SNP Links for Protein (Select 156151381) - SNP

Links from Protein

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Select item 14862879381.

rs1486287938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:63838055 (GRCh38)
3:63823731 (GRCh37)
Canonical SPDI:: NC_000003.12:63838054:G:A
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.63838055G>A, NC_000003.11:g.63823731G>A, XM_006713339.4:c.117C>T, XM_006713339.3:c.117C>T, XM_006713339.2:c.117C>T, XM_006713339.1:c.117C>T, NM_025075.4:c.273C>T, NM_025075.3:c.273C>T, NM_025075.2:c.273C>T, NM_001285387.3:c.117C>T, NM_001285387.2:c.117C>T, NM_001285387.1:c.117C>T, NM_001285404.2:c.117C>T, NM_001285404.1:c.117C>T

Select item 14862213212.

rs1486221321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:63838382 (GRCh38)
3:63824058 (GRCh37)
Canonical SPDI:: NC_000003.12:63838381:G:A
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.63838382G>A, NC_000003.11:g.63824058G>A, XM_006713339.4:c.99C>T, XM_006713339.3:c.99C>T, XM_006713339.2:c.99C>T, XM_006713339.1:c.99C>T, NM_025075.4:c.255C>T, NM_025075.3:c.255C>T, NM_025075.2:c.255C>T, NM_001285387.3:c.99C>T, NM_001285387.2:c.99C>T, NM_001285387.1:c.99C>T, NM_001285404.2:c.99C>T, NM_001285404.1:c.99C>T

Select item 14767984783.

rs1476798478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:63838450 (GRCh38)
3:63824126 (GRCh37)
Canonical SPDI:: NC_000003.12:63838449:A:C
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.63838450A>C, NC_000003.11:g.63824126A>C, XM_006713339.4:c.31T>G, XM_006713339.3:c.31T>G, XM_006713339.2:c.31T>G, XM_006713339.1:c.31T>G, NM_025075.4:c.187T>G, NM_025075.3:c.187T>G, NM_025075.2:c.187T>G, NM_001285387.3:c.31T>G, NM_001285387.2:c.31T>G, NM_001285387.1:c.31T>G, NM_001285404.2:c.31T>G, NM_001285404.1:c.31T>G, XP_006713402.1:p.Ser11Ala, NP_079351.2:p.Ser63Ala, NP_001272316.1:p.Ser11Ala, NP_001272333.1:p.Ser11Ala

Select item 14765014064.

rs1476501406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:63834143 (GRCh38)
3:63819819 (GRCh37)
Canonical SPDI:: NC_000003.12:63834142:G:C
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.63834143G>C, NC_000003.11:g.63819819G>C, XM_006713339.4:c.448C>G, XM_006713339.3:c.448C>G, XM_006713339.2:c.448C>G, XM_006713339.1:c.448C>G, NM_025075.4:c.604C>G, NM_025075.3:c.604C>G, NM_025075.2:c.604C>G, NM_001285387.3:c.448C>G, NM_001285387.2:c.448C>G, NM_001285387.1:c.448C>G, NM_001285404.2:c.448C>G, NM_001285404.1:c.448C>G, XP_006713402.1:p.Pro150Ala, NP_079351.2:p.Pro202Ala, NP_001272316.1:p.Pro150Ala, NP_001272333.1:p.Pro150Ala

Select item 14727510255.

rs1472751025 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 3:63838423 (GRCh38)
3:63824099 (GRCh37)
Canonical SPDI:: NC_000003.12:63838422:C:
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.63838423del, NC_000003.11:g.63824099del, XM_006713339.4:c.58del, XM_006713339.3:c.58del, XM_006713339.2:c.58del, XM_006713339.1:c.58del, NM_025075.4:c.214del, NM_025075.3:c.214del, NM_025075.2:c.214del, NM_001285387.3:c.58del, NM_001285387.2:c.58del, NM_001285387.1:c.58del, NM_001285404.2:c.58del, NM_001285404.1:c.58del, XP_006713402.1:p.Asp20fs, NP_079351.2:p.Asp72fs, NP_001272316.1:p.Asp20fs, NP_001272333.1:p.Asp20fs

Select item 14643964346.

rs1464396434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:63838408 (GRCh38)
3:63824084 (GRCh37)
Canonical SPDI:: NC_000003.12:63838407:C:A
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: stop_gained,intron_variant,genic_downstream_transcript_variant,coding_sequence_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_000003.12:g.63838408C>A, NC_000003.11:g.63824084C>A, XM_006713339.4:c.73G>T, XM_006713339.3:c.73G>T, XM_006713339.2:c.73G>T, XM_006713339.1:c.73G>T, NM_025075.4:c.229G>T, NM_025075.3:c.229G>T, NM_025075.2:c.229G>T, NM_001285387.3:c.73G>T, NM_001285387.2:c.73G>T, NM_001285387.1:c.73G>T, NM_001285404.2:c.73G>T, NM_001285404.1:c.73G>T, XP_006713402.1:p.Glu25Ter, NP_079351.2:p.Glu77Ter, NP_001272316.1:p.Glu25Ter, NP_001272333.1:p.Glu25Ter

Select item 14546988937.

rs1454698893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:63838494 (GRCh38)
3:63824170 (GRCh37)
Canonical SPDI:: NC_000003.12:63838493:C:T
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.63838494C>T, NC_000003.11:g.63824170C>T, XM_006713339.4:c.-14G>A, XM_006713339.3:c.-14G>A, XM_006713339.2:c.-14G>A, XM_006713339.1:c.-14G>A, NM_025075.4:c.143G>A, NM_025075.3:c.143G>A, NM_025075.2:c.143G>A, NM_001285387.3:c.-14G>A, NM_001285387.2:c.-14G>A, NM_001285387.1:c.-14G>A, NM_001285404.2:c.-14G>A, NM_001285404.1:c.-14G>A, NP_079351.2:p.Ser48Asn

Select item 14544901748.

rs1454490174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:63835210 (GRCh38)
3:63820886 (GRCh37)
Canonical SPDI:: NC_000003.12:63835209:C:T
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.63835210C>T, NC_000003.11:g.63820886C>T, XM_006713339.4:c.335G>A, XM_006713339.3:c.335G>A, XM_006713339.2:c.335G>A, XM_006713339.1:c.335G>A, NM_025075.4:c.491G>A, NM_025075.3:c.491G>A, NM_025075.2:c.491G>A, NM_001285387.3:c.335G>A, NM_001285387.2:c.335G>A, NM_001285387.1:c.335G>A, NM_001285404.2:c.335G>A, NM_001285404.1:c.335G>A, XP_006713402.1:p.Arg112Gln, NP_079351.2:p.Arg164Gln, NP_001272316.1:p.Arg112Gln, NP_001272333.1:p.Arg112Gln

Select item 14472018809.

rs1447201880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:63838446 (GRCh38)
3:63824122 (GRCh37)
Canonical SPDI:: NC_000003.12:63838445:A:G
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.63838446A>G, NC_000003.11:g.63824122A>G, XM_006713339.4:c.35T>C, XM_006713339.3:c.35T>C, XM_006713339.2:c.35T>C, XM_006713339.1:c.35T>C, NM_025075.4:c.191T>C, NM_025075.3:c.191T>C, NM_025075.2:c.191T>C, NM_001285387.3:c.35T>C, NM_001285387.2:c.35T>C, NM_001285387.1:c.35T>C, NM_001285404.2:c.35T>C, NM_001285404.1:c.35T>C, XP_006713402.1:p.Met12Thr, NP_079351.2:p.Met64Thr, NP_001272316.1:p.Met12Thr, NP_001272333.1:p.Met12Thr

Select item 143744190610.

rs1437441906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:63835380 (GRCh38)
3:63821056 (GRCh37)
Canonical SPDI:: NC_000003.12:63835379:C:A,NC_000003.12:63835379:C:T
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.63835380C>A, NC_000003.12:g.63835380C>T, NC_000003.11:g.63821056C>A, NC_000003.11:g.63821056C>T, XM_006713339.4:c.265G>T, XM_006713339.4:c.265G>A, XM_006713339.3:c.265G>T, XM_006713339.3:c.265G>A, XM_006713339.2:c.265G>T, XM_006713339.2:c.265G>A, XM_006713339.1:c.265G>T, XM_006713339.1:c.265G>A, NM_025075.4:c.421G>T, NM_025075.4:c.421G>A, NM_025075.3:c.421G>T, NM_025075.3:c.421G>A, NM_025075.2:c.421G>T, NM_025075.2:c.421G>A, NM_001285387.3:c.265G>T, NM_001285387.3:c.265G>A, NM_001285387.2:c.265G>T, NM_001285387.2:c.265G>A, NM_001285387.1:c.265G>T, NM_001285387.1:c.265G>A, NM_001285404.2:c.265G>T, NM_001285404.2:c.265G>A, NM_001285404.1:c.265G>T, NM_001285404.1:c.265G>A, XP_006713402.1:p.Ala89Ser, XP_006713402.1:p.Ala89Thr, NP_079351.2:p.Ala141Ser, NP_079351.2:p.Ala141Thr, NP_001272316.1:p.Ala89Ser, NP_001272316.1:p.Ala89Thr, NP_001272333.1:p.Ala89Ser, NP_001272333.1:p.Ala89Thr

Select item 143515115511.

rs1435151155 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:63838440 (GRCh38)
3:63824116 (GRCh37)
Canonical SPDI:: NC_000003.12:63838439:T:C
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.63838440T>C, NC_000003.11:g.63824116T>C, XM_006713339.4:c.41A>G, XM_006713339.3:c.41A>G, XM_006713339.2:c.41A>G, XM_006713339.1:c.41A>G, NM_025075.4:c.197A>G, NM_025075.3:c.197A>G, NM_025075.2:c.197A>G, NM_001285387.3:c.41A>G, NM_001285387.2:c.41A>G, NM_001285387.1:c.41A>G, NM_001285404.2:c.41A>G, NM_001285404.1:c.41A>G, XP_006713402.1:p.Lys14Arg, NP_079351.2:p.Lys66Arg, NP_001272316.1:p.Lys14Arg, NP_001272333.1:p.Lys14Arg

Select item 142128651712.

rs1421286517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:63837990 (GRCh38)
3:63823666 (GRCh37)
Canonical SPDI:: NC_000003.12:63837989:C:T
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.63837990C>T, NC_000003.11:g.63823666C>T, XM_006713339.4:c.182G>A, XM_006713339.3:c.182G>A, XM_006713339.2:c.182G>A, XM_006713339.1:c.182G>A, NM_025075.4:c.338G>A, NM_025075.3:c.338G>A, NM_025075.2:c.338G>A, NM_001285387.3:c.182G>A, NM_001285387.2:c.182G>A, NM_001285387.1:c.182G>A, NM_001285404.2:c.182G>A, NM_001285404.1:c.182G>A, XP_006713402.1:p.Arg61Gln, NP_079351.2:p.Arg113Gln, NP_001272316.1:p.Arg61Gln, NP_001272333.1:p.Arg61Gln

Select item 141613838913.

rs1416138389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:63834160 (GRCh38)
3:63819836 (GRCh37)
Canonical SPDI:: NC_000003.12:63834159:G:C
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.63834160G>C, NC_000003.11:g.63819836G>C, XM_006713339.4:c.431C>G, XM_006713339.3:c.431C>G, XM_006713339.2:c.431C>G, XM_006713339.1:c.431C>G, NM_025075.4:c.587C>G, NM_025075.3:c.587C>G, NM_025075.2:c.587C>G, NM_001285387.3:c.431C>G, NM_001285387.2:c.431C>G, NM_001285387.1:c.431C>G, NM_001285404.2:c.431C>G, NM_001285404.1:c.431C>G, XP_006713402.1:p.Ala144Gly, NP_079351.2:p.Ala196Gly, NP_001272316.1:p.Ala144Gly, NP_001272333.1:p.Ala144Gly

Select item 140822465914.

rs1408224659 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:63838431 (GRCh38)
3:63824107 (GRCh37)
Canonical SPDI:: NC_000003.12:63838430:A:G
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000248/4 (TOMMO)
HGVS:: NC_000003.12:g.63838431A>G, NC_000003.11:g.63824107A>G, XM_006713339.4:c.50T>C, XM_006713339.3:c.50T>C, XM_006713339.2:c.50T>C, XM_006713339.1:c.50T>C, NM_025075.4:c.206T>C, NM_025075.3:c.206T>C, NM_025075.2:c.206T>C, NM_001285387.3:c.50T>C, NM_001285387.2:c.50T>C, NM_001285387.1:c.50T>C, NM_001285404.2:c.50T>C, NM_001285404.1:c.50T>C, XP_006713402.1:p.Leu17Pro, NP_079351.2:p.Leu69Pro, NP_001272316.1:p.Leu17Pro, NP_001272333.1:p.Leu17Pro

Select item 139054829815.

rs1390548298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:63835211 (GRCh38)
3:63820887 (GRCh37)
Canonical SPDI:: NC_000003.12:63835210:G:A,NC_000003.12:63835210:G:T
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.63835211G>A, NC_000003.12:g.63835211G>T, NC_000003.11:g.63820887G>A, NC_000003.11:g.63820887G>T, XM_006713339.4:c.334C>T, XM_006713339.4:c.334C>A, XM_006713339.3:c.334C>T, XM_006713339.3:c.334C>A, XM_006713339.2:c.334C>T, XM_006713339.2:c.334C>A, XM_006713339.1:c.334C>T, XM_006713339.1:c.334C>A, NM_025075.4:c.490C>T, NM_025075.4:c.490C>A, NM_025075.3:c.490C>T, NM_025075.3:c.490C>A, NM_025075.2:c.490C>T, NM_025075.2:c.490C>A, NM_001285387.3:c.334C>T, NM_001285387.3:c.334C>A, NM_001285387.2:c.334C>T, NM_001285387.2:c.334C>A, NM_001285387.1:c.334C>T, NM_001285387.1:c.334C>A, NM_001285404.2:c.334C>T, NM_001285404.2:c.334C>A, NM_001285404.1:c.334C>T, NM_001285404.1:c.334C>A, XP_006713402.1:p.Arg112Trp, NP_079351.2:p.Arg164Trp, NP_001272316.1:p.Arg112Trp, NP_001272333.1:p.Arg112Trp

Select item 138771075016.

rs1387710750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:63838016 (GRCh38)
3:63823692 (GRCh37)
Canonical SPDI:: NC_000003.12:63838015:C:T
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_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_000003.12:g.63838016C>T, NC_000003.11:g.63823692C>T, XM_006713339.4:c.156G>A, XM_006713339.3:c.156G>A, XM_006713339.2:c.156G>A, XM_006713339.1:c.156G>A, NM_025075.4:c.312G>A, NM_025075.3:c.312G>A, NM_025075.2:c.312G>A, NM_001285387.3:c.156G>A, NM_001285387.2:c.156G>A, NM_001285387.1:c.156G>A, NM_001285404.2:c.156G>A, NM_001285404.1:c.156G>A

Select item 138600788217.

rs1386007882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:63835358 (GRCh38)
3:63821034 (GRCh37)
Canonical SPDI:: NC_000003.12:63835357:T:C,NC_000003.12:63835357:T:G
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
C=0.000008/2 (TOPMED)
G=0.000223/1 (Estonian)
T=0.5/2 (SGDP_PRJ)
HGVS:: NC_000003.12:g.63835358T>C, NC_000003.12:g.63835358T>G, NC_000003.11:g.63821034T>C, NC_000003.11:g.63821034T>G, XM_006713339.4:c.287A>G, XM_006713339.4:c.287A>C, XM_006713339.3:c.287A>G, XM_006713339.3:c.287A>C, XM_006713339.2:c.287A>G, XM_006713339.2:c.287A>C, XM_006713339.1:c.287A>G, XM_006713339.1:c.287A>C, NM_025075.4:c.443A>G, NM_025075.4:c.443A>C, NM_025075.3:c.443A>G, NM_025075.3:c.443A>C, NM_025075.2:c.443A>G, NM_025075.2:c.443A>C, NM_001285387.3:c.287A>G, NM_001285387.3:c.287A>C, NM_001285387.2:c.287A>G, NM_001285387.2:c.287A>C, NM_001285387.1:c.287A>G, NM_001285387.1:c.287A>C, NM_001285404.2:c.287A>G, NM_001285404.2:c.287A>C, NM_001285404.1:c.287A>G, NM_001285404.1:c.287A>C, XP_006713402.1:p.His96Arg, XP_006713402.1:p.His96Pro, NP_079351.2:p.His148Arg, NP_079351.2:p.His148Pro, NP_001272316.1:p.His96Arg, NP_001272316.1:p.His96Pro, NP_001272333.1:p.His96Arg, NP_001272333.1:p.His96Pro

Select item 138442034118.

rs1384420341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:63836336 (GRCh38)
3:63822012 (GRCh37)
Canonical SPDI:: NC_000003.12:63836335:C:T
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.63836336C>T, NC_000003.11:g.63822012C>T, XM_006713339.4:c.219G>A, XM_006713339.3:c.219G>A, XM_006713339.2:c.219G>A, XM_006713339.1:c.219G>A, NM_025075.4:c.375G>A, NM_025075.3:c.375G>A, NM_025075.2:c.375G>A, NM_001285387.3:c.219G>A, NM_001285387.2:c.219G>A, NM_001285387.1:c.219G>A, NM_001285404.2:c.219G>A, NM_001285404.1:c.219G>A

Select item 137685654319.

rs1376856543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:63836309 (GRCh38)
3:63821985 (GRCh37)
Canonical SPDI:: NC_000003.12:63836308:C:G,NC_000003.12:63836308:C:T
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.63836309C>G, NC_000003.12:g.63836309C>T, NC_000003.11:g.63821985C>G, NC_000003.11:g.63821985C>T, XM_006713339.4:c.246G>C, XM_006713339.4:c.246G>A, XM_006713339.3:c.246G>C, XM_006713339.3:c.246G>A, XM_006713339.2:c.246G>C, XM_006713339.2:c.246G>A, XM_006713339.1:c.246G>C, XM_006713339.1:c.246G>A, NM_025075.4:c.402G>C, NM_025075.4:c.402G>A, NM_025075.3:c.402G>C, NM_025075.3:c.402G>A, NM_025075.2:c.402G>C, NM_025075.2:c.402G>A, NM_001285387.3:c.246G>C, NM_001285387.3:c.246G>A, NM_001285387.2:c.246G>C, NM_001285387.2:c.246G>A, NM_001285387.1:c.246G>C, NM_001285387.1:c.246G>A, NM_001285404.2:c.246G>C, NM_001285404.2:c.246G>A, NM_001285404.1:c.246G>C, NM_001285404.1:c.246G>A, XP_006713402.1:p.Glu82Asp, NP_079351.2:p.Glu134Asp, NP_001272316.1:p.Glu82Asp, NP_001272333.1:p.Glu82Asp

Select item 137625570020.

rs1376255700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:63838438 (GRCh38)
3:63824114 (GRCh37)
Canonical SPDI:: NC_000003.12:63838437:T:G
Gene:: THOC7 (Varview), C3orf49 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.63838438T>G, NC_000003.11:g.63824114T>G, XM_006713339.4:c.43A>C, XM_006713339.3:c.43A>C, XM_006713339.2:c.43A>C, XM_006713339.1:c.43A>C, NM_025075.4:c.199A>C, NM_025075.3:c.199A>C, NM_025075.2:c.199A>C, NM_001285387.3:c.43A>C, NM_001285387.2:c.43A>C, NM_001285387.1:c.43A>C, NM_001285404.2:c.43A>C, NM_001285404.1:c.43A>C, XP_006713402.1:p.Thr15Pro, NP_079351.2:p.Thr67Pro, NP_001272316.1:p.Thr15Pro, NP_001272333.1:p.Thr15Pro

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