SNP Links for Protein (Select 116734685) - SNP

Links from Protein

Items: 1 to 20 of 400

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Select item 14893497221.

rs1489349722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:75542657 (GRCh38)
16:75576555 (GRCh37)
Canonical SPDI:: NC_000016.10:75542656:G:T
Gene:: TMEM231 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75542657G>T, NC_000016.9:g.75576555G>T, NG_033109.1:g.18630C>A, NM_001077418.3:c.609C>A, NM_001077418.2:c.609C>A, NR_074083.2:n.775C>A, NR_074083.1:n.809C>A, NM_001077416.2:c.768C>A, NM_001077419.1:c.261C>A, NR_074082.1:n.686C>A, NM_012126.1:c.-232C>A

Select item 14858232362.

rs1485823236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:75556078 (GRCh38)
16:75589976 (GRCh37)
Canonical SPDI:: NC_000016.10:75556077:C:G
Gene:: TMEM231 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75556078C>G, NC_000016.9:g.75589976C>G, NG_033109.1:g.5209G>C, NM_001077418.3:c.132G>C, NM_001077418.2:c.132G>C, NR_074083.2:n.175G>C, NR_074083.1:n.209G>C, NM_001077416.2:c.194G>C, NM_001077419.1:c.-340G>C, NR_074082.1:n.209G>C, NP_001070884.2:p.Gly65Ala

Select item 14849755993.

rs1484975599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:75555813 (GRCh38)
16:75589711 (GRCh37)
Canonical SPDI:: NC_000016.10:75555812:C:A
Gene:: TMEM231 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.75555813C>A, NC_000016.9:g.75589711C>A, NG_033109.1:g.5474G>T, NM_001077418.3:c.300G>T, NM_001077418.2:c.300G>T, NR_074083.2:n.343G>T, NR_074083.1:n.377G>T, NM_001077416.2:c.459G>T, NM_001077419.1:c.-172G>T, NR_074082.1:n.377G>T

Select item 14764077314.

rs1476407731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:75555817 (GRCh38)
16:75589715 (GRCh37)
Canonical SPDI:: NC_000016.10:75555816:A:C
Gene:: TMEM231 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75555817A>C, NC_000016.9:g.75589715A>C, NG_033109.1:g.5470T>G, NM_001077418.3:c.296T>G, NM_001077418.2:c.296T>G, NR_074083.2:n.339T>G, NR_074083.1:n.373T>G, NM_001077416.2:c.455T>G, NM_001077419.1:c.-176T>G, NR_074082.1:n.373T>G, NP_001070886.1:p.Val99Gly, NP_001070884.2:p.Val152Gly

Select item 14747733265.

rs1474773326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:75545914 (GRCh38)
16:75579812 (GRCh37)
Canonical SPDI:: NC_000016.10:75545913:A:G
Gene:: TMEM231 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.75545914A>G, NC_000016.9:g.75579812A>G, NG_033109.1:g.15373T>C, NM_001077418.3:c.350T>C, NM_001077418.2:c.350T>C, NR_074083.2:n.516T>C, NR_074083.1:n.550T>C, NM_001077416.2:c.509T>C, NM_001077419.1:c.2T>C, NR_074082.1:n.427T>C, NP_001070886.1:p.Met117Thr, NP_001070884.2:p.Met170Thr

Select item 14730662366.

rs1473066236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:75540120 (GRCh38)
16:75574018 (GRCh37)
Canonical SPDI:: NC_000016.10:75540119:G:A
Gene:: TMEM231 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75540120G>A, NC_000016.9:g.75574018G>A, NG_033109.1:g.21167C>T, NM_001077418.3:c.825C>T, NM_001077418.2:c.825C>T, NR_074083.2:n.991C>T, NR_074083.1:n.1025C>T, NM_001077416.2:c.984C>T, NG_029853.1:g.51C>T, NM_001077419.1:c.477C>T, NR_074082.1:n.902C>T

Select item 14729213417.

rs1472921341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:75541399 (GRCh38)
16:75575297 (GRCh37)
Canonical SPDI:: NC_000016.10:75541398:C:A
Gene:: TMEM231 (Varview)
Functional Consequence:: 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=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.75541399C>A, NC_000016.9:g.75575297C>A, NG_033109.1:g.19888G>T, NM_001077418.3:c.721G>T, NM_001077418.2:c.721G>T, NR_074083.2:n.887G>T, NR_074083.1:n.921G>T, NM_001077416.2:c.880G>T, NM_001077419.1:c.373G>T, NR_074082.1:n.798G>T, NP_001070886.1:p.Ala241Ser, NP_001070884.2:p.Ala294Ser

Select item 14722854008.

rs1472285400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:75541454 (GRCh38)
16:75575352 (GRCh37)
Canonical SPDI:: NC_000016.10:75541453:A:G
Gene:: TMEM231 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75541454A>G, NC_000016.9:g.75575352A>G, NG_033109.1:g.19833T>C, NM_001077418.3:c.666T>C, NM_001077418.2:c.666T>C, NR_074083.2:n.832T>C, NR_074083.1:n.866T>C, NM_001077416.2:c.825T>C, NM_001077419.1:c.318T>C, NR_074082.1:n.743T>C

Select item 14658283689.

rs1465828368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:75556164 (GRCh38)
16:75590062 (GRCh37)
Canonical SPDI:: NC_000016.10:75556163:G:A,NC_000016.10:75556163:G:T
Gene:: TMEM231 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.00003/5 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75556164G>A, NC_000016.10:g.75556164G>T, NC_000016.9:g.75590062G>A, NC_000016.9:g.75590062G>T, NG_033109.1:g.5123C>T, NG_033109.1:g.5123C>A, NM_001077418.3:c.46C>T, NM_001077418.3:c.46C>A, NM_001077418.2:c.46C>T, NM_001077418.2:c.46C>A, NR_074083.2:n.89C>T, NR_074083.2:n.89C>A, NR_074083.1:n.123C>T, NR_074083.1:n.123C>A, NM_001077416.2:c.108C>T, NM_001077416.2:c.108C>A, NM_001077419.1:c.-426C>T, NM_001077419.1:c.-426C>A, NR_074082.1:n.123C>T, NR_074082.1:n.123C>A, NP_001070886.1:p.Arg16Cys, NP_001070886.1:p.Arg16Ser

Select item 146437534910.

rs1464375349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:75540096 (GRCh38)
16:75573994 (GRCh37)
Canonical SPDI:: NC_000016.10:75540095:C:T
Gene:: TMEM231 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75540096C>T, NC_000016.9:g.75573994C>T, NG_033109.1:g.21191G>A, NM_001077418.3:c.849G>A, NM_001077418.2:c.849G>A, NR_074083.2:n.1015G>A, NR_074083.1:n.1049G>A, NM_001077416.2:c.1008G>A, NG_029853.1:g.75G>A, NM_001077419.1:c.501G>A, NR_074082.1:n.926G>A

Select item 146116132611.

rs1461161326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:75556151 (GRCh38)
16:75590049 (GRCh37)
Canonical SPDI:: NC_000016.10:75556150:C:G
Gene:: TMEM231 (Varview)
Functional Consequence:: 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=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.75556151C>G, NC_000016.9:g.75590049C>G, NG_033109.1:g.5136G>C, NM_001077418.3:c.59G>C, NM_001077418.2:c.59G>C, NR_074083.2:n.102G>C, NR_074083.1:n.136G>C, NM_001077416.2:c.121G>C, NM_001077419.1:c.-413G>C, NR_074082.1:n.136G>C, NP_001070886.1:p.Cys20Ser, NP_001070884.2:p.Ala41Pro

Select item 146079967512.

rs1460799675 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 16:75545829 (GRCh38)
16:75579727 (GRCh37)
Canonical SPDI:: NC_000016.10:75545828:T:
Gene:: TMEM231 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.75545829del, NC_000016.9:g.75579727del, NG_033109.1:g.15458del, NM_001077418.3:c.435del, NM_001077418.2:c.435del, NR_074083.2:n.601del, NR_074083.1:n.635del, NM_001077416.2:c.594del, NM_001077419.1:c.87del, NR_074082.1:n.512del, NP_001070886.1:p.Leu145fs, NP_001070884.2:p.Leu198fs

Select item 145968366613.

rs1459683666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:75540002 (GRCh38)
16:75573900 (GRCh37)
Canonical SPDI:: NC_000016.10:75540001:A:C,NC_000016.10:75540001:A:G
Gene:: TMEM231 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.75540002A>C, NC_000016.10:g.75540002A>G, NC_000016.9:g.75573900A>C, NC_000016.9:g.75573900A>G, NG_033109.1:g.21285T>G, NG_033109.1:g.21285T>C, NM_001077418.3:c.943T>G, NM_001077418.3:c.943T>C, NM_001077418.2:c.943T>G, NM_001077418.2:c.943T>C, NR_074083.2:n.1109T>G, NR_074083.2:n.1109T>C, NR_074083.1:n.1143T>G, NR_074083.1:n.1143T>C, NM_001077416.2:c.1102T>G, NM_001077416.2:c.1102T>C, NG_029853.1:g.169T>G, NG_029853.1:g.169T>C, NM_001077419.1:c.595T>G, NM_001077419.1:c.595T>C, NR_074082.1:n.1020T>G, NR_074082.1:n.1020T>C, NP_001070886.1:p.Leu315Val, NP_001070884.2:p.Leu368Val

Select item 145493116814.

rs1454931168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:75540037 (GRCh38)
16:75573935 (GRCh37)
Canonical SPDI:: NC_000016.10:75540036:G:A
Gene:: TMEM231 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.75540037G>A, NC_000016.9:g.75573935G>A, NG_033109.1:g.21250C>T, NM_001077418.3:c.908C>T, NM_001077418.2:c.908C>T, NR_074083.2:n.1074C>T, NR_074083.1:n.1108C>T, NM_001077416.2:c.1067C>T, NG_029853.1:g.134C>T, NM_001077419.1:c.560C>T, NR_074082.1:n.985C>T, NP_001070886.1:p.Thr303Ile, NP_001070884.2:p.Thr356Ile

Select item 145482901515.

rs1454829015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:75556161 (GRCh38)
16:75590059 (GRCh37)
Canonical SPDI:: NC_000016.10:75556160:C:T
Gene:: TMEM231 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_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_000016.10:g.75556161C>T, NC_000016.9:g.75590059C>T, NG_033109.1:g.5126G>A, NM_001077418.3:c.49G>A, NM_001077418.2:c.49G>A, NR_074083.2:n.92G>A, NR_074083.1:n.126G>A, NM_001077416.2:c.111G>A, NM_001077419.1:c.-423G>A, NR_074082.1:n.126G>A, NP_001070886.1:p.Ala17Thr

Select item 145205887316.

rs1452058873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:75545427 (GRCh38)
16:75579325 (GRCh37)
Canonical SPDI:: NC_000016.10:75545426:C:A
Gene:: TMEM231 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75545427C>A, NC_000016.9:g.75579325C>A, NG_033109.1:g.15860G>T, NM_001077418.3:c.507G>T, NM_001077418.2:c.507G>T, NR_074083.2:n.673G>T, NR_074083.1:n.707G>T, NM_001077416.2:c.666G>T, NM_001077419.1:c.159G>T, NR_074082.1:n.584G>T, NM_012126.1:c.-334G>T, NP_001070886.1:p.Gln169His, NP_001070884.2:p.Gln222His

Select item 145025015717.

rs1450250157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:75541379 (GRCh38)
16:75575277 (GRCh37)
Canonical SPDI:: NC_000016.10:75541378:A:G
Gene:: TMEM231 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75541379A>G, NC_000016.9:g.75575277A>G, NG_033109.1:g.19908T>C, NM_001077418.3:c.741T>C, NM_001077418.2:c.741T>C, NR_074083.2:n.907T>C, NR_074083.1:n.941T>C, NM_001077416.2:c.900T>C, NM_001077419.1:c.393T>C, NR_074082.1:n.818T>C

Select item 144911016018.

rs1449110160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:75545860 (GRCh38)
16:75579758 (GRCh37)
Canonical SPDI:: NC_000016.10:75545859:A:G,NC_000016.10:75545859:A:T
Gene:: TMEM231 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75545860A>G, NC_000016.10:g.75545860A>T, NC_000016.9:g.75579758A>G, NC_000016.9:g.75579758A>T, NG_033109.1:g.15427T>C, NG_033109.1:g.15427T>A, NM_001077418.3:c.404T>C, NM_001077418.3:c.404T>A, NM_001077418.2:c.404T>C, NM_001077418.2:c.404T>A, NR_074083.2:n.570T>C, NR_074083.2:n.570T>A, NR_074083.1:n.604T>C, NR_074083.1:n.604T>A, NM_001077416.2:c.563T>C, NM_001077416.2:c.563T>A, NM_001077419.1:c.56T>C, NM_001077419.1:c.56T>A, NR_074082.1:n.481T>C, NR_074082.1:n.481T>A, NP_001070886.1:p.Val135Ala, NP_001070886.1:p.Val135Glu, NP_001070884.2:p.Val188Ala, NP_001070884.2:p.Val188Glu

Select item 144774787919.

rs1447747879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:75539997 (GRCh38)
16:75573895 (GRCh37)
Canonical SPDI:: NC_000016.10:75539996:G:C
Gene:: TMEM231 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.75539997G>C, NC_000016.9:g.75573895G>C, NG_033109.1:g.21290C>G, NM_001077418.3:c.948C>G, NM_001077418.2:c.948C>G, NR_074083.2:n.1114C>G, NR_074083.1:n.1148C>G, NM_001077416.2:c.1107C>G, NG_029853.1:g.174C>G, NM_001077419.1:c.600C>G, NR_074082.1:n.1025C>G

Select item 144623406520.

rs1446234065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:75545415 (GRCh38)
16:75579313 (GRCh37)
Canonical SPDI:: NC_000016.10:75545414:G:A
Gene:: TMEM231 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.75545415G>A, NC_000016.9:g.75579313G>A, NG_033109.1:g.15872C>T, NM_001077418.3:c.519C>T, NM_001077418.2:c.519C>T, NR_074083.2:n.685C>T, NR_074083.1:n.719C>T, NM_001077416.2:c.678C>T, NM_001077419.1:c.171C>T, NR_074082.1:n.596C>T, NM_012126.1:c.-322C>T

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