:: MRGPRF (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.69005744del, NC_000011.9:g.68773212del, NM_145015.5:c.570del, NM_145015.4:c.570del, XM_017017170.2:c.570del, XM_017017170.1:c.570del, XM_024448339.2:c.570del, XM_024448339.1:c.570del, NM_001098515.2:c.570del, NM_001098515.1:c.570del, NP_659452.3:p.Gly191fs, XP_016872659.1:p.Gly191fs, XP_024304107.1:p.Gly191fs, NP_001091985.1:p.Gly191fs

Select item 14858940235.

rs1485894023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69005718 (GRCh38)
11:68773186 (GRCh37)
Canonical SPDI:: NC_000011.10:69005717:C:T
Gene:: MRGPRF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69005718C>T, NC_000011.9:g.68773186C>T, NM_145015.5:c.592G>A, NM_145015.4:c.592G>A, XM_017017170.2:c.592G>A, XM_017017170.1:c.592G>A, XM_024448339.2:c.592G>A, XM_024448339.1:c.592G>A, NM_001098515.2:c.592G>A, NM_001098515.1:c.592G>A, NP_659452.3:p.Asp198Asn, XP_016872659.1:p.Asp198Asn, XP_024304107.1:p.Asp198Asn, NP_001091985.1:p.Asp198Asn

Select item 14830248196.

rs1483024819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69005578 (GRCh38)
11:68773046 (GRCh37)
Canonical SPDI:: NC_000011.10:69005577:C:T
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.69005578C>T, NC_000011.9:g.68773046C>T, NM_145015.5:c.732G>A, NM_145015.4:c.732G>A, XM_017017170.2:c.732G>A, XM_017017170.1:c.732G>A, XM_024448339.2:c.732G>A, XM_024448339.1:c.732G>A, NM_001098515.2:c.732G>A, NM_001098515.1:c.732G>A, NP_659452.3:p.Met244Ile, XP_016872659.1:p.Met244Ile, XP_024304107.1:p.Met244Ile, NP_001091985.1:p.Met244Ile

Select item 14829343277.

rs1482934327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69005942 (GRCh38)
11:68773410 (GRCh37)
Canonical SPDI:: NC_000011.10:69005941:C:T
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69005942C>T, NC_000011.9:g.68773410C>T, NM_145015.5:c.368G>A, NM_145015.4:c.368G>A, XM_017017170.2:c.368G>A, XM_017017170.1:c.368G>A, XM_024448339.2:c.368G>A, XM_024448339.1:c.368G>A, NM_001098515.2:c.368G>A, NM_001098515.1:c.368G>A, NP_659452.3:p.Gly123Glu, XP_016872659.1:p.Gly123Glu, XP_024304107.1:p.Gly123Glu, NP_001091985.1:p.Gly123Glu

Select item 14828030518.

rs1482803051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:69005885 (GRCh38)
11:68773353 (GRCh37)
Canonical SPDI:: NC_000011.10:69005884:C:G
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.69005885C>G, NC_000011.9:g.68773353C>G, NM_145015.5:c.425G>C, NM_145015.4:c.425G>C, XM_017017170.2:c.425G>C, XM_017017170.1:c.425G>C, XM_024448339.2:c.425G>C, XM_024448339.1:c.425G>C, NM_001098515.2:c.425G>C, NM_001098515.1:c.425G>C, NP_659452.3:p.Cys142Ser, XP_016872659.1:p.Cys142Ser, XP_024304107.1:p.Cys142Ser, NP_001091985.1:p.Cys142Ser

Select item 14827641679.

rs1482764167 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:69005416 (GRCh38)
11:68772885 (GRCh37)
Canonical SPDI:: NC_000011.10:69005416:TT:TTT
Gene:: MRGPRF (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.69005418dup, NC_000011.9:g.68772886dup, NM_145015.5:c.893dup, NM_145015.4:c.893dup, XM_017017170.2:c.893dup, XM_017017170.1:c.893dup, XM_024448339.2:c.893dup, XM_024448339.1:c.893dup, NM_001098515.2:c.893dup, NM_001098515.1:c.893dup, NP_659452.3:p.Ser299fs, XP_016872659.1:p.Ser299fs, XP_024304107.1:p.Ser299fs, NP_001091985.1:p.Ser299fs

Select item 148177430810.

rs1481774308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:69009876 (GRCh38)
11:68777344 (GRCh37)
Canonical SPDI:: NC_000011.10:69009875:G:A,NC_000011.10:69009875:G:T
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69009876G>A, NC_000011.10:g.69009876G>T, NC_000011.9:g.68777344G>A, NC_000011.9:g.68777344G>T, NM_145015.5:c.26C>T, NM_145015.5:c.26C>A, NM_145015.4:c.26C>T, NM_145015.4:c.26C>A, XM_017017170.2:c.26C>T, XM_017017170.2:c.26C>A, XM_017017170.1:c.26C>T, XM_017017170.1:c.26C>A, XM_024448339.2:c.26C>T, XM_024448339.2:c.26C>A, XM_024448339.1:c.26C>T, XM_024448339.1:c.26C>A, NM_001098515.2:c.26C>T, NM_001098515.2:c.26C>A, NM_001098515.1:c.26C>T, NM_001098515.1:c.26C>A, NP_659452.3:p.Ala9Val, NP_659452.3:p.Ala9Asp, XP_016872659.1:p.Ala9Val, XP_016872659.1:p.Ala9Asp, XP_024304107.1:p.Ala9Val, XP_024304107.1:p.Ala9Asp, NP_001091985.1:p.Ala9Val, NP_001091985.1:p.Ala9Asp

Select item 148135487411.

rs1481354874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69005637 (GRCh38)
11:68773105 (GRCh37)
Canonical SPDI:: NC_000011.10:69005636:C:T
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.69005637C>T, NC_000011.9:g.68773105C>T, NM_145015.5:c.673G>A, NM_145015.4:c.673G>A, XM_017017170.2:c.673G>A, XM_017017170.1:c.673G>A, XM_024448339.2:c.673G>A, XM_024448339.1:c.673G>A, NM_001098515.2:c.673G>A, NM_001098515.1:c.673G>A, NP_659452.3:p.Glu225Lys, XP_016872659.1:p.Glu225Lys, XP_024304107.1:p.Glu225Lys, NP_001091985.1:p.Glu225Lys

Select item 147971890712.

rs1479718907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:69005394 (GRCh38)
11:68772862 (GRCh37)
Canonical SPDI:: NC_000011.10:69005393:G:A
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69005394G>A, NC_000011.9:g.68772862G>A, NM_145015.5:c.916C>T, NM_145015.4:c.916C>T, XM_017017170.2:c.916C>T, XM_017017170.1:c.916C>T, XM_024448339.2:c.916C>T, XM_024448339.1:c.916C>T, NM_001098515.2:c.916C>T, NM_001098515.1:c.916C>T, NP_659452.3:p.Leu306Phe, XP_016872659.1:p.Leu306Phe, XP_024304107.1:p.Leu306Phe, NP_001091985.1:p.Leu306Phe

Select item 147952937913.

rs1479529379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69005628 (GRCh38)
11:68773096 (GRCh37)
Canonical SPDI:: NC_000011.10:69005627:C:T
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69005628C>T, NC_000011.9:g.68773096C>T, NM_145015.5:c.682G>A, NM_145015.4:c.682G>A, XM_017017170.2:c.682G>A, XM_017017170.1:c.682G>A, XM_024448339.2:c.682G>A, XM_024448339.1:c.682G>A, NM_001098515.2:c.682G>A, NM_001098515.1:c.682G>A, NP_659452.3:p.Ala228Thr, XP_016872659.1:p.Ala228Thr, XP_024304107.1:p.Ala228Thr, NP_001091985.1:p.Ala228Thr

Select item 147829300314.

rs1478293003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69005410 (GRCh38)
11:68772878 (GRCh37)
Canonical SPDI:: NC_000011.10:69005409:C:T
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.69005410C>T, NC_000011.9:g.68772878C>T, NM_145015.5:c.900G>A, NM_145015.4:c.900G>A, XM_017017170.2:c.900G>A, XM_017017170.1:c.900G>A, XM_024448339.2:c.900G>A, XM_024448339.1:c.900G>A, NM_001098515.2:c.900G>A, NM_001098515.1:c.900G>A

Select item 147711920415.

rs1477119204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:69005917 (GRCh38)
11:68773385 (GRCh37)
Canonical SPDI:: NC_000011.10:69005916:C:T
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.69005917C>T, NC_000011.9:g.68773385C>T, NM_145015.5:c.393G>A, NM_145015.4:c.393G>A, XM_017017170.2:c.393G>A, XM_017017170.1:c.393G>A, XM_024448339.2:c.393G>A, XM_024448339.1:c.393G>A, NM_001098515.2:c.393G>A, NM_001098515.1:c.393G>A

Select item 147643138016.

rs1476431380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:69005464 (GRCh38)
11:68772932 (GRCh37)
Canonical SPDI:: NC_000011.10:69005463:G:A,NC_000011.10:69005463:G:C
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000685/2 (KOREAN)
HGVS:: NC_000011.10:g.69005464G>A, NC_000011.10:g.69005464G>C, NC_000011.9:g.68772932G>A, NC_000011.9:g.68772932G>C, NM_145015.5:c.846C>T, NM_145015.5:c.846C>G, NM_145015.4:c.846C>T, NM_145015.4:c.846C>G, XM_017017170.2:c.846C>T, XM_017017170.2:c.846C>G, XM_017017170.1:c.846C>T, XM_017017170.1:c.846C>G, XM_024448339.2:c.846C>T, XM_024448339.2:c.846C>G, XM_024448339.1:c.846C>T, XM_024448339.1:c.846C>G, NM_001098515.2:c.846C>T, NM_001098515.2:c.846C>G, NM_001098515.1:c.846C>T, NM_001098515.1:c.846C>G, NP_659452.3:p.Ile282Met, XP_016872659.1:p.Ile282Met, XP_024304107.1:p.Ile282Met, NP_001091985.1:p.Ile282Met

Select item 147252005217.

rs1472520052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:69005907 (GRCh38)
11:68773375 (GRCh37)
Canonical SPDI:: NC_000011.10:69005906:G:C
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69005907G>C, NC_000011.9:g.68773375G>C, NM_145015.5:c.403C>G, NM_145015.4:c.403C>G, XM_017017170.2:c.403C>G, XM_017017170.1:c.403C>G, XM_024448339.2:c.403C>G, XM_024448339.1:c.403C>G, NM_001098515.2:c.403C>G, NM_001098515.1:c.403C>G, NP_659452.3:p.Pro135Ala, XP_016872659.1:p.Pro135Ala, XP_024304107.1:p.Pro135Ala, NP_001091985.1:p.Pro135Ala

Select item 147065775618.

rs1470657756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:69005601 (GRCh38)
11:68773069 (GRCh37)
Canonical SPDI:: NC_000011.10:69005600:G:A
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.69005601G>A, NC_000011.9:g.68773069G>A, NM_145015.5:c.709C>T, NM_145015.4:c.709C>T, XM_017017170.2:c.709C>T, XM_017017170.1:c.709C>T, XM_024448339.2:c.709C>T, XM_024448339.1:c.709C>T, NM_001098515.2:c.709C>T, NM_001098515.1:c.709C>T, NP_659452.3:p.Leu237Phe, XP_016872659.1:p.Leu237Phe, XP_024304107.1:p.Leu237Phe, NP_001091985.1:p.Leu237Phe

Select item 147018798619.

rs1470187986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:69005946 (GRCh38)
11:68773414 (GRCh37)
Canonical SPDI:: NC_000011.10:69005945:G:C
Gene:: MRGPRF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.69005946G>C, NC_000011.9:g.68773414G>C, NM_145015.5:c.364C>G, NM_145015.4:c.364C>G, XM_017017170.2:c.364C>G, XM_017017170.1:c.364C>G, XM_024448339.2:c.364C>G, XM_024448339.1:c.364C>G, NM_001098515.2:c.364C>G, NM_001098515.1:c.364C>G, NP_659452.3:p.Leu122Val, XP_016872659.1:p.Leu122Val, XP_024304107.1:p.Leu122Val, NP_001091985.1:p.Leu122Val

Select item 146827800220.

rs1468278002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:69005347 (GRCh38)
11:68772815 (GRCh37)
Canonical SPDI:: NC_000011.10:69005346:C:G
Gene:: MRGPRF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.69005347C>G, NC_000011.9:g.68772815C>G, NM_145015.5:c.963G>C, NM_145015.4:c.963G>C, XM_017017170.2:c.963G>C, XM_017017170.1:c.963G>C, XM_024448339.2:c.963G>C, XM_024448339.1:c.963G>C, NM_001098515.2:c.963G>C, NM_001098515.1:c.963G>C

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