SNP Links for Protein (Select 226437592) - SNP

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Links from Protein

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Select item 14857106161.

rs1485710616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:8569865 (GRCh38)
16:8619867 (GRCh37)
Canonical SPDI:: NC_000016.10:8569864:T:C
Gene:: TMEM114 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000016.10:g.8569865T>C, NC_000016.9:g.8619867T>C, NG_041767.1:g.25329A>G, NM_001290097.2:c.337A>G, NM_001290097.1:c.337A>G, NM_001146336.1:c.580A>G, NM_001146336.2:c.580A>G, NM_001290095.1:c.442A>G, NM_001290095.2:c.442A>G, NP_001277026.1:p.Ile113Val, NP_001139808.1:p.Ile194Val, NP_001277024.1:p.Ile148Val

Select item 14820365122.

rs1482036512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:8569908 (GRCh38)
16:8619910 (GRCh37)
Canonical SPDI:: NC_000016.10:8569907:G:A
Gene:: TMEM114 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.8569908G>A, NC_000016.9:g.8619910G>A, NG_041767.1:g.25286C>T, NM_001290097.2:c.294C>T, NM_001290097.1:c.294C>T, NM_001146336.1:c.537C>T, NM_001146336.2:c.537C>T, NM_001290095.1:c.399C>T, NM_001290095.2:c.399C>T

Select item 14818208713.

rs1481820871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:8569857 (GRCh38)
16:8619859 (GRCh37)
Canonical SPDI:: NC_000016.10:8569856:G:A,NC_000016.10:8569856:G:C,NC_000016.10:8569856:G:T
Gene:: TMEM114 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000013/2 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.8569857G>A, NC_000016.10:g.8569857G>C, NC_000016.10:g.8569857G>T, NC_000016.9:g.8619859G>A, NC_000016.9:g.8619859G>C, NC_000016.9:g.8619859G>T, NG_041767.1:g.25337C>T, NG_041767.1:g.25337C>G, NG_041767.1:g.25337C>A, NM_001290097.2:c.345C>T, NM_001290097.2:c.345C>G, NM_001290097.2:c.345C>A, NM_001290097.1:c.345C>T, NM_001290097.1:c.345C>G, NM_001290097.1:c.345C>A, NM_001146336.1:c.588C>T, NM_001146336.1:c.588C>G, NM_001146336.1:c.588C>A, NM_001146336.2:c.588C>T, NM_001146336.2:c.588C>G, NM_001146336.2:c.588C>A, NM_001290095.1:c.450C>T, NM_001290095.1:c.450C>G, NM_001290095.1:c.450C>A, NM_001290095.2:c.450C>T, NM_001290095.2:c.450C>G, NM_001290095.2:c.450C>A, NP_001277026.1:p.Phe115Leu, NP_001277026.1:p.Phe115Leu, NP_001139808.1:p.Phe196Leu, NP_001139808.1:p.Phe196Leu, NP_001277024.1:p.Phe150Leu, NP_001277024.1:p.Phe150Leu

Select item 14817189054.

rs1481718905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:8589696 (GRCh38)
16:-1 (GRCh37)
Canonical SPDI:: NC_000016.10:8589695:T:C
Gene:: TMEM114 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.8589696T>C, NG_041767.1:g.5498A>G, NR_110736.2:n.143A>G, NR_110736.1:n.143A>G, NM_001146336.1:c.143A>G, NM_001146336.2:c.143A>G, NM_001290095.1:c.143A>G, NM_001290095.2:c.143A>G, NM_001290098.1:c.143A>G, NP_001139808.1:p.Gln48Arg, NP_001277024.1:p.Gln48Arg, NP_001277027.1:p.Gln48Arg

Select item 14816198185.

rs1481619818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:8569953 (GRCh38)
16:8619955 (GRCh37)
Canonical SPDI:: NC_000016.10:8569952:G:A
Gene:: TMEM114 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.8569953G>A, NC_000016.9:g.8619955G>A, NG_041767.1:g.25241C>T, NM_001290097.2:c.249C>T, NM_001290097.1:c.249C>T, NM_001146336.1:c.492C>T, NM_001146336.2:c.492C>T, NM_001290095.1:c.354C>T, NM_001290095.2:c.354C>T

Select item 14813970086.

rs1481397008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:8569918 (GRCh38)
16:8619920 (GRCh37)
Canonical SPDI:: NC_000016.10:8569917:G:A,NC_000016.10:8569917:G:C
Gene:: TMEM114 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.8569918G>A, NC_000016.10:g.8569918G>C, NC_000016.9:g.8619920G>A, NC_000016.9:g.8619920G>C, NG_041767.1:g.25276C>T, NG_041767.1:g.25276C>G, NM_001290097.2:c.284C>T, NM_001290097.2:c.284C>G, NM_001290097.1:c.284C>T, NM_001290097.1:c.284C>G, NM_001146336.1:c.527C>T, NM_001146336.1:c.527C>G, NM_001146336.2:c.527C>T, NM_001146336.2:c.527C>G, NM_001290095.1:c.389C>T, NM_001290095.1:c.389C>G, NM_001290095.2:c.389C>T, NM_001290095.2:c.389C>G, NP_001277026.1:p.Ala95Val, NP_001277026.1:p.Ala95Gly, NP_001139808.1:p.Ala176Val, NP_001139808.1:p.Ala176Gly, NP_001277024.1:p.Ala130Val, NP_001277024.1:p.Ala130Gly

Select item 14789073667.

rs1478907366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:8569988 (GRCh38)
16:8619990 (GRCh37)
Canonical SPDI:: NC_000016.10:8569987:C:T
Gene:: TMEM114 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.8569988C>T, NC_000016.9:g.8619990C>T, NG_041767.1:g.25206G>A, NM_001290097.2:c.214G>A, NM_001290097.1:c.214G>A, NM_001146336.1:c.457G>A, NM_001146336.2:c.457G>A, NM_001290095.1:c.319G>A, NM_001290095.2:c.319G>A, NP_001277026.1:p.Gly72Arg, NP_001139808.1:p.Gly153Arg, NP_001277024.1:p.Gly107Arg

Select item 14745870928.

rs1474587092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:8589283 (GRCh38)
16:-1 (GRCh37)
Canonical SPDI:: NC_000016.10:8589282:C:G,NC_000016.10:8589282:C:T
Gene:: TMEM114 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.8589283C>G, NC_000016.10:g.8589283C>T, NG_041767.1:g.5911G>C, NG_041767.1:g.5911G>A, NM_001290097.2:c.-13G>C, NM_001290097.2:c.-13G>A, NM_001290097.1:c.-13G>C, NM_001290097.1:c.-13G>A, NR_110736.2:n.231G>C, NR_110736.2:n.231G>A, NR_110736.1:n.231G>C, NR_110736.1:n.231G>A, NM_001146336.1:c.231G>C, NM_001146336.1:c.231G>A, NM_001146336.2:c.231G>C, NM_001146336.2:c.231G>A, NM_001290095.1:c.231G>C, NM_001290095.1:c.231G>A, NM_001290095.2:c.231G>C, NM_001290095.2:c.231G>A, NM_001290098.1:c.231G>C, NM_001290098.1:c.231G>A

Select item 14713896309.

rs1471389630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:8569803 (GRCh38)
16:8619805 (GRCh37)
Canonical SPDI:: NC_000016.10:8569802:G:A
Gene:: TMEM114 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000016.10:g.8569803G>A, NC_000016.9:g.8619805G>A, NG_041767.1:g.25391C>T, NM_001290097.2:c.399C>T, NM_001290097.1:c.399C>T, NM_001146336.1:c.642C>T, NM_001146336.2:c.642C>T, NM_001290095.1:c.504C>T, NM_001290095.2:c.504C>T

Select item 146972605410.

rs1469726054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:8589286 (GRCh38)
16:-1 (GRCh37)
Canonical SPDI:: NC_000016.10:8589285:G:C,NC_000016.10:8589285:G:T
Gene:: TMEM114 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.8589286G>C, NC_000016.10:g.8589286G>T, NG_041767.1:g.5908C>G, NG_041767.1:g.5908C>A, NM_001290097.2:c.-16C>G, NM_001290097.2:c.-16C>A, NM_001290097.1:c.-16C>G, NM_001290097.1:c.-16C>A, NR_110736.2:n.228C>G, NR_110736.2:n.228C>A, NR_110736.1:n.228C>G, NR_110736.1:n.228C>A, NM_001146336.1:c.228C>G, NM_001146336.1:c.228C>A, NM_001146336.2:c.228C>G, NM_001146336.2:c.228C>A, NM_001290095.1:c.228C>G, NM_001290095.1:c.228C>A, NM_001290095.2:c.228C>G, NM_001290095.2:c.228C>A, NM_001290098.1:c.228C>G, NM_001290098.1:c.228C>A, NP_001139808.1:p.Ser76Arg, NP_001139808.1:p.Ser76Arg, NP_001277024.1:p.Ser76Arg, NP_001277024.1:p.Ser76Arg, NP_001277027.1:p.Ser76Arg, NP_001277027.1:p.Ser76Arg

Select item 146523175811.

rs1465231758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:8569787 (GRCh38)
16:8619789 (GRCh37)
Canonical SPDI:: NC_000016.10:8569786:C:A,NC_000016.10:8569786:C:T
Gene:: TMEM114 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.00002/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.8569787C>A, NC_000016.10:g.8569787C>T, NC_000016.9:g.8619789C>A, NC_000016.9:g.8619789C>T, NG_041767.1:g.25407G>T, NG_041767.1:g.25407G>A, NM_001290097.2:c.415G>T, NM_001290097.2:c.415G>A, NM_001290097.1:c.415G>T, NM_001290097.1:c.415G>A, NM_001146336.1:c.658G>T, NM_001146336.1:c.658G>A, NM_001146336.2:c.658G>T, NM_001146336.2:c.658G>A, NM_001290095.1:c.520G>T, NM_001290095.1:c.520G>A, NM_001290095.2:c.520G>T, NM_001290095.2:c.520G>A, NP_001277026.1:p.Asp139Tyr, NP_001277026.1:p.Asp139Asn, NP_001139808.1:p.Asp220Tyr, NP_001139808.1:p.Asp220Asn, NP_001277024.1:p.Asp174Tyr, NP_001277024.1:p.Asp174Asn

Select item 146315257712.

rs1463152577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:8589639 (GRCh38)
16:-1 (GRCh37)
Canonical SPDI:: NC_000016.10:8589638:C:T
Gene:: TMEM114 (Varview)
Functional Consequence:: intron_variant,non_coding_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=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.8589639C>T, NG_041767.1:g.5555G>A, NR_110736.2:n.200G>A, NR_110736.1:n.200G>A, NM_001146336.1:c.200G>A, NM_001146336.2:c.200G>A, NM_001290095.1:c.200G>A, NM_001290095.2:c.200G>A, NM_001290098.1:c.200G>A, NP_001139808.1:p.Gly67Asp, NP_001277024.1:p.Gly67Asp, NP_001277027.1:p.Gly67Asp

Select item 146149231213.

rs1461492312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:8569970 (GRCh38)
16:8619972 (GRCh37)
Canonical SPDI:: NC_000016.10:8569969:C:T
Gene:: TMEM114 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000027/4 (GnomAD_exomes)
HGVS:: NC_000016.10:g.8569970C>T, NC_000016.9:g.8619972C>T, NG_041767.1:g.25224G>A, NM_001290097.2:c.232G>A, NM_001290097.1:c.232G>A, NM_001146336.1:c.475G>A, NM_001146336.2:c.475G>A, NM_001290095.1:c.337G>A, NM_001290095.2:c.337G>A, NP_001277026.1:p.Ala78Thr, NP_001139808.1:p.Ala159Thr, NP_001277024.1:p.Ala113Thr

Select item 146124972314.

rs1461249723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:8589273 (GRCh38)
16:-1 (GRCh37)
Canonical SPDI:: NC_000016.10:8589272:G:C
Gene:: TMEM114 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.8589273G>C, NG_041767.1:g.5921C>G, NM_001290097.2:c.-3C>G, NM_001290097.1:c.-3C>G, NR_110736.2:n.241C>G, NR_110736.1:n.241C>G, NM_001146336.1:c.241C>G, NM_001146336.2:c.241C>G, NM_001290095.1:c.241C>G, NM_001290095.2:c.241C>G, NM_001290098.1:c.241C>G, NP_001139808.1:p.Leu81Val, NP_001277024.1:p.Leu81Val, NP_001277027.1:p.Leu81Val

Select item 145584205815.

rs1455842058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:8589790 (GRCh38)
16:-1 (GRCh37)
Canonical SPDI:: NC_000016.10:8589789:C:T
Gene:: TMEM114 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000042/11 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000016.10:g.8589790C>T, NG_041767.1:g.5404G>A, NR_110736.2:n.49G>A, NR_110736.1:n.49G>A, NM_001146336.1:c.49G>A, NM_001146336.2:c.49G>A, NM_001290095.1:c.49G>A, NM_001290095.2:c.49G>A, NM_001290098.1:c.49G>A, NP_001139808.1:p.Ala17Thr, NP_001277024.1:p.Ala17Thr, NP_001277027.1:p.Ala17Thr

Select item 145561930316.

rs1455619303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:8569817 (GRCh38)
16:8619819 (GRCh37)
Canonical SPDI:: NC_000016.10:8569816:C:T
Gene:: TMEM114 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.8569817C>T, NC_000016.9:g.8619819C>T, NG_041767.1:g.25377G>A, NM_001290097.2:c.385G>A, NM_001290097.1:c.385G>A, NM_001146336.1:c.628G>A, NM_001146336.2:c.628G>A, NM_001290095.1:c.490G>A, NM_001290095.2:c.490G>A, NP_001277026.1:p.Ala129Thr, NP_001139808.1:p.Ala210Thr, NP_001277024.1:p.Ala164Thr

Select item 145483842317.

rs1454838423 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:8569776 (GRCh38)
16:8619778 (GRCh37)
Canonical SPDI:: NC_000016.10:8569775:T:A,NC_000016.10:8569775:T:C
Gene:: TMEM114 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.8569776T>A, NC_000016.10:g.8569776T>C, NC_000016.9:g.8619778T>A, NC_000016.9:g.8619778T>C, NG_041767.1:g.25418A>T, NG_041767.1:g.25418A>G, NM_001290097.2:c.426A>T, NM_001290097.2:c.426A>G, NM_001290097.1:c.426A>T, NM_001290097.1:c.426A>G, NM_001146336.1:c.669A>T, NM_001146336.1:c.669A>G, NM_001146336.2:c.669A>T, NM_001146336.2:c.669A>G, NM_001290095.1:c.531A>T, NM_001290095.1:c.531A>G, NM_001290095.2:c.531A>T, NM_001290095.2:c.531A>G, NP_001277026.1:p.Ile142Met, NP_001139808.1:p.Ile223Met, NP_001277024.1:p.Ile177Met

Select item 145316433918.

rs1453164339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:8589684 (GRCh38)
16:-1 (GRCh37)
Canonical SPDI:: NC_000016.10:8589683:C:G
Gene:: TMEM114 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.8589684C>G, NG_041767.1:g.5510G>C, NR_110736.2:n.155G>C, NR_110736.1:n.155G>C, NM_001146336.1:c.155G>C, NM_001146336.2:c.155G>C, NM_001290095.1:c.155G>C, NM_001290095.2:c.155G>C, NM_001290098.1:c.155G>C, NP_001139808.1:p.Gly52Ala, NP_001277024.1:p.Gly52Ala, NP_001277027.1:p.Gly52Ala

Select item 145301783419.

rs1453017834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:8569949 (GRCh38)
16:8619951 (GRCh37)
Canonical SPDI:: NC_000016.10:8569948:G:A
Gene:: TMEM114 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0002/1 (1000Genomes)
HGVS:: NC_000016.10:g.8569949G>A, NC_000016.9:g.8619951G>A, NG_041767.1:g.25245C>T, NM_001290097.2:c.253C>T, NM_001290097.1:c.253C>T, NM_001146336.1:c.496C>T, NM_001146336.2:c.496C>T, NM_001290095.1:c.358C>T, NM_001290095.2:c.358C>T, NP_001277026.1:p.Arg85Trp, NP_001139808.1:p.Arg166Trp, NP_001277024.1:p.Arg120Trp

Select item 144988980420.

rs1449889804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:8569911 (GRCh38)
16:8619913 (GRCh37)
Canonical SPDI:: NC_000016.10:8569910:C:T
Gene:: TMEM114 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.8569911C>T, NC_000016.9:g.8619913C>T, NG_041767.1:g.25283G>A, NM_001290097.2:c.291G>A, NM_001290097.1:c.291G>A, NM_001146336.1:c.534G>A, NM_001146336.2:c.534G>A, NM_001290095.1:c.396G>A, NM_001290095.2:c.396G>A

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