SNP Links for Protein (Select 767980766) - SNP

Links from Protein

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Select item 14882366001.

rs1488236600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:56579992 (GRCh38)
14:57046710 (GRCh37)
Canonical SPDI:: NC_000014.9:56579991:C:T
Gene:: TMEM260 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_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_000014.9:g.56579992C>T, NC_000014.8:g.57046710C>T, NM_017799.4:c.78C>T, NM_017799.3:c.78C>T, XM_011536851.3:c.78C>T, XM_011536851.2:c.78C>T, XM_011536851.1:c.78C>T, XR_007064017.1:n.195C>T, XR_007064018.1:n.195C>T, XM_047431495.1:c.78C>T, XR_007064019.1:n.195C>T, XM_047431497.1:c.78C>T

Select item 14880689612.

rs1488068961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:56603898 (GRCh38)
14:57070616 (GRCh37)
Canonical SPDI:: NC_000014.9:56603897:C:T
Gene:: TMEM260 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.56603898C>T, NC_000014.8:g.57070616C>T, NM_017799.4:c.428C>T, NM_017799.3:c.428C>T, XM_011536851.3:c.428C>T, XM_011536851.2:c.428C>T, XM_011536851.1:c.428C>T, XM_047431493.1:c.-41C>T, XM_047431494.1:c.-41C>T, XR_007064017.1:n.545C>T, XR_007064018.1:n.545C>T, XM_047431495.1:c.428C>T, XR_007064019.1:n.545C>T, XM_047431497.1:c.428C>T, NP_060269.3:p.Ala143Val, XP_011535153.1:p.Ala143Val, XP_047287451.1:p.Ala143Val, XP_047287453.1:p.Ala143Val

Select item 14879711743.

rs1487971174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:56605660 (GRCh38)
14:57072378 (GRCh37)
Canonical SPDI:: NC_000014.9:56605659:C:G
Gene:: TMEM260 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.56605660C>G, NC_000014.8:g.57072378C>G, NM_017799.4:c.613C>G, NM_017799.3:c.613C>G, XM_011536851.3:c.613C>G, XM_011536851.2:c.613C>G, XM_011536851.1:c.613C>G, XM_011536852.2:c.262C>G, XM_011536852.1:c.262C>G, XM_047431493.1:c.145C>G, XM_047431494.1:c.145C>G, XM_047431496.1:c.-228C>G, XR_007064017.1:n.730C>G, XR_007064018.1:n.730C>G, XM_047431495.1:c.613C>G, XR_007064019.1:n.730C>G, XM_047431497.1:c.613C>G, NP_060269.3:p.Leu205Val, XP_011535153.1:p.Leu205Val, XP_011535154.1:p.Leu88Val, XP_047287449.1:p.Leu49Val, XP_047287450.1:p.Leu49Val, XP_047287451.1:p.Leu205Val, XP_047287453.1:p.Leu205Val

Select item 14870556624.

rs1487055662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:56617223 (GRCh38)
14:57083941 (GRCh37)
Canonical SPDI:: NC_000014.9:56617222:A:G
Gene:: TMEM260 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.56617223A>G, NC_000014.8:g.57083941A>G, NM_017799.4:c.982A>G, NM_017799.3:c.982A>G, XM_011536851.3:c.982A>G, XM_011536851.2:c.982A>G, XM_011536851.1:c.982A>G, XM_011536852.2:c.631A>G, XM_011536852.1:c.631A>G, XM_047431493.1:c.514A>G, XM_047431494.1:c.514A>G, XM_047431496.1:c.142A>G, XR_007064017.1:n.1099A>G, XR_007064018.1:n.1099A>G, XM_047431495.1:c.982A>G, XR_007064019.1:n.1099A>G, XM_047431497.1:c.982A>G, NP_060269.3:p.Met328Val, XP_011535153.1:p.Met328Val, XP_011535154.1:p.Met211Val, XP_047287449.1:p.Met172Val, XP_047287450.1:p.Met172Val, XP_047287452.1:p.Met48Val, XP_047287451.1:p.Met328Val, XP_047287453.1:p.Met328Val

Select item 14831200425.

rs1483120042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:56603959 (GRCh38)
14:57070677 (GRCh37)
Canonical SPDI:: NC_000014.9:56603958:T:G
Gene:: TMEM260 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.56603959T>G, NC_000014.8:g.57070677T>G, NM_017799.4:c.489T>G, NM_017799.3:c.489T>G, XM_011536851.3:c.489T>G, XM_011536851.2:c.489T>G, XM_011536851.1:c.489T>G, XM_047431493.1:c.21T>G, XM_047431494.1:c.21T>G, XR_007064017.1:n.606T>G, XR_007064018.1:n.606T>G, XM_047431495.1:c.489T>G, XR_007064019.1:n.606T>G, XM_047431497.1:c.489T>G, NP_060269.3:p.Phe163Leu, XP_011535153.1:p.Phe163Leu, XP_047287449.1:p.Phe7Leu, XP_047287450.1:p.Phe7Leu, XP_047287451.1:p.Phe163Leu, XP_047287453.1:p.Phe163Leu

Select item 14797218326.

rs1479721832 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:56621653 (GRCh38)
14:57088372 (GRCh37)
Canonical SPDI:: NC_000014.9:56621653:G:GG
Gene:: TMEM260 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.56621654dup, NC_000014.8:g.57088372dup, NM_017799.4:c.1350dup, NM_017799.3:c.1350dup, XM_011536851.3:c.1350dup, XM_011536851.2:c.1350dup, XM_011536851.1:c.1350dup, XM_011536852.2:c.999dup, XM_011536852.1:c.999dup, XM_047431493.1:c.882dup, XM_047431494.1:c.882dup, XM_047431496.1:c.510dup, XM_047431498.1:c.309dup, XR_007064017.1:n.1467dup, XR_007064018.1:n.1467dup, XM_047431495.1:c.*95dup, NP_060269.3:p.His451fs, XP_011535153.1:p.His451fs, XP_011535154.1:p.His334fs, XP_047287449.1:p.His295fs, XP_047287450.1:p.His295fs, XP_047287452.1:p.His171fs, XP_047287454.1:p.His104fs

Select item 14779146357.

rs1477914635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:56636569 (GRCh38)
14:57103287 (GRCh37)
Canonical SPDI:: NC_000014.9:56636568:A:G
Gene:: TMEM260 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.56636569A>G, NC_000014.8:g.57103287A>G, NM_017799.4:c.1840A>G, NM_017799.3:c.1840A>G, XM_011536851.3:c.1840A>G, XM_011536851.2:c.1840A>G, XM_011536851.1:c.1840A>G, XM_011536852.2:c.1489A>G, XM_011536852.1:c.1489A>G, XM_047431493.1:c.1372A>G, XM_047431494.1:c.1372A>G, XM_047431496.1:c.1000A>G, XM_047431498.1:c.799A>G, XR_007064017.1:n.1957A>G, XR_007064018.1:n.2112A>G, NP_060269.3:p.Lys614Glu, XP_011535153.1:p.Lys614Glu, XP_011535154.1:p.Lys497Glu, XP_047287449.1:p.Lys458Glu, XP_047287450.1:p.Lys458Glu, XP_047287452.1:p.Lys334Glu, XP_047287454.1:p.Lys267Glu

Select item 14753275978.

rs1475327597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 14:56633148 (GRCh38)
14:57099866 (GRCh37)
Canonical SPDI:: NC_000014.9:56633147:T:A,NC_000014.9:56633147:T:C
Gene:: TMEM260 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,stop_gained,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.56633148T>A, NC_000014.9:g.56633148T>C, NC_000014.8:g.57099866T>A, NC_000014.8:g.57099866T>C, NM_017799.4:c.1701T>A, NM_017799.4:c.1701T>C, NM_017799.3:c.1701T>A, NM_017799.3:c.1701T>C, XM_011536851.3:c.1701T>A, XM_011536851.3:c.1701T>C, XM_011536851.2:c.1701T>A, XM_011536851.2:c.1701T>C, XM_011536851.1:c.1701T>A, XM_011536851.1:c.1701T>C, XM_011536852.2:c.1350T>A, XM_011536852.2:c.1350T>C, XM_011536852.1:c.1350T>A, XM_011536852.1:c.1350T>C, XM_047431493.1:c.1233T>A, XM_047431493.1:c.1233T>C, XM_047431494.1:c.1233T>A, XM_047431494.1:c.1233T>C, XM_047431496.1:c.861T>A, XM_047431496.1:c.861T>C, XM_047431498.1:c.660T>A, XM_047431498.1:c.660T>C, XR_007064017.1:n.1818T>A, XR_007064017.1:n.1818T>C, XR_007064018.1:n.1818T>A, XR_007064018.1:n.1818T>C, NP_060269.3:p.Tyr567Ter, XP_011535153.1:p.Tyr567Ter, XP_011535154.1:p.Tyr450Ter, XP_047287449.1:p.Tyr411Ter, XP_047287450.1:p.Tyr411Ter, XP_047287452.1:p.Tyr287Ter, XP_047287454.1:p.Tyr220Ter

Select item 14749535959.

rs1474953595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:56633043 (GRCh38)
14:57099761 (GRCh37)
Canonical SPDI:: NC_000014.9:56633042:G:A
Gene:: TMEM260 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.56633043G>A, NC_000014.8:g.57099761G>A, NM_017799.4:c.1596G>A, NM_017799.3:c.1596G>A, XM_011536851.3:c.1596G>A, XM_011536851.2:c.1596G>A, XM_011536851.1:c.1596G>A, XM_011536852.2:c.1245G>A, XM_011536852.1:c.1245G>A, XM_047431493.1:c.1128G>A, XM_047431494.1:c.1128G>A, XM_047431496.1:c.756G>A, XM_047431498.1:c.555G>A, XR_007064017.1:n.1713G>A, XR_007064018.1:n.1713G>A, NP_060269.3:p.Trp532Ter, XP_011535153.1:p.Trp532Ter, XP_011535154.1:p.Trp415Ter, XP_047287449.1:p.Trp376Ter, XP_047287450.1:p.Trp376Ter, XP_047287452.1:p.Trp252Ter, XP_047287454.1:p.Trp185Ter

Select item 147431147510.

rs1474311475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:56618668 (GRCh38)
14:57085386 (GRCh37)
Canonical SPDI:: NC_000014.9:56618667:T:C
Gene:: TMEM260 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.56618668T>C, NC_000014.8:g.57085386T>C, NM_017799.4:c.1131T>C, NM_017799.3:c.1131T>C, XM_011536851.3:c.1131T>C, XM_011536851.2:c.1131T>C, XM_011536851.1:c.1131T>C, XM_011536852.2:c.780T>C, XM_011536852.1:c.780T>C, XM_047431493.1:c.663T>C, XM_047431494.1:c.663T>C, XM_047431496.1:c.291T>C, XM_047431498.1:c.90T>C, XR_007064017.1:n.1248T>C, XR_007064018.1:n.1248T>C, XM_047431495.1:c.1131T>C, XR_007064019.1:n.1248T>C, XM_047431497.1:c.1131T>C

Select item 147277720711.

rs1472777207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 14:56585795 (GRCh38)
14:57052513 (GRCh37)
Canonical SPDI:: NC_000014.9:56585794:T:A,NC_000014.9:56585794:T:C
Gene:: TMEM260 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.56585795T>A, NC_000014.9:g.56585795T>C, NC_000014.8:g.57052513T>A, NC_000014.8:g.57052513T>C, NM_017799.4:c.227T>A, NM_017799.4:c.227T>C, NM_017799.3:c.227T>A, NM_017799.3:c.227T>C, XM_011536851.3:c.227T>A, XM_011536851.3:c.227T>C, XM_011536851.2:c.227T>A, XM_011536851.2:c.227T>C, XM_011536851.1:c.227T>A, XM_011536851.1:c.227T>C, XM_047431494.1:c.-242T>A, XM_047431494.1:c.-242T>C, XR_007064017.1:n.344T>A, XR_007064017.1:n.344T>C, XR_007064018.1:n.344T>A, XR_007064018.1:n.344T>C, XM_047431495.1:c.227T>A, XM_047431495.1:c.227T>C, XR_007064019.1:n.344T>A, XR_007064019.1:n.344T>C, XM_047431497.1:c.227T>A, XM_047431497.1:c.227T>C, NP_060269.3:p.Leu76Gln, NP_060269.3:p.Leu76Pro, XP_011535153.1:p.Leu76Gln, XP_011535153.1:p.Leu76Pro, XP_047287451.1:p.Leu76Gln, XP_047287451.1:p.Leu76Pro, XP_047287453.1:p.Leu76Gln, XP_047287453.1:p.Leu76Pro

Select item 147148727412.

rs1471487274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:56580016 (GRCh38)
14:57046734 (GRCh37)
Canonical SPDI:: NC_000014.9:56580015:C:A,NC_000014.9:56580015:C:T
Gene:: TMEM260 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,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)
A=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.56580016C>A, NC_000014.9:g.56580016C>T, NC_000014.8:g.57046734C>A, NC_000014.8:g.57046734C>T, NM_017799.4:c.102C>A, NM_017799.4:c.102C>T, NM_017799.3:c.102C>A, NM_017799.3:c.102C>T, XM_011536851.3:c.102C>A, XM_011536851.3:c.102C>T, XM_011536851.2:c.102C>A, XM_011536851.2:c.102C>T, XM_011536851.1:c.102C>A, XM_011536851.1:c.102C>T, XR_007064017.1:n.219C>A, XR_007064017.1:n.219C>T, XR_007064018.1:n.219C>A, XR_007064018.1:n.219C>T, XM_047431495.1:c.102C>A, XM_047431495.1:c.102C>T, XR_007064019.1:n.219C>A, XR_007064019.1:n.219C>T, XM_047431497.1:c.102C>A, XM_047431497.1:c.102C>T

Select item 147083349713.

rs1470833497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:56636528 (GRCh38)
14:57103246 (GRCh37)
Canonical SPDI:: NC_000014.9:56636527:T:C
Gene:: TMEM260 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.56636528T>C, NC_000014.8:g.57103246T>C, NM_017799.4:c.1799T>C, NM_017799.3:c.1799T>C, XM_011536851.3:c.1799T>C, XM_011536851.2:c.1799T>C, XM_011536851.1:c.1799T>C, XM_011536852.2:c.1448T>C, XM_011536852.1:c.1448T>C, XM_047431493.1:c.1331T>C, XM_047431494.1:c.1331T>C, XM_047431496.1:c.959T>C, XM_047431498.1:c.758T>C, XR_007064017.1:n.1916T>C, XR_007064018.1:n.2071T>C, NP_060269.3:p.Ile600Thr, XP_011535153.1:p.Ile600Thr, XP_011535154.1:p.Ile483Thr, XP_047287449.1:p.Ile444Thr, XP_047287450.1:p.Ile444Thr, XP_047287452.1:p.Ile320Thr, XP_047287454.1:p.Ile253Thr

Select item 146666686114.

rs1466666861 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCATCTTTAACCTGGCAGAAACTGCTC [Show Flanks]
Chromosome:: 14:56636524 (GRCh38)
14:57103243 (GRCh37)
Canonical SPDI:: NC_000014.9:56636524:TCATCTTTAACCTGGCAGAAACTGCTC:TCATCTTTAACCTGGCAGAAACTGCTCTCATCTTTAACCTGGCAGAAACTGCTC
Gene:: TMEM260 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_insertion,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCATCTTTAACCTGGCAGAAACTGCTCTCATCTTTAACCTGGCAGAAACTGCTC=0./0 (ALFA)
TCATCTTTAACCTGGCAGAAACTGCTC=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.56636525_56636551dup, NC_000014.8:g.57103243_57103269dup, NM_017799.4:c.1796_1822dup, NM_017799.3:c.1796_1822dup, XM_011536851.3:c.1796_1822dup, XM_011536851.2:c.1796_1822dup, XM_011536851.1:c.1796_1822dup, XM_011536852.2:c.1445_1471dup, XM_011536852.1:c.1445_1471dup, XM_047431493.1:c.1328_1354dup, XM_047431494.1:c.1328_1354dup, XM_047431496.1:c.956_982dup, XM_047431498.1:c.755_781dup, XR_007064017.1:n.1913_1939dup, XR_007064018.1:n.2068_2094dup, NP_060269.3:p.His608_Met609insLeuIlePheAsnLeuAlaGluThrAla, XP_011535153.1:p.His608_Met609insLeuIlePheAsnLeuAlaGluThrAla, XP_011535154.1:p.His491_Met492insLeuIlePheAsnLeuAlaGluThrAla, XP_047287449.1:p.His452_Met453insLeuIlePheAsnLeuAlaGluThrAla, XP_047287450.1:p.His452_Met453insLeuIlePheAsnLeuAlaGluThrAla, XP_047287452.1:p.His328_Met329insLeuIlePheAsnLeuAlaGluThrAla, XP_047287454.1:p.His261_Met262insLeuIlePheAsnLeuAlaGluThrAla

Select item 145906297215.

rs1459062972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:56605586 (GRCh38)
14:57072304 (GRCh37)
Canonical SPDI:: NC_000014.9:56605585:C:G,NC_000014.9:56605585:C:T
Gene:: TMEM260 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_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_000014.9:g.56605586C>G, NC_000014.9:g.56605586C>T, NC_000014.8:g.57072304C>G, NC_000014.8:g.57072304C>T, NM_017799.4:c.539C>G, NM_017799.4:c.539C>T, NM_017799.3:c.539C>G, NM_017799.3:c.539C>T, XM_011536851.3:c.539C>G, XM_011536851.3:c.539C>T, XM_011536851.2:c.539C>G, XM_011536851.2:c.539C>T, XM_011536851.1:c.539C>G, XM_011536851.1:c.539C>T, XM_011536852.2:c.188C>G, XM_011536852.2:c.188C>T, XM_011536852.1:c.188C>G, XM_011536852.1:c.188C>T, XM_047431493.1:c.71C>G, XM_047431493.1:c.71C>T, XM_047431494.1:c.71C>G, XM_047431494.1:c.71C>T, XM_047431496.1:c.-302C>G, XM_047431496.1:c.-302C>T, XR_007064017.1:n.656C>G, XR_007064017.1:n.656C>T, XR_007064018.1:n.656C>G, XR_007064018.1:n.656C>T, XM_047431495.1:c.539C>G, XM_047431495.1:c.539C>T, XR_007064019.1:n.656C>G, XR_007064019.1:n.656C>T, XM_047431497.1:c.539C>G, XM_047431497.1:c.539C>T, NP_060269.3:p.Ala180Gly, NP_060269.3:p.Ala180Val, XP_011535153.1:p.Ala180Gly, XP_011535153.1:p.Ala180Val, XP_011535154.1:p.Ala63Gly, XP_011535154.1:p.Ala63Val, XP_047287449.1:p.Ala24Gly, XP_047287449.1:p.Ala24Val, XP_047287450.1:p.Ala24Gly, XP_047287450.1:p.Ala24Val, XP_047287451.1:p.Ala180Gly, XP_047287451.1:p.Ala180Val, XP_047287453.1:p.Ala180Gly, XP_047287453.1:p.Ala180Val

Select item 145683989216.

rs1456839892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:56585907 (GRCh38)
14:57052625 (GRCh37)
Canonical SPDI:: NC_000014.9:56585906:T:C
Gene:: TMEM260 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.56585907T>C, NC_000014.8:g.57052625T>C, NM_017799.4:c.339T>C, NM_017799.3:c.339T>C, XM_011536851.3:c.339T>C, XM_011536851.2:c.339T>C, XM_011536851.1:c.339T>C, XM_011536852.2:c.-38T>C, XM_011536852.1:c.-38T>C, XM_047431493.1:c.-333T>C, XM_047431494.1:c.-130T>C, XM_047431496.1:c.-324T>C, XR_007064017.1:n.456T>C, XR_007064018.1:n.456T>C, XM_047431495.1:c.339T>C, XR_007064019.1:n.456T>C, XM_047431497.1:c.339T>C

Select item 144951701117.

rs1449517011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:56615967 (GRCh38)
14:57082685 (GRCh37)
Canonical SPDI:: NC_000014.9:56615966:C:A
Gene:: TMEM260 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_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_000014.9:g.56615967C>A, NC_000014.8:g.57082685C>A, NM_017799.4:c.881C>A, NM_017799.3:c.881C>A, XM_011536851.3:c.881C>A, XM_011536851.2:c.881C>A, XM_011536851.1:c.881C>A, XM_011536852.2:c.530C>A, XM_011536852.1:c.530C>A, XM_047431493.1:c.413C>A, XM_047431494.1:c.413C>A, XM_047431496.1:c.41C>A, XM_047431498.1:c.-46C>A, XR_007064017.1:n.998C>A, XR_007064018.1:n.998C>A, XM_047431495.1:c.881C>A, XR_007064019.1:n.998C>A, XM_047431497.1:c.881C>A, NP_060269.3:p.Thr294Asn, XP_011535153.1:p.Thr294Asn, XP_011535154.1:p.Thr177Asn, XP_047287449.1:p.Thr138Asn, XP_047287450.1:p.Thr138Asn, XP_047287452.1:p.Thr14Asn, XP_047287451.1:p.Thr294Asn, XP_047287453.1:p.Thr294Asn

Select item 144794047618.

rs1447940476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:56585839 (GRCh38)
14:57052557 (GRCh37)
Canonical SPDI:: NC_000014.9:56585838:G:A
Gene:: TMEM260 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_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_000014.9:g.56585839G>A, NC_000014.8:g.57052557G>A, NM_017799.4:c.271G>A, NM_017799.3:c.271G>A, XM_011536851.3:c.271G>A, XM_011536851.2:c.271G>A, XM_011536851.1:c.271G>A, XM_011536852.2:c.-106G>A, XM_011536852.1:c.-106G>A, XM_047431493.1:c.-401G>A, XM_047431494.1:c.-198G>A, XM_047431496.1:c.-392G>A, XR_007064017.1:n.388G>A, XR_007064018.1:n.388G>A, XM_047431495.1:c.271G>A, XR_007064019.1:n.388G>A, XM_047431497.1:c.271G>A, NP_060269.3:p.Ala91Thr, XP_011535153.1:p.Ala91Thr, XP_047287451.1:p.Ala91Thr, XP_047287453.1:p.Ala91Thr

Select item 144783365219.

rs1447833652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:56603847 (GRCh38)
14:57070565 (GRCh37)
Canonical SPDI:: NC_000014.9:56603846:C:T
Gene:: TMEM260 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.56603847C>T, NC_000014.8:g.57070565C>T, NM_017799.4:c.377C>T, NM_017799.3:c.377C>T, XM_011536851.3:c.377C>T, XM_011536851.2:c.377C>T, XM_011536851.1:c.377C>T, XM_047431493.1:c.-92C>T, XM_047431494.1:c.-92C>T, XR_007064017.1:n.494C>T, XR_007064018.1:n.494C>T, XM_047431495.1:c.377C>T, XR_007064019.1:n.494C>T, XM_047431497.1:c.377C>T, NP_060269.3:p.Ala126Val, XP_011535153.1:p.Ala126Val, XP_047287451.1:p.Ala126Val, XP_047287453.1:p.Ala126Val

Select item 144747205820.

rs1447472058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:56633034 (GRCh38)
14:57099752 (GRCh37)
Canonical SPDI:: NC_000014.9:56633033:C:T
Gene:: TMEM260 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.56633034C>T, NC_000014.8:g.57099752C>T, NM_017799.4:c.1587C>T, NM_017799.3:c.1587C>T, XM_011536851.3:c.1587C>T, XM_011536851.2:c.1587C>T, XM_011536851.1:c.1587C>T, XM_011536852.2:c.1236C>T, XM_011536852.1:c.1236C>T, XM_047431493.1:c.1119C>T, XM_047431494.1:c.1119C>T, XM_047431496.1:c.747C>T, XM_047431498.1:c.546C>T, XR_007064017.1:n.1704C>T, XR_007064018.1:n.1704C>T

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