SNP Links for Protein (Select 145580602) - SNP

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Links from Protein

Items: 1 to 20 of 379

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Select item 14866071721.

rs1486607172 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 4:117085076 (GRCh38)
4:118006232 (GRCh37)
Canonical SPDI:: NC_000004.12:117085073:TTGTT:TT
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: intron_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.117085076_117085078del, NC_000004.11:g.118006232_118006234del, NM_152402.3:c.318_320del, NM_152402.2:c.318_320del, NP_689615.2:p.Asn106del

Select item 14864195092.

rs1486419509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:117085335 (GRCh38)
4:118006491 (GRCh37)
Canonical SPDI:: NC_000004.12:117085334:A:G
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.117085335A>G, NC_000004.11:g.118006491A>G, NM_152402.3:c.59T>C, NM_152402.2:c.59T>C, NP_689615.2:p.Leu20Pro

Select item 14849735173.

rs1484973517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:117084685 (GRCh38)
4:118005841 (GRCh37)
Canonical SPDI:: NC_000004.12:117084684:C:T
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.117084685C>T, NC_000004.11:g.118005841C>T, NM_152402.3:c.709G>A, NM_152402.2:c.709G>A, NP_689615.2:p.Gly237Ser

Select item 14839794754.

rs1483979475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:117085187 (GRCh38)
4:118006343 (GRCh37)
Canonical SPDI:: NC_000004.12:117085186:T:G
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000004.12:g.117085187T>G, NC_000004.11:g.118006343T>G, NM_152402.3:c.207A>C, NM_152402.2:c.207A>C

Select item 14780141105.

rs1478014110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:117085212 (GRCh38)
4:118006368 (GRCh37)
Canonical SPDI:: NC_000004.12:117085211:G:A
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.117085212G>A, NC_000004.11:g.118006368G>A, NM_152402.3:c.182C>T, NM_152402.2:c.182C>T, NP_689615.2:p.Ala61Val

Select item 14777890886.

rs1477789088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:117085339 (GRCh38)
4:118006495 (GRCh37)
Canonical SPDI:: NC_000004.12:117085338:T:A
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.117085339T>A, NC_000004.11:g.118006495T>A, NM_152402.3:c.55A>T, NM_152402.2:c.55A>T, NP_689615.2:p.Ile19Phe

Select item 14745267277.

rs1474526727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:117084618 (GRCh38)
4:118005774 (GRCh37)
Canonical SPDI:: NC_000004.12:117084617:A:G
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.117084618A>G, NC_000004.11:g.118005774A>G, NM_152402.3:c.776T>C, NM_152402.2:c.776T>C, NP_689615.2:p.Leu259Ser

Select item 14735638338.

rs1473563833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:117084386 (GRCh38)
4:118005542 (GRCh37)
Canonical SPDI:: NC_000004.12:117084385:C:A
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000004.12:g.117084386C>A, NC_000004.11:g.118005542C>A, NM_152402.3:c.1008G>T, NM_152402.2:c.1008G>T, NP_689615.2:p.Lys336Asn

Select item 14726353059.

rs1472635305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:117084506 (GRCh38)
4:118005662 (GRCh37)
Canonical SPDI:: NC_000004.12:117084505:A:G,NC_000004.12:117084505:A:T
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.117084506A>G, NC_000004.12:g.117084506A>T, NC_000004.11:g.118005662A>G, NC_000004.11:g.118005662A>T, NM_152402.3:c.888T>C, NM_152402.3:c.888T>A, NM_152402.2:c.888T>C, NM_152402.2:c.888T>A

Select item 147234760510.

rs1472347605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:117084397 (GRCh38)
4:118005553 (GRCh37)
Canonical SPDI:: NC_000004.12:117084396:A:C
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.117084397A>C, NC_000004.11:g.118005553A>C, NM_152402.3:c.997T>G, NM_152402.2:c.997T>G, NP_689615.2:p.Cys333Gly

Select item 147122028911.

rs1471220289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:117084696 (GRCh38)
4:118005852 (GRCh37)
Canonical SPDI:: NC_000004.12:117084695:G:A,NC_000004.12:117084695:G:C
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.117084696G>A, NC_000004.12:g.117084696G>C, NC_000004.11:g.118005852G>A, NC_000004.11:g.118005852G>C, NM_152402.3:c.698C>T, NM_152402.3:c.698C>G, NM_152402.2:c.698C>T, NM_152402.2:c.698C>G, NP_689615.2:p.Ser233Phe, NP_689615.2:p.Ser233Cys

Select item 146900574812.

rs1469005748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:117084855 (GRCh38)
4:118006011 (GRCh37)
Canonical SPDI:: NC_000004.12:117084854:A:G
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.117084855A>G, NC_000004.11:g.118006011A>G, NM_152402.3:c.539T>C, NM_152402.2:c.539T>C, NP_689615.2:p.Phe180Ser

Select item 146678604313.

rs1466786043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:117084508 (GRCh38)
4:118005664 (GRCh37)
Canonical SPDI:: NC_000004.12:117084507:C:G,NC_000004.12:117084507:C:T
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.117084508C>G, NC_000004.12:g.117084508C>T, NC_000004.11:g.118005664C>G, NC_000004.11:g.118005664C>T, NM_152402.3:c.886G>C, NM_152402.3:c.886G>A, NM_152402.2:c.886G>C, NM_152402.2:c.886G>A, NP_689615.2:p.Ala296Pro, NP_689615.2:p.Ala296Thr

Select item 146252213514.

rs1462522135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:117084901 (GRCh38)
4:118006057 (GRCh37)
Canonical SPDI:: NC_000004.12:117084900:T:C,NC_000004.12:117084900:T:G
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.117084901T>C, NC_000004.12:g.117084901T>G, NC_000004.11:g.118006057T>C, NC_000004.11:g.118006057T>G, NM_152402.3:c.493A>G, NM_152402.3:c.493A>C, NM_152402.2:c.493A>G, NM_152402.2:c.493A>C, NP_689615.2:p.Met165Val, NP_689615.2:p.Met165Leu

Select item 146006422215.

rs1460064222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:117085350 (GRCh38)
4:118006506 (GRCh37)
Canonical SPDI:: NC_000004.12:117085349:C:G,NC_000004.12:117085349:C:T
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.117085350C>G, NC_000004.12:g.117085350C>T, NC_000004.11:g.118006506C>G, NC_000004.11:g.118006506C>T, NM_152402.3:c.44G>C, NM_152402.3:c.44G>A, NM_152402.2:c.44G>C, NM_152402.2:c.44G>A, NP_689615.2:p.Ser15Thr, NP_689615.2:p.Ser15Asn

Select item 145997892216.

rs1459978922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:117084549 (GRCh38)
4:118005705 (GRCh37)
Canonical SPDI:: NC_000004.12:117084548:C:T
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.117084549C>T, NC_000004.11:g.118005705C>T, NM_152402.3:c.845G>A, NM_152402.2:c.845G>A, NP_689615.2:p.Arg282Gln

Select item 145739837917.

rs1457398379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:117084640 (GRCh38)
4:118005796 (GRCh37)
Canonical SPDI:: NC_000004.12:117084639:G:C
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: intron_variant,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_000004.12:g.117084640G>C, NC_000004.11:g.118005796G>C, NM_152402.3:c.754C>G, NM_152402.2:c.754C>G, NP_689615.2:p.Leu252Val

Select item 145487007318.

rs1454870073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:117084769 (GRCh38)
4:118005925 (GRCh37)
Canonical SPDI:: NC_000004.12:117084768:C:T
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.117084769C>T, NC_000004.11:g.118005925C>T, NM_152402.3:c.625G>A, NM_152402.2:c.625G>A, NP_689615.2:p.Gly209Arg

Select item 145401461319.

rs1454014613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:117084876 (GRCh38)
4:118006032 (GRCh37)
Canonical SPDI:: NC_000004.12:117084875:A:T
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.117084876A>T, NC_000004.11:g.118006032A>T, NM_152402.3:c.518T>A, NM_152402.2:c.518T>A, NP_689615.2:p.Leu173Ter

Select item 145262420020.

rs1452624200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:117085120 (GRCh38)
4:118006276 (GRCh37)
Canonical SPDI:: NC_000004.12:117085119:T:C
Gene:: TRAM1L1 (Varview), LOC105377388 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.117085120T>C, NC_000004.11:g.118006276T>C, NM_152402.3:c.274A>G, NM_152402.2:c.274A>G, NP_689615.2:p.Ile92Val

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