SNP Links for Protein (Select 557948093) - SNP

Links from Protein

Items: 1 to 20 of 432

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Select item 14894091091.

rs1489409109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:72221122 (GRCh38)
5:71516949 (GRCh37)
Canonical SPDI:: NC_000005.10:72221121:C:T
Gene:: MRPS27 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.72221122C>T, NC_000005.9:g.71516949C>T, NM_015084.3:c.1032G>A, NM_015084.2:c.1032G>A, NM_001286748.2:c.1074G>A, NM_001286748.1:c.1074G>A, NM_001286751.2:c.864G>A, NM_001286751.1:c.864G>A

Select item 14854811862.

rs1485481186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:72234126 (GRCh38)
5:71529953 (GRCh37)
Canonical SPDI:: NC_000005.10:72234125:A:G
Gene:: MRPS27 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.72234126A>G, NC_000005.9:g.71529953A>G, NM_015084.3:c.468T>C, NM_015084.2:c.468T>C, NM_001286748.2:c.510T>C, NM_001286748.1:c.510T>C, NM_001286751.2:c.300T>C, NM_001286751.1:c.300T>C

Select item 14846738543.

rs1484673854 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:72223694 (GRCh38)
5:71519521 (GRCh37)
Canonical SPDI:: NC_000005.10:72223693:CC:C
Gene:: MRPS27 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72223695del, NC_000005.9:g.71519522del, NM_015084.3:c.994del, NM_015084.2:c.994del, NM_001286748.2:c.1036del, NM_001286748.1:c.1036del, NM_001286751.2:c.826del, NM_001286751.1:c.826del, NP_055899.2:p.Glu332fs, NP_001273677.1:p.Glu346fs, NP_001273680.1:p.Glu276fs

Select item 14844613854.

rs1484461385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:72320208 (GRCh38)
5:71616035 (GRCh37)
Canonical SPDI:: NC_000005.10:72320207:A:G
Gene:: MRPS27 (Varview), PTCD2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000062/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.72320208A>G, NC_000005.9:g.71616035A>G, NM_015084.3:c.14T>C, NM_015084.2:c.14T>C, NM_001286748.2:c.14T>C, NM_001286748.1:c.14T>C, NM_001286751.2:c.-123T>C, NM_001286751.1:c.-123T>C, NP_055899.2:p.Ile5Thr, NP_001273677.1:p.Ile5Thr

Select item 14752879075.

rs1475287907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:72314122 (GRCh38)
5:71609949 (GRCh37)
Canonical SPDI:: NC_000005.10:72314121:C:T
Gene:: MRPS27 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.72314122C>T, NC_000005.9:g.71609949C>T, NM_015084.3:c.110G>A, NM_015084.2:c.110G>A, NM_001286748.2:c.110G>A, NM_001286748.1:c.110G>A, NM_001286751.2:c.-59G>A, NM_001286751.1:c.-59G>A, NP_055899.2:p.Ser37Asn, NP_001273677.1:p.Ser37Asn

Select item 14749494146.

rs1474949414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:72223720 (GRCh38)
5:71519547 (GRCh37)
Canonical SPDI:: NC_000005.10:72223719:T:C
Gene:: MRPS27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00014/2 (TOMMO)
HGVS:: NC_000005.10:g.72223720T>C, NC_000005.9:g.71519547T>C, NM_015084.3:c.968A>G, NM_015084.2:c.968A>G, NM_001286748.2:c.1010A>G, NM_001286748.1:c.1010A>G, NM_001286751.2:c.800A>G, NM_001286751.1:c.800A>G, NP_055899.2:p.Glu323Gly, NP_001273677.1:p.Glu337Gly, NP_001273680.1:p.Glu267Gly

Select item 14731077447.

rs1473107744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:72232493 (GRCh38)
5:71528320 (GRCh37)
Canonical SPDI:: NC_000005.10:72232492:G:A
Gene:: MRPS27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.72232493G>A, NC_000005.9:g.71528320G>A, NM_015084.3:c.541C>T, NM_015084.2:c.541C>T, NM_001286748.2:c.583C>T, NM_001286748.1:c.583C>T, NM_001286751.2:c.373C>T, NM_001286751.1:c.373C>T, NP_055899.2:p.Leu181Phe, NP_001273677.1:p.Leu195Phe, NP_001273680.1:p.Leu125Phe

Select item 14728540428.

rs1472854042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:72223774 (GRCh38)
5:71519601 (GRCh37)
Canonical SPDI:: NC_000005.10:72223773:T:G
Gene:: MRPS27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.72223774T>G, NC_000005.9:g.71519601T>G, NM_015084.3:c.914A>C, NM_015084.2:c.914A>C, NM_001286748.2:c.956A>C, NM_001286748.1:c.956A>C, NM_001286751.2:c.746A>C, NM_001286751.1:c.746A>C, NP_055899.2:p.Glu305Ala, NP_001273677.1:p.Glu319Ala, NP_001273680.1:p.Glu249Ala

Select item 14677815989.

rs1467781598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:72295545 (GRCh38)
5:71591372 (GRCh37)
Canonical SPDI:: NC_000005.10:72295544:C:T
Gene:: MRPS27 (Varview), LOC107986422 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.72295545C>T, NC_000005.9:g.71591372C>T, NM_015084.3:c.267G>A, NM_015084.2:c.267G>A, NM_001286748.2:c.267G>A, NM_001286748.1:c.267G>A, NM_001286751.2:c.99G>A, NM_001286751.1:c.99G>A

Select item 146553820710.

rs1465538207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:72221131 (GRCh38)
5:71516958 (GRCh37)
Canonical SPDI:: NC_000005.10:72221130:A:T
Gene:: MRPS27 (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_000005.10:g.72221131A>T, NC_000005.9:g.71516958A>T, NM_015084.3:c.1023T>A, NM_015084.2:c.1023T>A, NM_001286748.2:c.1065T>A, NM_001286748.1:c.1065T>A, NM_001286751.2:c.855T>A, NM_001286751.1:c.855T>A

Select item 146357972711.

rs1463579727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:72241669 (GRCh38)
5:71537496 (GRCh37)
Canonical SPDI:: NC_000005.10:72241668:T:C
Gene:: MRPS27 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.72241669T>C, NC_000005.9:g.71537496T>C, NM_001286748.2:c.301A>G, NM_001286748.1:c.301A>G, NP_001273677.1:p.Ser101Gly

Select item 145854960612.

rs1458549606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:72297638 (GRCh38)
5:71593465 (GRCh37)
Canonical SPDI:: NC_000005.10:72297637:T:C
Gene:: MRPS27 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.72297638T>C, NC_000005.9:g.71593465T>C, NM_015084.3:c.216A>G, NM_015084.2:c.216A>G, NM_001286748.2:c.216A>G, NM_001286748.1:c.216A>G, NM_001286751.2:c.48A>G, NM_001286751.1:c.48A>G, NP_055899.2:p.Ile72Met, NP_001273677.1:p.Ile72Met, NP_001273680.1:p.Ile16Met

Select item 145771384413.

rs1457713844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:72223831 (GRCh38)
5:71519658 (GRCh37)
Canonical SPDI:: NC_000005.10:72223830:A:G
Gene:: MRPS27 (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_000005.10:g.72223831A>G, NC_000005.9:g.71519658A>G, NM_015084.3:c.857T>C, NM_015084.2:c.857T>C, NM_001286748.2:c.899T>C, NM_001286748.1:c.899T>C, NM_001286751.2:c.689T>C, NM_001286751.1:c.689T>C, NP_055899.2:p.Val286Ala, NP_001273677.1:p.Val300Ala, NP_001273680.1:p.Val230Ala

Select item 145687877714.

rs1456878777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:72226097 (GRCh38)
5:71521924 (GRCh37)
Canonical SPDI:: NC_000005.10:72226096:A:G
Gene:: MRPS27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72226097A>G, NC_000005.9:g.71521924A>G, NM_015084.3:c.797T>C, NM_015084.2:c.797T>C, NM_001286748.2:c.839T>C, NM_001286748.1:c.839T>C, NM_001286751.2:c.629T>C, NM_001286751.1:c.629T>C, NP_055899.2:p.Val266Ala, NP_001273677.1:p.Val280Ala, NP_001273680.1:p.Val210Ala

Select item 145574519915.

rs1455745199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:72238030 (GRCh38)
5:71533857 (GRCh37)
Canonical SPDI:: NC_000005.10:72238029:T:C
Gene:: MRPS27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.72238030T>C, NC_000005.9:g.71533857T>C, NM_015084.3:c.380A>G, NM_015084.2:c.380A>G, NM_001286748.2:c.422A>G, NM_001286748.1:c.422A>G, NM_001286751.2:c.212A>G, NM_001286751.1:c.212A>G, NP_055899.2:p.Tyr127Cys, NP_001273677.1:p.Tyr141Cys, NP_001273680.1:p.Tyr71Cys

Select item 145478956016.

rs1454789560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:72314109 (GRCh38)
5:71609936 (GRCh37)
Canonical SPDI:: NC_000005.10:72314108:T:A
Gene:: MRPS27 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72314109T>A, NC_000005.9:g.71609936T>A, NM_015084.3:c.123A>T, NM_015084.2:c.123A>T, NM_001286748.2:c.123A>T, NM_001286748.1:c.123A>T, NM_001286751.2:c.-46A>T, NM_001286751.1:c.-46A>T, NP_055899.2:p.Glu41Asp, NP_001273677.1:p.Glu41Asp

Select item 145403038717.

rs1454030387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:72295586 (GRCh38)
5:71591413 (GRCh37)
Canonical SPDI:: NC_000005.10:72295585:T:C
Gene:: MRPS27 (Varview), LOC107986422 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.72295586T>C, NC_000005.9:g.71591413T>C, NM_015084.3:c.226A>G, NM_015084.2:c.226A>G, NM_001286748.2:c.226A>G, NM_001286748.1:c.226A>G, NM_001286751.2:c.58A>G, NM_001286751.1:c.58A>G, NP_055899.2:p.Ile76Val, NP_001273677.1:p.Ile76Val, NP_001273680.1:p.Ile20Val

Select item 145386064218.

rs1453860642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:72320183 (GRCh38)
5:71616010 (GRCh37)
Canonical SPDI:: NC_000005.10:72320182:C:A,NC_000005.10:72320182:C:T
Gene:: MRPS27 (Varview), PTCD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.72320183C>A, NC_000005.10:g.72320183C>T, NC_000005.9:g.71616010C>A, NC_000005.9:g.71616010C>T, NM_015084.3:c.39G>T, NM_015084.3:c.39G>A, NM_015084.2:c.39G>T, NM_015084.2:c.39G>A, NM_001286748.2:c.39G>T, NM_001286748.2:c.39G>A, NM_001286748.1:c.39G>T, NM_001286748.1:c.39G>A, NM_001286751.2:c.-98G>T, NM_001286751.2:c.-98G>A, NM_001286751.1:c.-98G>T, NM_001286751.1:c.-98G>A

Select item 145384033619.

rs1453840336 [Homo sapiens]

Variant type:: DEL
Alleles:: TTT>- [Show Flanks]
Chromosome:: 5:72238093 (GRCh38)
5:71533920 (GRCh37)
Canonical SPDI:: NC_000005.10:72238092:TTT:
Gene:: MRPS27 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.72238093_72238095del, NC_000005.9:g.71533920_71533922del, NM_015084.3:c.315_317del, NM_015084.2:c.315_317del, NM_001286748.2:c.357_359del, NM_001286748.1:c.357_359del, NM_001286751.2:c.147_149del, NM_001286751.1:c.147_149del, NP_055899.2:p.Arg105_Asn106delinsSer, NP_001273677.1:p.Arg119_Asn120delinsSer, NP_001273680.1:p.Arg49_Asn50delinsSer

Select item 145071887320.

rs1450718873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:72223701 (GRCh38)
5:71519528 (GRCh37)
Canonical SPDI:: NC_000005.10:72223700:T:C
Gene:: MRPS27 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.72223701T>C, NC_000005.9:g.71519528T>C, NM_015084.3:c.987A>G, NM_015084.2:c.987A>G, NM_001286748.2:c.1029A>G, NM_001286748.1:c.1029A>G, NM_001286751.2:c.819A>G, NM_001286751.1:c.819A>G

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