SNP Links for Protein (Select 109659841) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:172283606 (GRCh38)
5:171710610 (GRCh37)
Canonical SPDI:: NC_000005.10:172283605:C:T
Gene:: UBTD2 (Varview), LOC100288254 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.172283606C>T, NC_000005.9:g.171710610C>T, NM_152277.3:c.60G>A, NM_152277.2:c.60G>A, XM_017010022.2:c.-77G>A, XM_017010022.1:c.-77G>A, XM_047417876.1:c.-209G>A

Select item 144022998011.

rs1440229980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:172212124 (GRCh38)
5:171639128 (GRCh37)
Canonical SPDI:: NC_000005.10:172212123:C:A
Gene:: UBTD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172212124C>A, NC_000005.9:g.171639128C>A, NM_152277.3:c.411G>T, NM_152277.2:c.411G>T, XM_017010022.2:c.279G>T, XM_017010022.1:c.279G>T, XM_047417876.1:c.279G>T, XM_047417875.1:c.279G>T, NP_689490.2:p.Glu137Asp, XP_016865511.1:p.Glu93Asp, XP_047273832.1:p.Glu93Asp, XP_047273831.1:p.Glu93Asp

Select item 144000813312.

rs1440008133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:172283653 (GRCh38)
5:171710657 (GRCh37)
Canonical SPDI:: NC_000005.10:172283652:C:A,NC_000005.10:172283652:C:T
Gene:: UBTD2 (Varview), LOC100288254 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.0003/1 (KOREAN)
HGVS:: NC_000005.10:g.172283653C>A, NC_000005.10:g.172283653C>T, NC_000005.9:g.171710657C>A, NC_000005.9:g.171710657C>T, NM_152277.3:c.13G>T, NM_152277.3:c.13G>A, NM_152277.2:c.13G>T, NM_152277.2:c.13G>A, XM_017010022.2:c.-124G>T, XM_017010022.2:c.-124G>A, XM_017010022.1:c.-124G>T, XM_017010022.1:c.-124G>A, XM_047417876.1:c.-256G>T, XM_047417876.1:c.-256G>A, NP_689490.2:p.Val5Leu, NP_689490.2:p.Val5Met

Select item 143968697213.

rs1439686972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:172211843 (GRCh38)
5:171638847 (GRCh37)
Canonical SPDI:: NC_000005.10:172211842:G:A
Gene:: UBTD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172211843G>A, NC_000005.9:g.171638847G>A, NM_152277.3:c.692C>T, NM_152277.2:c.692C>T, XM_017010022.2:c.560C>T, XM_017010022.1:c.560C>T, XM_047417876.1:c.560C>T, XM_047417875.1:c.560C>T, NP_689490.2:p.Pro231Leu, XP_016865511.1:p.Pro187Leu, XP_047273832.1:p.Pro187Leu, XP_047273831.1:p.Pro187Leu

Select item 143947168614.

rs1439471686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:172283641 (GRCh38)
5:171710645 (GRCh37)
Canonical SPDI:: NC_000005.10:172283640:G:A,NC_000005.10:172283640:G:T
Gene:: UBTD2 (Varview), LOC100288254 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000046/1 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000005.10:g.172283641G>A, NC_000005.10:g.172283641G>T, NC_000005.9:g.171710645G>A, NC_000005.9:g.171710645G>T, NM_152277.3:c.25C>T, NM_152277.3:c.25C>A, NM_152277.2:c.25C>T, NM_152277.2:c.25C>A, XM_017010022.2:c.-112C>T, XM_017010022.2:c.-112C>A, XM_017010022.1:c.-112C>T, XM_017010022.1:c.-112C>A, XM_047417876.1:c.-244C>T, XM_047417876.1:c.-244C>A, NP_689490.2:p.His9Tyr, NP_689490.2:p.His9Asn

Select item 143599188215.

rs1435991882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:172212065 (GRCh38)
5:171639069 (GRCh37)
Canonical SPDI:: NC_000005.10:172212064:C:T
Gene:: UBTD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172212065C>T, NC_000005.9:g.171639069C>T, NM_152277.3:c.470G>A, NM_152277.2:c.470G>A, XM_017010022.2:c.338G>A, XM_017010022.1:c.338G>A, XM_047417876.1:c.338G>A, XM_047417875.1:c.338G>A, NP_689490.2:p.Arg157His, XP_016865511.1:p.Arg113His, XP_047273832.1:p.Arg113His, XP_047273831.1:p.Arg113His

Select item 143341796416.

rs1433417964 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:172234288 (GRCh38)
5:171661292 (GRCh37)
Canonical SPDI:: NC_000005.10:172234287:A:C
Gene:: UBTD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172234288A>C, NC_000005.9:g.171661292A>C, NM_152277.3:c.141T>G, NM_152277.2:c.141T>G, XM_017010022.2:c.9T>G, XM_017010022.1:c.9T>G, XM_047417876.1:c.9T>G, XM_047417875.1:c.9T>G, NP_689490.2:p.Asp47Glu, XP_016865511.1:p.Asp3Glu, XP_047273832.1:p.Asp3Glu, XP_047273831.1:p.Asp3Glu

Select item 143243009017.

rs1432430090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:172234311 (GRCh38)
5:171661315 (GRCh37)
Canonical SPDI:: NC_000005.10:172234310:T:G
Gene:: UBTD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.172234311T>G, NC_000005.9:g.171661315T>G, NM_152277.3:c.118A>C, NM_152277.2:c.118A>C, XM_017010022.2:c.-15A>C, XM_017010022.1:c.-15A>C, XM_047417876.1:c.-15A>C, XM_047417875.1:c.-15A>C, NP_689490.2:p.Lys40Gln

Select item 142781708218.

rs1427817082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:172234147 (GRCh38)
5:171661151 (GRCh37)
Canonical SPDI:: NC_000005.10:172234146:A:G
Gene:: UBTD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.172234147A>G, NC_000005.9:g.171661151A>G, NM_152277.3:c.282T>C, NM_152277.2:c.282T>C, XM_017010022.2:c.150T>C, XM_017010022.1:c.150T>C, XM_047417876.1:c.150T>C, XM_047417875.1:c.150T>C

Select item 141843590719.

rs1418435907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:172212222 (GRCh38)
5:171639226 (GRCh37)
Canonical SPDI:: NC_000005.10:172212221:G:A
Gene:: UBTD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172212222G>A, NC_000005.9:g.171639226G>A, NM_152277.3:c.313C>T, NM_152277.2:c.313C>T, XM_017010022.2:c.181C>T, XM_017010022.1:c.181C>T, XM_047417876.1:c.181C>T, XM_047417875.1:c.181C>T, NP_689490.2:p.Leu105Phe, XP_016865511.1:p.Leu61Phe, XP_047273832.1:p.Leu61Phe, XP_047273831.1:p.Leu61Phe

Select item 141743967520.

rs1417439675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:172234266 (GRCh38)
5:171661270 (GRCh37)
Canonical SPDI:: NC_000005.10:172234265:C:T
Gene:: UBTD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172234266C>T, NC_000005.9:g.171661270C>T, NM_152277.3:c.163G>A, NM_152277.2:c.163G>A, XM_017010022.2:c.31G>A, XM_017010022.1:c.31G>A, XM_047417876.1:c.31G>A, XM_047417875.1:c.31G>A, NP_689490.2:p.Asp55Asn, XP_016865511.1:p.Asp11Asn, XP_047273832.1:p.Asp11Asn, XP_047273831.1:p.Asp11Asn

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