SNP Links for Nucleotide (Select 283945557) - SNP

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Select item 14899696171.

rs1489969617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:34179060 (GRCh38)
9:34179058 (GRCh37)
Canonical SPDI:: NC_000009.12:34179059:C:A,NC_000009.12:34179059:C:T
Gene:: UBAP1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.34179060C>A, NC_000009.12:g.34179060C>T, NC_000009.11:g.34179058C>A, NC_000009.11:g.34179058C>T, NM_016525.5:c.-188C>A, NM_016525.5:c.-188C>T, NM_016525.4:c.-188C>A, NM_016525.4:c.-188C>T, NM_001171203.3:c.-343C>A, NM_001171203.3:c.-343C>T, NM_001171203.2:c.-343C>A, NM_001171203.2:c.-343C>T, NM_001171204.3:c.-311C>A, NM_001171204.3:c.-311C>T, NM_001171204.2:c.-311C>A, NM_001171204.2:c.-311C>T, NR_033243.3:n.18C>A, NR_033243.3:n.18C>T, NR_033243.2:n.56C>A, NR_033243.2:n.56C>T, NM_001171201.1:c.46C>A, NM_001171201.1:c.46C>T, NM_001171202.1:c.46C>A, NM_001171202.1:c.46C>T, NP_001164672.1:p.His16Asn, NP_001164672.1:p.His16Tyr, NP_001164673.1:p.His16Asn, NP_001164673.1:p.His16Tyr

Select item 14880317962.

rs1488031796 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34234282 (GRCh38)
9:34234280 (GRCh37)
Canonical SPDI:: NC_000009.12:34234281:T:C
Gene:: UBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34234282T>C, NC_000009.11:g.34234280T>C, NM_016525.5:c.101T>C, NM_016525.4:c.101T>C, XM_006716779.5:c.101T>C, XM_006716779.4:c.101T>C, XM_006716779.3:c.101T>C, XM_006716779.2:c.101T>C, XM_006716779.1:c.101T>C, NM_001171203.3:c.101T>C, NM_001171203.2:c.101T>C, NM_001171204.3:c.101T>C, NM_001171204.2:c.101T>C, NR_033243.3:n.422T>C, NR_033243.2:n.460T>C, NM_001171201.1:c.293T>C, XM_047423457.1:c.101T>C, XM_047423458.1:c.101T>C, NP_057609.2:p.Val34Ala, XP_006716842.1:p.Val34Ala, NP_001164674.1:p.Val34Ala, NP_001164675.1:p.Val34Ala, NP_001164672.1:p.Val98Ala, XP_047279413.1:p.Val34Ala, XP_047279414.1:p.Val34Ala

Select item 14855567323.

rs1485556732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:34252142 (GRCh38)
9:34252140 (GRCh37)
Canonical SPDI:: NC_000009.12:34252141:C:G,NC_000009.12:34252141:C:T
Gene:: UBAP1 (Varview), KIF24 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.34252142C>G, NC_000009.12:g.34252142C>T, NC_000009.11:g.34252140C>G, NC_000009.11:g.34252140C>T, NG_053094.1:g.85831G>C, NG_053094.1:g.85831G>A, NM_016525.5:c.*610C>G, NM_016525.5:c.*610C>T, NM_016525.4:c.*610C>G, NM_016525.4:c.*610C>T, XM_006716779.5:c.*610C>G, XM_006716779.5:c.*610C>T, XM_006716779.4:c.*610C>G, XM_006716779.4:c.*610C>T, XM_006716779.3:c.*610C>G, XM_006716779.3:c.*610C>T, XM_006716779.2:c.*610C>G, XM_006716779.2:c.*610C>T, XM_006716779.1:c.*610C>G, XM_006716779.1:c.*610C>T, NM_001171203.3:c.*610C>G, NM_001171203.3:c.*610C>T, NM_001171203.2:c.*610C>G, NM_001171203.2:c.*610C>T, NM_001171204.3:c.*610C>G, NM_001171204.3:c.*610C>T, NM_001171204.2:c.*610C>G, NM_001171204.2:c.*610C>T, NR_033243.3:n.2440C>G, NR_033243.3:n.2440C>T, NR_033243.2:n.2478C>G, NR_033243.2:n.2478C>T, XM_011517898.2:c.*610C>G, XM_011517898.2:c.*610C>T, XM_011517898.1:c.*610C>G, XM_011517898.1:c.*610C>T, XM_017014802.2:c.*610C>G, XM_017014802.2:c.*610C>T, XM_017014802.1:c.*610C>G, XM_017014802.1:c.*610C>T, NM_001171201.1:c.*610C>G, NM_001171201.1:c.*610C>T, XM_047423457.1:c.*610C>G, XM_047423457.1:c.*610C>T, NM_001171202.1:c.*610C>G, NM_001171202.1:c.*610C>T, XM_047423458.1:c.*610C>G, XM_047423458.1:c.*610C>T

Select item 14849604344.

rs1484960434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34252242 (GRCh38)
9:34252240 (GRCh37)
Canonical SPDI:: NC_000009.12:34252241:C:T
Gene:: UBAP1 (Varview), KIF24 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.34252242C>T, NC_000009.11:g.34252240C>T, NG_053094.1:g.85731G>A, NM_016525.5:c.*710C>T, NM_016525.4:c.*710C>T, XM_006716779.5:c.*710C>T, XM_006716779.4:c.*710C>T, XM_006716779.3:c.*710C>T, XM_006716779.2:c.*710C>T, XM_006716779.1:c.*710C>T, NM_001171203.3:c.*710C>T, NM_001171203.2:c.*710C>T, NM_001171204.3:c.*710C>T, NM_001171204.2:c.*710C>T, NR_033243.3:n.2540C>T, NR_033243.2:n.2578C>T, XM_011517898.2:c.*710C>T, XM_011517898.1:c.*710C>T, XM_017014802.2:c.*710C>T, XM_017014802.1:c.*710C>T, NM_001171201.1:c.*710C>T, XM_047423457.1:c.*710C>T, NM_001171202.1:c.*710C>T, XM_047423458.1:c.*710C>T

Select item 14848238495.

rs1484823849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34234338 (GRCh38)
9:34234336 (GRCh37)
Canonical SPDI:: NC_000009.12:34234337:C:T
Gene:: UBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant,intron_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_000009.12:g.34234338C>T, NC_000009.11:g.34234336C>T, NM_016525.5:c.157C>T, NM_016525.4:c.157C>T, XM_006716779.5:c.157C>T, XM_006716779.4:c.157C>T, XM_006716779.3:c.157C>T, XM_006716779.2:c.157C>T, XM_006716779.1:c.157C>T, NM_001171203.3:c.157C>T, NM_001171203.2:c.157C>T, NM_001171204.3:c.157C>T, NM_001171204.2:c.157C>T, NR_033243.3:n.478C>T, NR_033243.2:n.516C>T, NM_001171201.1:c.349C>T, XM_047423457.1:c.157C>T, XM_047423458.1:c.157C>T, NP_057609.2:p.Gln53Ter, XP_006716842.1:p.Gln53Ter, NP_001164674.1:p.Gln53Ter, NP_001164675.1:p.Gln53Ter, NP_001164672.1:p.Gln117Ter, XP_047279413.1:p.Gln53Ter, XP_047279414.1:p.Gln53Ter

Select item 14847718546.

rs1484771854 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATT>- [Show Flanks]
Chromosome:: 9:34252463 (GRCh38)
9:34252461 (GRCh37)
Canonical SPDI:: NC_000009.12:34252461:TAATT:T
Gene:: UBAP1 (Varview), KIF24 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000163/3 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000081/6 (GnomAD)
-=0.000694/3 (Estonian)
HGVS:: NC_000009.12:g.34252463_34252466del, NC_000009.11:g.34252461_34252464del, NG_053094.1:g.85508_85511del, NM_194313.4:c.*1915_*1918del, NM_194313.3:c.*1915_*1918del, NM_194313.2:c.*1915_*1918del, NM_016525.5:c.*931_*934del, NM_016525.4:c.*931_*934del, XM_006716779.5:c.*931_*934del, XM_006716779.4:c.*931_*934del, XM_006716779.3:c.*931_*934del, XM_006716779.2:c.*931_*934del, XM_006716779.1:c.*931_*934del, XM_011517863.4:c.*1915_*1918del, XM_011517863.3:c.*1915_*1918del, XM_011517863.2:c.*1915_*1918del, XM_011517863.1:c.*1915_*1918del, XM_006716764.4:c.*1915_*1918del, XM_006716764.3:c.*1915_*1918del, XM_006716764.2:c.*1915_*1918del, XM_011517861.3:c.*1915_*1918del, XM_011517861.2:c.*1915_*1918del, XM_011517861.1:c.*1915_*1918del, XM_017014697.3:c.*1915_*1918del, XM_017014697.2:c.*1915_*1918del, XM_017014697.1:c.*1915_*1918del, NM_001171203.3:c.*931_*934del, NM_001171203.2:c.*931_*934del, NM_001171204.3:c.*931_*934del, NM_001171204.2:c.*931_*934del, NR_033243.3:n.2761_2764del, NR_033243.2:n.2799_2802del, XM_011517898.2:c.*931_*934del, XM_011517898.1:c.*931_*934del, XM_017014802.2:c.*931_*934del, XM_017014802.1:c.*931_*934del, XM_047423342.1:c.*1915_*1918del, XM_047423340.1:c.*1915_*1918del, XM_047423343.1:c.*1915_*1918del, XM_047423344.1:c.*1915_*1918del, XM_047423345.1:c.*1915_*1918del, NM_001171201.1:c.*931_*934del, XM_047423457.1:c.*931_*934del, NM_001171202.1:c.*931_*934del, XM_047423458.1:c.*931_*934del

Select item 14843914317.

rs1484391431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:34242033 (GRCh38)
9:34242031 (GRCh37)
Canonical SPDI:: NC_000009.12:34242032:A:G
Gene:: UBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34242033A>G, NC_000009.11:g.34242031A>G, NM_016525.5:c.1008A>G, NM_016525.4:c.1008A>G, XM_006716779.5:c.1008A>G, XM_006716779.4:c.1008A>G, XM_006716779.3:c.1008A>G, XM_006716779.2:c.1008A>G, XM_006716779.1:c.1008A>G, NM_001171203.3:c.1008A>G, NM_001171203.2:c.1008A>G, NM_001171204.3:c.1008A>G, NM_001171204.2:c.1008A>G, NR_033243.3:n.1329A>G, NR_033243.2:n.1367A>G, XM_011517898.2:c.1029A>G, XM_011517898.1:c.1029A>G, XM_017014802.2:c.966A>G, XM_017014802.1:c.966A>G, NM_001171201.1:c.1200A>G, XM_047423457.1:c.1008A>G, NM_001171202.1:c.1116A>G, XM_047423458.1:c.1008A>G

Select item 14833393318.

rs1483339331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34251791 (GRCh38)
9:34251789 (GRCh37)
Canonical SPDI:: NC_000009.12:34251790:C:T
Gene:: UBAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.34251791C>T, NC_000009.11:g.34251789C>T, NG_053094.1:g.86182G>A, NM_016525.5:c.*259C>T, NM_016525.4:c.*259C>T, XM_006716779.5:c.*259C>T, XM_006716779.4:c.*259C>T, XM_006716779.3:c.*259C>T, XM_006716779.2:c.*259C>T, XM_006716779.1:c.*259C>T, NM_001171203.3:c.*259C>T, NM_001171203.2:c.*259C>T, NM_001171204.3:c.*259C>T, NM_001171204.2:c.*259C>T, NR_033243.3:n.2089C>T, NR_033243.2:n.2127C>T, XM_011517898.2:c.*259C>T, XM_011517898.1:c.*259C>T, XM_017014802.2:c.*259C>T, XM_017014802.1:c.*259C>T, NM_001171201.1:c.*259C>T, XM_047423457.1:c.*259C>T, NM_001171202.1:c.*259C>T, XM_047423458.1:c.*259C>T

Select item 14808097019.

rs1480809701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:34241720 (GRCh38)
9:34241718 (GRCh37)
Canonical SPDI:: NC_000009.12:34241719:A:G
Gene:: UBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34241720A>G, NC_000009.11:g.34241718A>G, NM_016525.5:c.695A>G, NM_016525.4:c.695A>G, XM_006716779.5:c.695A>G, XM_006716779.4:c.695A>G, XM_006716779.3:c.695A>G, XM_006716779.2:c.695A>G, XM_006716779.1:c.695A>G, NM_001171203.3:c.695A>G, NM_001171203.2:c.695A>G, NM_001171204.3:c.695A>G, NM_001171204.2:c.695A>G, NR_033243.3:n.1016A>G, NR_033243.2:n.1054A>G, XM_011517898.2:c.716A>G, XM_011517898.1:c.716A>G, XM_017014802.2:c.653A>G, XM_017014802.1:c.653A>G, NM_001171201.1:c.887A>G, XM_047423457.1:c.695A>G, NM_001171202.1:c.803A>G, XM_047423458.1:c.695A>G, NP_057609.2:p.Asn232Ser, XP_006716842.1:p.Asn232Ser, NP_001164674.1:p.Asn232Ser, NP_001164675.1:p.Asn232Ser, XP_011516200.1:p.Asn239Ser, XP_016870291.1:p.Asn218Ser, NP_001164672.1:p.Asn296Ser, XP_047279413.1:p.Asn232Ser, NP_001164673.1:p.Asn268Ser, XP_047279414.1:p.Asn232Ser

Select item 148009948310.

rs1480099483 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACATTGAATGG>- [Show Flanks]
Chromosome:: 9:34252247 (GRCh38)
9:34252245 (GRCh37)
Canonical SPDI:: NC_000009.12:34252245:GCACATTGAATGG:G
Gene:: UBAP1 (Varview), KIF24 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.34252247_34252258del, NC_000009.11:g.34252245_34252256del, NG_053094.1:g.85716_85727del, NM_016525.5:c.*715_*726del, NM_016525.4:c.*715_*726del, XM_006716779.5:c.*715_*726del, XM_006716779.4:c.*715_*726del, XM_006716779.3:c.*715_*726del, XM_006716779.2:c.*715_*726del, XM_006716779.1:c.*715_*726del, NM_001171203.3:c.*715_*726del, NM_001171203.2:c.*715_*726del, NM_001171204.3:c.*715_*726del, NM_001171204.2:c.*715_*726del, NR_033243.3:n.2545_2556del, NR_033243.2:n.2583_2594del, XM_011517898.2:c.*715_*726del, XM_011517898.1:c.*715_*726del, XM_017014802.2:c.*715_*726del, XM_017014802.1:c.*715_*726del, NM_001171201.1:c.*715_*726del, XM_047423457.1:c.*715_*726del, NM_001171202.1:c.*715_*726del, XM_047423458.1:c.*715_*726del

Select item 147937570511.

rs1479375705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:34251412 (GRCh38)
9:34251410 (GRCh37)
Canonical SPDI:: NC_000009.12:34251411:A:C,NC_000009.12:34251411:A:G
Gene:: UBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.34251412A>C, NC_000009.12:g.34251412A>G, NC_000009.11:g.34251410A>C, NC_000009.11:g.34251410A>G, NG_053094.1:g.86561T>G, NG_053094.1:g.86561T>C, NM_016525.5:c.1389A>C, NM_016525.5:c.1389A>G, NM_016525.4:c.1389A>C, NM_016525.4:c.1389A>G, XM_006716779.5:c.1389A>C, XM_006716779.5:c.1389A>G, XM_006716779.4:c.1389A>C, XM_006716779.4:c.1389A>G, XM_006716779.3:c.1389A>C, XM_006716779.3:c.1389A>G, XM_006716779.2:c.1389A>C, XM_006716779.2:c.1389A>G, XM_006716779.1:c.1389A>C, XM_006716779.1:c.1389A>G, NM_001171203.3:c.1389A>C, NM_001171203.3:c.1389A>G, NM_001171203.2:c.1389A>C, NM_001171203.2:c.1389A>G, NM_001171204.3:c.1389A>C, NM_001171204.3:c.1389A>G, NM_001171204.2:c.1389A>C, NM_001171204.2:c.1389A>G, NR_033243.3:n.1710A>C, NR_033243.3:n.1710A>G, NR_033243.2:n.1748A>C, NR_033243.2:n.1748A>G, XM_011517898.2:c.1410A>C, XM_011517898.2:c.1410A>G, XM_011517898.1:c.1410A>C, XM_011517898.1:c.1410A>G, XM_017014802.2:c.1347A>C, XM_017014802.2:c.1347A>G, XM_017014802.1:c.1347A>C, XM_017014802.1:c.1347A>G, NM_001171201.1:c.1581A>C, NM_001171201.1:c.1581A>G, XM_047423457.1:c.1389A>C, XM_047423457.1:c.1389A>G, NM_001171202.1:c.1497A>C, NM_001171202.1:c.1497A>G, XM_047423458.1:c.1389A>C, XM_047423458.1:c.1389A>G, NP_057609.2:p.Leu463Phe, XP_006716842.1:p.Leu463Phe, NP_001164674.1:p.Leu463Phe, NP_001164675.1:p.Leu463Phe, XP_011516200.1:p.Leu470Phe, XP_016870291.1:p.Leu449Phe, NP_001164672.1:p.Leu527Phe, XP_047279413.1:p.Leu463Phe, NP_001164673.1:p.Leu499Phe, XP_047279414.1:p.Leu463Phe

Select item 147826613212.

rs1478266132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34242066 (GRCh38)
9:34242064 (GRCh37)
Canonical SPDI:: NC_000009.12:34242065:T:C
Gene:: UBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000009.12:g.34242066T>C, NC_000009.11:g.34242064T>C, NM_016525.5:c.1041T>C, NM_016525.4:c.1041T>C, XM_006716779.5:c.1041T>C, XM_006716779.4:c.1041T>C, XM_006716779.3:c.1041T>C, XM_006716779.2:c.1041T>C, XM_006716779.1:c.1041T>C, NM_001171203.3:c.1041T>C, NM_001171203.2:c.1041T>C, NM_001171204.3:c.1041T>C, NM_001171204.2:c.1041T>C, NR_033243.3:n.1362T>C, NR_033243.2:n.1400T>C, XM_011517898.2:c.1062T>C, XM_011517898.1:c.1062T>C, XM_017014802.2:c.999T>C, XM_017014802.1:c.999T>C, NM_001171201.1:c.1233T>C, XM_047423457.1:c.1041T>C, NM_001171202.1:c.1149T>C, XM_047423458.1:c.1041T>C

Select item 147798325813.

rs1477983258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34250688 (GRCh38)
9:34250686 (GRCh37)
Canonical SPDI:: NC_000009.12:34250687:C:T
Gene:: UBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.34250688C>T, NC_000009.11:g.34250686C>T, NG_053094.1:g.87285G>A, NM_016525.5:c.1297C>T, NM_016525.4:c.1297C>T, XM_006716779.5:c.1297C>T, XM_006716779.4:c.1297C>T, XM_006716779.3:c.1297C>T, XM_006716779.2:c.1297C>T, XM_006716779.1:c.1297C>T, NM_001171203.3:c.1297C>T, NM_001171203.2:c.1297C>T, NM_001171204.3:c.1297C>T, NM_001171204.2:c.1297C>T, NR_033243.3:n.1618C>T, NR_033243.2:n.1656C>T, XM_011517898.2:c.1318C>T, XM_011517898.1:c.1318C>T, XM_017014802.2:c.1255C>T, XM_017014802.1:c.1255C>T, NM_001171201.1:c.1489C>T, XM_047423457.1:c.1297C>T, NM_001171202.1:c.1405C>T, XM_047423458.1:c.1297C>T, NP_057609.2:p.Leu433Phe, XP_006716842.1:p.Leu433Phe, NP_001164674.1:p.Leu433Phe, NP_001164675.1:p.Leu433Phe, XP_011516200.1:p.Leu440Phe, XP_016870291.1:p.Leu419Phe, NP_001164672.1:p.Leu497Phe, XP_047279413.1:p.Leu433Phe, NP_001164673.1:p.Leu469Phe, XP_047279414.1:p.Leu433Phe

Select item 147669174714.

rs1476691747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:34252258 (GRCh38)
9:34252256 (GRCh37)
Canonical SPDI:: NC_000009.12:34252257:G:C
Gene:: UBAP1 (Varview), KIF24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.34252258G>C, NC_000009.11:g.34252256G>C, NG_053094.1:g.85715C>G, NM_016525.5:c.*726G>C, NM_016525.4:c.*726G>C, XM_006716779.5:c.*726G>C, XM_006716779.4:c.*726G>C, XM_006716779.3:c.*726G>C, XM_006716779.2:c.*726G>C, XM_006716779.1:c.*726G>C, NM_001171203.3:c.*726G>C, NM_001171203.2:c.*726G>C, NM_001171204.3:c.*726G>C, NM_001171204.2:c.*726G>C, NR_033243.3:n.2556G>C, NR_033243.2:n.2594G>C, XM_011517898.2:c.*726G>C, XM_011517898.1:c.*726G>C, XM_017014802.2:c.*726G>C, XM_017014802.1:c.*726G>C, NM_001171201.1:c.*726G>C, XM_047423457.1:c.*726G>C, NM_001171202.1:c.*726G>C, XM_047423458.1:c.*726G>C

Select item 147605325915.

rs1476053259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:34179229 (GRCh38)
9:34179227 (GRCh37)
Canonical SPDI:: NC_000009.12:34179228:A:G
Gene:: UBAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.34179229A>G, NC_000009.11:g.34179227A>G, NM_016525.5:c.-19A>G, NM_016525.4:c.-19A>G, NM_001171203.3:c.-174A>G, NM_001171203.2:c.-174A>G, NM_001171204.3:c.-142A>G, NM_001171204.2:c.-142A>G, NR_033243.3:n.187A>G, NR_033243.2:n.225A>G, NM_001171201.1:c.215A>G, NM_001171202.1:c.215A>G, NP_001164672.1:p.Gln72Arg, NP_001164673.1:p.Gln72Arg

Select item 147589199616.

rs1475891996 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:34252217 (GRCh38)
9:34252215 (GRCh37)
Canonical SPDI:: NC_000009.12:34252215:ACA:A
Gene:: UBAP1 (Varview), KIF24 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.34252217_34252218del, NC_000009.11:g.34252215_34252216del, NG_053094.1:g.85756_85757del, NM_016525.5:c.*685_*686del, NM_016525.4:c.*685_*686del, XM_006716779.5:c.*685_*686del, XM_006716779.4:c.*685_*686del, XM_006716779.3:c.*685_*686del, XM_006716779.2:c.*685_*686del, XM_006716779.1:c.*685_*686del, NM_001171203.3:c.*685_*686del, NM_001171203.2:c.*685_*686del, NM_001171204.3:c.*685_*686del, NM_001171204.2:c.*685_*686del, NR_033243.3:n.2515_2516del, NR_033243.2:n.2553_2554del, XM_011517898.2:c.*685_*686del, XM_011517898.1:c.*685_*686del, XM_017014802.2:c.*685_*686del, XM_017014802.1:c.*685_*686del, NM_001171201.1:c.*685_*686del, XM_047423457.1:c.*685_*686del, NM_001171202.1:c.*685_*686del, XM_047423458.1:c.*685_*686del

Select item 147388468417.

rs1473884684 [Homo sapiens]

Variant type:: DEL
Alleles:: AAT>- [Show Flanks]
Chromosome:: 9:34251479 (GRCh38)
9:34251477 (GRCh37)
Canonical SPDI:: NC_000009.12:34251478:AAT:
Gene:: UBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.34251479_34251481del, NC_000009.11:g.34251477_34251479del, NG_053094.1:g.86492_86494del, NM_016525.5:c.1456_1458del, NM_016525.4:c.1456_1458del, XM_006716779.5:c.1456_1458del, XM_006716779.4:c.1456_1458del, XM_006716779.3:c.1456_1458del, XM_006716779.2:c.1456_1458del, XM_006716779.1:c.1456_1458del, NM_001171203.3:c.1456_1458del, NM_001171203.2:c.1456_1458del, NM_001171204.3:c.1456_1458del, NM_001171204.2:c.1456_1458del, NR_033243.3:n.1777_1779del, NR_033243.2:n.1815_1817del, XM_011517898.2:c.1477_1479del, XM_011517898.1:c.1477_1479del, XM_017014802.2:c.1414_1416del, XM_017014802.1:c.1414_1416del, NM_001171201.1:c.1648_1650del, XM_047423457.1:c.1456_1458del, NM_001171202.1:c.1564_1566del, XM_047423458.1:c.1456_1458del, NP_057609.2:p.Asn486del, XP_006716842.1:p.Asn486del, NP_001164674.1:p.Asn486del, NP_001164675.1:p.Asn486del, XP_011516200.1:p.Asn493del, XP_016870291.1:p.Asn472del, NP_001164672.1:p.Asn550del, XP_047279413.1:p.Asn486del, NP_001164673.1:p.Asn522del, XP_047279414.1:p.Asn486del

Select item 147349496218.

rs1473494962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34251784 (GRCh38)
9:34251782 (GRCh37)
Canonical SPDI:: NC_000009.12:34251783:T:C
Gene:: UBAP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_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_000009.12:g.34251784T>C, NC_000009.11:g.34251782T>C, NG_053094.1:g.86189A>G, NM_016525.5:c.*252T>C, NM_016525.4:c.*252T>C, XM_006716779.5:c.*252T>C, XM_006716779.4:c.*252T>C, XM_006716779.3:c.*252T>C, XM_006716779.2:c.*252T>C, XM_006716779.1:c.*252T>C, NM_001171203.3:c.*252T>C, NM_001171203.2:c.*252T>C, NM_001171204.3:c.*252T>C, NM_001171204.2:c.*252T>C, NR_033243.3:n.2082T>C, NR_033243.2:n.2120T>C, XM_011517898.2:c.*252T>C, XM_011517898.1:c.*252T>C, XM_017014802.2:c.*252T>C, XM_017014802.1:c.*252T>C, NM_001171201.1:c.*252T>C, XM_047423457.1:c.*252T>C, NM_001171202.1:c.*252T>C, XM_047423458.1:c.*252T>C

Select item 147307898619.

rs1473078986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34234323 (GRCh38)
9:34234321 (GRCh37)
Canonical SPDI:: NC_000009.12:34234322:G:A
Gene:: UBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.34234323G>A, NC_000009.11:g.34234321G>A, NM_016525.5:c.142G>A, NM_016525.4:c.142G>A, XM_006716779.5:c.142G>A, XM_006716779.4:c.142G>A, XM_006716779.3:c.142G>A, XM_006716779.2:c.142G>A, XM_006716779.1:c.142G>A, NM_001171203.3:c.142G>A, NM_001171203.2:c.142G>A, NM_001171204.3:c.142G>A, NM_001171204.2:c.142G>A, NR_033243.3:n.463G>A, NR_033243.2:n.501G>A, NM_001171201.1:c.334G>A, XM_047423457.1:c.142G>A, XM_047423458.1:c.142G>A, NP_057609.2:p.Val48Ile, XP_006716842.1:p.Val48Ile, NP_001164674.1:p.Val48Ile, NP_001164675.1:p.Val48Ile, NP_001164672.1:p.Val112Ile, XP_047279413.1:p.Val48Ile, XP_047279414.1:p.Val48Ile

Select item 147196234920.

rs1471962349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34241883 (GRCh38)
9:34241881 (GRCh37)
Canonical SPDI:: NC_000009.12:34241882:T:C
Gene:: UBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.34241883T>C, NC_000009.11:g.34241881T>C, NM_016525.5:c.858T>C, NM_016525.4:c.858T>C, XM_006716779.5:c.858T>C, XM_006716779.4:c.858T>C, XM_006716779.3:c.858T>C, XM_006716779.2:c.858T>C, XM_006716779.1:c.858T>C, NM_001171203.3:c.858T>C, NM_001171203.2:c.858T>C, NM_001171204.3:c.858T>C, NM_001171204.2:c.858T>C, NR_033243.3:n.1179T>C, NR_033243.2:n.1217T>C, XM_011517898.2:c.879T>C, XM_011517898.1:c.879T>C, XM_017014802.2:c.816T>C, XM_017014802.1:c.816T>C, NM_001171201.1:c.1050T>C, XM_047423457.1:c.858T>C, NM_001171202.1:c.966T>C, XM_047423458.1:c.858T>C

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