SNP Links for Protein (Select 1021312262) - SNP

Links from Protein

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Select item 14853071731.

rs1485307173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:10756725 (GRCh38)
16:10850582 (GRCh37)
Canonical SPDI:: NC_000016.10:10756724:C:T
Gene:: NUBP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.10756725C>T, NC_000016.9:g.10850582C>T, NM_002484.4:c.396C>T, NM_002484.3:c.396C>T, NM_001278506.2:c.363C>T, NM_001278506.1:c.363C>T, NM_001323595.2:c.396C>T, NM_001323595.1:c.396C>T, NM_001323596.2:c.396C>T, NM_001323596.1:c.396C>T, NM_001323594.2:c.327C>T, NM_001323594.1:c.327C>T, NM_001323597.1:c.249C>T, XM_047434170.1:c.363C>T

Select item 14830761922.

rs1483076192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:10744045 (GRCh38)
16:10837902 (GRCh37)
Canonical SPDI:: NC_000016.10:10744044:C:G,NC_000016.10:10744044:C:T
Gene:: NUBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.10744045C>G, NC_000016.10:g.10744045C>T, NC_000016.9:g.10837902C>G, NC_000016.9:g.10837902C>T, NM_002484.4:c.104C>G, NM_002484.4:c.104C>T, NM_002484.3:c.104C>G, NM_002484.3:c.104C>T, NM_001278506.2:c.104C>G, NM_001278506.2:c.104C>T, NM_001278506.1:c.104C>G, NM_001278506.1:c.104C>T, NM_001323595.2:c.104C>G, NM_001323595.2:c.104C>T, NM_001323595.1:c.104C>G, NM_001323595.1:c.104C>T, NM_001323596.2:c.104C>G, NM_001323596.2:c.104C>T, NM_001323596.1:c.104C>G, NM_001323596.1:c.104C>T, NM_001323594.2:c.104C>G, NM_001323594.2:c.104C>T, NM_001323594.1:c.104C>G, NM_001323594.1:c.104C>T, NM_001323597.1:c.-44C>G, NM_001323597.1:c.-44C>T, XM_047434170.1:c.104C>G, XM_047434170.1:c.104C>T, NP_002475.2:p.Ala35Gly, NP_002475.2:p.Ala35Val, NP_001265435.1:p.Ala35Gly, NP_001265435.1:p.Ala35Val, NP_001310524.1:p.Ala35Gly, NP_001310524.1:p.Ala35Val, NP_001310525.1:p.Ala35Gly, NP_001310525.1:p.Ala35Val, NP_001310523.1:p.Ala35Gly, NP_001310523.1:p.Ala35Val, XP_047290126.1:p.Ala35Gly, XP_047290126.1:p.Ala35Val

Select item 14825921643.

rs1482592164 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCCT>- [Show Flanks]
Chromosome:: 16:10761461 (GRCh38)
16:10855318 (GRCh37)
Canonical SPDI:: NC_000016.10:10761458:CTGTCCT:CT
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.10761461_10761465del, NC_000016.9:g.10855318_10855322del, NM_002484.4:c.704_708del, NM_002484.3:c.704_708del, NR_134901.2:n.1325_1329del, NR_134901.1:n.1325_1329del, NR_134902.2:n.1255_1259del, NR_134902.1:n.1255_1259del, NR_134906.2:n.1226_1230del, NR_134906.1:n.1226_1230del, NR_134903.2:n.1217_1221del, NR_134903.1:n.1217_1221del, NR_134904.2:n.1180_1184del, NR_134904.1:n.1180_1184del, NR_134905.2:n.1110_1114del, NR_134905.1:n.1110_1114del, NM_001278506.2:c.671_675del, NM_001278506.1:c.671_675del, NM_001323595.2:c.704_708del, NM_001323595.1:c.704_708del, NM_001323596.2:c.704_708del, NM_001323596.1:c.704_708del, NM_001323594.2:c.635_639del, NM_001323594.1:c.635_639del, XR_007064909.1:n.6970_6974del, XR_007064910.1:n.4696_4700del, NM_001323597.1:c.557_561del, XM_047434170.1:c.671_675del, NP_002475.2:p.Ile234_Cys235insTer, NP_001265435.1:p.Ile223_Cys224insTer, NP_001310524.1:p.Ile234_Cys235insTer, NP_001310525.1:p.Ile234_Cys235insTer, NP_001310523.1:p.Ile211_Cys212insTer, NP_001310526.1:p.Ile185_Cys186insTer, XP_047290126.1:p.Ile223_Cys224insTer

Select item 14819652674.

rs1481965267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:10769078 (GRCh38)
16:10862935 (GRCh37)
Canonical SPDI:: NC_000016.10:10769077:A:C
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.10769078A>C, NC_000016.9:g.10862935A>C, NM_001079512.4:c.*24T>G, NM_001079512.3:c.*24T>G, NM_001079512.2:c.*24T>G, NM_002484.4:c.936A>C, NM_002484.3:c.936A>C, XM_017023651.3:c.*401T>G, XM_017023651.2:c.*401T>G, XM_017023651.1:c.*401T>G, NM_001318873.2:c.*24T>G, NM_001318873.1:c.*24T>G, NM_001278506.2:c.903A>C, NM_001278506.1:c.903A>C, NM_001323595.2:c.852A>C, NM_001323595.1:c.852A>C, NM_001323596.2:c.*53A>C, NM_001323596.1:c.*53A>C, NM_001323594.2:c.783A>C, NM_001323594.1:c.783A>C, XR_007064909.1:n.1344T>G, XR_007064910.1:n.1344T>G, NM_001323597.1:c.*53A>C, XM_047434170.1:c.819A>C

Select item 14807178815.

rs1480717881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:10757932 (GRCh38)
16:10851789 (GRCh37)
Canonical SPDI:: NC_000016.10:10757931:G:T
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.10757932G>T, NC_000016.9:g.10851789G>T, NM_002484.4:c.511G>T, NM_002484.3:c.511G>T, XR_001751978.2:n.1159C>A, NM_001278506.2:c.478G>T, NM_001278506.1:c.478G>T, NM_001323595.2:c.511G>T, NM_001323595.1:c.511G>T, NM_001323596.2:c.511G>T, NM_001323596.1:c.511G>T, NM_001323594.2:c.442G>T, NM_001323594.1:c.442G>T, NM_001323597.1:c.364G>T, XM_047434170.1:c.478G>T, NP_002475.2:p.Asp171Tyr, NP_001265435.1:p.Asp160Tyr, NP_001310524.1:p.Asp171Tyr, NP_001310525.1:p.Asp171Tyr, NP_001310523.1:p.Asp148Tyr, NP_001310526.1:p.Asp122Tyr, XP_047290126.1:p.Asp160Tyr

Select item 14786121576.

rs1478612157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:10743975 (GRCh38)
16:10837832 (GRCh37)
Canonical SPDI:: NC_000016.10:10743974:G:A
Gene:: NUBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.10743975G>A, NC_000016.9:g.10837832G>A, NM_002484.4:c.34G>A, NM_002484.3:c.34G>A, NM_001278506.2:c.34G>A, NM_001278506.1:c.34G>A, NM_001323595.2:c.34G>A, NM_001323595.1:c.34G>A, NM_001323596.2:c.34G>A, NM_001323596.1:c.34G>A, NM_001323594.2:c.34G>A, NM_001323594.1:c.34G>A, NM_001323597.1:c.-114G>A, XM_047434170.1:c.34G>A, NP_002475.2:p.Asp12Asn, NP_001265435.1:p.Asp12Asn, NP_001310524.1:p.Asp12Asn, NP_001310525.1:p.Asp12Asn, NP_001310523.1:p.Asp12Asn, XP_047290126.1:p.Asp12Asn

Select item 14746762527.

rs1474676252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:10757988 (GRCh38)
16:10851845 (GRCh37)
Canonical SPDI:: NC_000016.10:10757987:A:G
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.10757988A>G, NC_000016.9:g.10851845A>G, NM_002484.4:c.567A>G, NM_002484.3:c.567A>G, XR_001751978.2:n.1103T>C, NM_001278506.2:c.534A>G, NM_001278506.1:c.534A>G, NM_001323595.2:c.567A>G, NM_001323595.1:c.567A>G, NM_001323596.2:c.567A>G, NM_001323596.1:c.567A>G, NM_001323594.2:c.498A>G, NM_001323594.1:c.498A>G, NM_001323597.1:c.420A>G, XM_047434170.1:c.534A>G

Select item 14735298388.

rs1473529838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:10769094 (GRCh38)
16:10862951 (GRCh37)
Canonical SPDI:: NC_000016.10:10769093:A:G
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.10769094A>G, NC_000016.9:g.10862951A>G, NM_001079512.4:c.*8T>C, NM_001079512.3:c.*8T>C, NM_001079512.2:c.*8T>C, NM_002484.4:c.952A>G, NM_002484.3:c.952A>G, XM_017023651.3:c.*385T>C, XM_017023651.2:c.*385T>C, XM_017023651.1:c.*385T>C, NM_001318873.2:c.*8T>C, NM_001318873.1:c.*8T>C, NM_001278506.2:c.919A>G, NM_001278506.1:c.919A>G, NM_001323595.2:c.868A>G, NM_001323595.1:c.868A>G, NM_001323596.2:c.*69A>G, NM_001323596.1:c.*69A>G, NM_001323594.2:c.799A>G, NM_001323594.1:c.799A>G, XR_007064909.1:n.1328T>C, XR_007064910.1:n.1328T>C, NM_001323597.1:c.*69A>G, XM_047434170.1:c.835A>G, NP_002475.2:p.Ile318Val, NP_001265435.1:p.Ile307Val, NP_001310524.1:p.Ile290Val, NP_001310523.1:p.Ile267Val, XP_047290126.1:p.Ile279Val

Select item 14728583479.

rs1472858347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:10757892 (GRCh38)
16:10851749 (GRCh37)
Canonical SPDI:: NC_000016.10:10757891:C:A,NC_000016.10:10757891:C:T
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.10757892C>A, NC_000016.10:g.10757892C>T, NC_000016.9:g.10851749C>A, NC_000016.9:g.10851749C>T, NM_002484.4:c.471C>A, NM_002484.4:c.471C>T, NM_002484.3:c.471C>A, NM_002484.3:c.471C>T, XR_001751978.2:n.1199G>T, XR_001751978.2:n.1199G>A, NM_001278506.2:c.438C>A, NM_001278506.2:c.438C>T, NM_001278506.1:c.438C>A, NM_001278506.1:c.438C>T, NM_001323595.2:c.471C>A, NM_001323595.2:c.471C>T, NM_001323595.1:c.471C>A, NM_001323595.1:c.471C>T, NM_001323596.2:c.471C>A, NM_001323596.2:c.471C>T, NM_001323596.1:c.471C>A, NM_001323596.1:c.471C>T, NM_001323594.2:c.402C>A, NM_001323594.2:c.402C>T, NM_001323594.1:c.402C>A, NM_001323594.1:c.402C>T, NM_001323597.1:c.324C>A, NM_001323597.1:c.324C>T, XM_047434170.1:c.438C>A, XM_047434170.1:c.438C>T

Select item 146485208810.

rs1464852088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:10769050 (GRCh38)
16:10862907 (GRCh37)
Canonical SPDI:: NC_000016.10:10769049:T:G
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_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_000016.10:g.10769050T>G, NC_000016.9:g.10862907T>G, NM_001079512.4:c.*52A>C, NM_001079512.3:c.*52A>C, NM_001079512.2:c.*52A>C, NM_002484.4:c.908T>G, NM_002484.3:c.908T>G, XM_017023651.3:c.*429A>C, XM_017023651.2:c.*429A>C, XM_017023651.1:c.*429A>C, NM_001318873.2:c.*52A>C, NM_001318873.1:c.*52A>C, NM_001278506.2:c.875T>G, NM_001278506.1:c.875T>G, NM_001323595.2:c.824T>G, NM_001323595.1:c.824T>G, NM_001323596.2:c.*25T>G, NM_001323596.1:c.*25T>G, NM_001323594.2:c.755T>G, NM_001323594.1:c.755T>G, XR_007064909.1:n.1372A>C, XR_007064910.1:n.1372A>C, NM_001323597.1:c.*25T>G, XM_047434170.1:c.791T>G, NP_002475.2:p.Ile303Ser, NP_001265435.1:p.Ile292Ser, NP_001310524.1:p.Ile275Ser, NP_001310523.1:p.Ile252Ser, XP_047290126.1:p.Ile264Ser

Select item 146435926911.

rs1464359269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:10743881 (GRCh38)
16:10837738 (GRCh37)
Canonical SPDI:: NC_000016.10:10743880:C:T
Gene:: NUBP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.10743881C>T, NC_000016.9:g.10837738C>T, NM_002484.4:c.18C>T, NM_002484.3:c.18C>T, NM_001278506.2:c.18C>T, NM_001278506.1:c.18C>T, NM_001323595.2:c.18C>T, NM_001323595.1:c.18C>T, NM_001323596.2:c.18C>T, NM_001323596.1:c.18C>T, NM_001323594.2:c.18C>T, NM_001323594.1:c.18C>T, NM_001323597.1:c.-130C>T, XM_047434170.1:c.18C>T

Select item 146433277612.

rs1464332776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:10761779 (GRCh38)
16:10855636 (GRCh37)
Canonical SPDI:: NC_000016.10:10761778:C:T
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.10761779C>T, NC_000016.9:g.10855636C>T, NM_002484.4:c.740C>T, NM_002484.3:c.740C>T, NM_001278506.2:c.707C>T, NM_001278506.1:c.707C>T, NM_001323595.2:c.740C>T, NM_001323595.1:c.740C>T, NM_001323594.2:c.671C>T, NM_001323594.1:c.671C>T, NM_001323597.1:c.593C>T, XM_047434170.1:c.707C>T, NP_002475.2:p.Pro247Leu, NP_001265435.1:p.Pro236Leu, NP_001310524.1:p.Pro247Leu, NP_001310523.1:p.Pro224Leu, NP_001310526.1:p.Pro198Leu, XP_047290126.1:p.Pro236Leu

Select item 145766925513.

rs1457669255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:10744052 (GRCh38)
16:10837909 (GRCh37)
Canonical SPDI:: NC_000016.10:10744051:C:T
Gene:: NUBP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.10744052C>T, NC_000016.9:g.10837909C>T, NM_002484.4:c.111C>T, NM_002484.3:c.111C>T, NM_001278506.2:c.111C>T, NM_001278506.1:c.111C>T, NM_001323595.2:c.111C>T, NM_001323595.1:c.111C>T, NM_001323596.2:c.111C>T, NM_001323596.1:c.111C>T, NM_001323594.2:c.111C>T, NM_001323594.1:c.111C>T, NM_001323597.1:c.-37C>T, XM_047434170.1:c.111C>T

Select item 145626245714.

rs1456262457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:10757936 (GRCh38)
16:10851793 (GRCh37)
Canonical SPDI:: NC_000016.10:10757935:C:T
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.10757936C>T, NC_000016.9:g.10851793C>T, NM_002484.4:c.515C>T, NM_002484.3:c.515C>T, XR_001751978.2:n.1155G>A, NM_001278506.2:c.482C>T, NM_001278506.1:c.482C>T, NM_001323595.2:c.515C>T, NM_001323595.1:c.515C>T, NM_001323596.2:c.515C>T, NM_001323596.1:c.515C>T, NM_001323594.2:c.446C>T, NM_001323594.1:c.446C>T, NM_001323597.1:c.368C>T, XM_047434170.1:c.482C>T, NP_002475.2:p.Thr172Ile, NP_001265435.1:p.Thr161Ile, NP_001310524.1:p.Thr172Ile, NP_001310525.1:p.Thr172Ile, NP_001310523.1:p.Thr149Ile, NP_001310526.1:p.Thr123Ile, XP_047290126.1:p.Thr161Ile

Select item 145516956515.

rs1455169565 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:10747226 (GRCh38)
16:10841083 (GRCh37)
Canonical SPDI:: NC_000016.10:10747225:A:G
Gene:: NUBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.10747226A>G, NC_000016.9:g.10841083A>G, NM_002484.4:c.208A>G, NM_002484.3:c.208A>G, NM_001278506.2:c.208A>G, NM_001278506.1:c.208A>G, NM_001323595.2:c.208A>G, NM_001323595.1:c.208A>G, NM_001323596.2:c.208A>G, NM_001323596.1:c.208A>G, NM_001323594.2:c.208A>G, NM_001323594.1:c.208A>G, NM_001323597.1:c.61A>G, XM_047434170.1:c.208A>G, NP_002475.2:p.Thr70Ala, NP_001265435.1:p.Thr70Ala, NP_001310524.1:p.Thr70Ala, NP_001310525.1:p.Thr70Ala, NP_001310523.1:p.Thr70Ala, NP_001310526.1:p.Thr21Ala, XP_047290126.1:p.Thr70Ala

Select item 145286559516.

rs1452865595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:10757917 (GRCh38)
16:10851774 (GRCh37)
Canonical SPDI:: NC_000016.10:10757916:G:A
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.10757917G>A, NC_000016.9:g.10851774G>A, NM_002484.4:c.496G>A, NM_002484.3:c.496G>A, XR_001751978.2:n.1174C>T, NM_001278506.2:c.463G>A, NM_001278506.1:c.463G>A, NM_001323595.2:c.496G>A, NM_001323595.1:c.496G>A, NM_001323596.2:c.496G>A, NM_001323596.1:c.496G>A, NM_001323594.2:c.427G>A, NM_001323594.1:c.427G>A, NM_001323597.1:c.349G>A, XM_047434170.1:c.463G>A, NP_002475.2:p.Asp166Asn, NP_001265435.1:p.Asp155Asn, NP_001310524.1:p.Asp166Asn, NP_001310525.1:p.Asp166Asn, NP_001310523.1:p.Asp143Asn, NP_001310526.1:p.Asp117Asn, XP_047290126.1:p.Asp155Asn

Select item 145027968117.

rs1450279681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:10756713 (GRCh38)
16:10850570 (GRCh37)
Canonical SPDI:: NC_000016.10:10756712:G:C
Gene:: NUBP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.10756713G>C, NC_000016.9:g.10850570G>C, NM_002484.4:c.384G>C, NM_002484.3:c.384G>C, NM_001278506.2:c.351G>C, NM_001278506.1:c.351G>C, NM_001323595.2:c.384G>C, NM_001323595.1:c.384G>C, NM_001323596.2:c.384G>C, NM_001323596.1:c.384G>C, NM_001323594.2:c.315G>C, NM_001323594.1:c.315G>C, NM_001323597.1:c.237G>C, XM_047434170.1:c.351G>C

Select item 144161883818.

rs1441618838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:10744029 (GRCh38)
16:10837886 (GRCh37)
Canonical SPDI:: NC_000016.10:10744028:C:T
Gene:: NUBP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000016.10:g.10744029C>T, NC_000016.9:g.10837886C>T, NM_002484.4:c.88C>T, NM_002484.3:c.88C>T, NM_001278506.2:c.88C>T, NM_001278506.1:c.88C>T, NM_001323595.2:c.88C>T, NM_001323595.1:c.88C>T, NM_001323596.2:c.88C>T, NM_001323596.1:c.88C>T, NM_001323594.2:c.88C>T, NM_001323594.1:c.88C>T, NM_001323597.1:c.-60C>T, XM_047434170.1:c.88C>T

Select item 144027757619.

rs1440277576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:10761852 (GRCh38)
16:10855709 (GRCh37)
Canonical SPDI:: NC_000016.10:10761851:G:A
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.10761852G>A, NC_000016.9:g.10855709G>A, NM_002484.4:c.813G>A, NM_002484.3:c.813G>A, NM_001278506.2:c.780G>A, NM_001278506.1:c.780G>A, NM_001323595.2:c.813G>A, NM_001323595.1:c.813G>A, NM_001323594.2:c.744G>A, NM_001323594.1:c.744G>A, NM_001323597.1:c.666G>A, XM_047434170.1:c.780G>A

Select item 143762170120.

rs1437621701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:10758006 (GRCh38)
16:10851863 (GRCh37)
Canonical SPDI:: NC_000016.10:10758005:A:G
Gene:: NUBP1 (Varview), TVP23A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_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_000016.10:g.10758006A>G, NC_000016.9:g.10851863A>G, NM_002484.4:c.585A>G, NM_002484.3:c.585A>G, XR_001751978.2:n.1085T>C, NM_001278506.2:c.552A>G, NM_001278506.1:c.552A>G, NM_001323595.2:c.585A>G, NM_001323595.1:c.585A>G, NM_001323596.2:c.585A>G, NM_001323596.1:c.585A>G, NM_001323594.2:c.516A>G, NM_001323594.1:c.516A>G, NM_001323597.1:c.438A>G, XM_047434170.1:c.552A>G

dbSNP

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