SNP Links for Protein (Select 256985100) - SNP

Links from Protein

Items: 1 to 20 of 387

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Select item 14885060631.

rs1488506063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:115625766 (GRCh38)
5:114961463 (GRCh37)
Canonical SPDI:: NC_000005.10:115625765:G:C
Gene:: TMED7 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.115625766G>C, NC_000005.9:g.114961463G>C, NM_181836.6:c.27C>G, NM_181836.5:c.27C>G, NM_001164469.4:c.27C>G, NM_001164469.3:c.27C>G, NM_001164469.2:c.27C>G, NM_001164468.4:c.27C>G, NM_001164468.3:c.27C>G, NM_001164468.2:c.27C>G

Select item 14879252742.

rs1487925274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:115625688 (GRCh38)
5:114961385 (GRCh37)
Canonical SPDI:: NC_000005.10:115625687:A:C,NC_000005.10:115625687:A:T
Gene:: TMED7 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.115625688A>C, NC_000005.10:g.115625688A>T, NC_000005.9:g.114961385A>C, NC_000005.9:g.114961385A>T, NM_181836.6:c.105T>G, NM_181836.6:c.105T>A, NM_181836.5:c.105T>G, NM_181836.5:c.105T>A, NM_001164469.4:c.105T>G, NM_001164469.4:c.105T>A, NM_001164469.3:c.105T>G, NM_001164469.3:c.105T>A, NM_001164469.2:c.105T>G, NM_001164469.2:c.105T>A, NM_001164468.4:c.105T>G, NM_001164468.4:c.105T>A, NM_001164468.3:c.105T>G, NM_001164468.3:c.105T>A, NM_001164468.2:c.105T>G, NM_001164468.2:c.105T>A

Select item 14877356173.

rs1487735617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:115581023 (GRCh38)
5:114916720 (GRCh37)
Canonical SPDI:: NC_000005.10:115581022:G:A
Gene:: TICAM2 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (KOREAN)
A=0.000004/1 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.115581023G>A, NC_000005.9:g.114916720G>A, NM_021649.7:c.234C>T, NM_021649.6:c.234C>T, NM_001164469.4:c.*292C>T, NM_001164469.3:c.*292C>T, NM_001164469.2:c.*292C>T, NM_001164468.4:c.741C>T, NM_001164468.3:c.741C>T, NM_001164468.2:c.741C>T

Select item 14844531314.

rs1484453131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:115620654 (GRCh38)
5:114956351 (GRCh37)
Canonical SPDI:: NC_000005.10:115620653:T:C
Gene:: TMED7 (Varview), TMED7-TICAM2 (Varview), TICAM2-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_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_000005.10:g.115620654T>C, NC_000005.9:g.114956351T>C, NM_181836.6:c.219A>G, NM_181836.5:c.219A>G, NM_001164469.4:c.219A>G, NM_001164469.3:c.219A>G, NM_001164469.2:c.219A>G, NM_001164468.4:c.219A>G, NM_001164468.3:c.219A>G, NM_001164468.2:c.219A>G

Select item 14837903875.

rs1483790387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:115625762 (GRCh38)
5:114961459 (GRCh37)
Canonical SPDI:: NC_000005.10:115625761:C:A
Gene:: TMED7 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.115625762C>A, NC_000005.9:g.114961459C>A, NM_181836.6:c.31G>T, NM_181836.5:c.31G>T, NM_001164469.4:c.31G>T, NM_001164469.3:c.31G>T, NM_001164469.2:c.31G>T, NM_001164468.4:c.31G>T, NM_001164468.3:c.31G>T, NM_001164468.2:c.31G>T, NP_861974.1:p.Ala11Ser, NP_001157941.1:p.Ala11Ser, NP_001157940.1:p.Ala11Ser

Select item 14830350266.

rs1483035026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:115581088 (GRCh38)
5:114916785 (GRCh37)
Canonical SPDI:: NC_000005.10:115581087:C:T
Gene:: TICAM2 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.115581088C>T, NC_000005.9:g.114916785C>T, NM_021649.7:c.169G>A, NM_021649.6:c.169G>A, NM_001164469.4:c.*227G>A, NM_001164469.3:c.*227G>A, NM_001164469.2:c.*227G>A, NM_001164468.4:c.676G>A, NM_001164468.3:c.676G>A, NM_001164468.2:c.676G>A, NP_067681.1:p.Gly57Arg, NP_001157940.1:p.Gly226Arg

Select item 14828101737.

rs1482810173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:115620636 (GRCh38)
5:114956333 (GRCh37)
Canonical SPDI:: NC_000005.10:115620635:A:T
Gene:: TMED7 (Varview), TMED7-TICAM2 (Varview), TICAM2-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.115620636A>T, NC_000005.9:g.114956333A>T, NM_181836.6:c.237T>A, NM_181836.5:c.237T>A, NM_001164469.4:c.237T>A, NM_001164469.3:c.237T>A, NM_001164469.2:c.237T>A, NM_001164468.4:c.237T>A, NM_001164468.3:c.237T>A, NM_001164468.2:c.237T>A, NP_861974.1:p.Asp79Glu, NP_001157941.1:p.Asp79Glu, NP_001157940.1:p.Asp79Glu

Select item 14817775998.

rs1481777599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:115616426 (GRCh38)
5:114952123 (GRCh37)
Canonical SPDI:: NC_000005.10:115616425:G:A
Gene:: TMED7 (Varview), TMED7-TICAM2 (Varview), TICAM2-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000005.10:g.115616426G>A, NC_000005.9:g.114952123G>A, NM_181836.6:c.458C>T, NM_181836.5:c.458C>T, NM_001164469.4:c.458C>T, NM_001164469.3:c.458C>T, NM_001164469.2:c.458C>T, NM_001164468.4:c.458C>T, NM_001164468.3:c.458C>T, NM_001164468.2:c.458C>T, NP_861974.1:p.Ser153Leu, NP_001157941.1:p.Ser153Leu, NP_001157940.1:p.Ser153Leu

Select item 14807794779.

rs1480779477 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCCCTCTGTTGTATTG [Show Flanks]
Chromosome:: 5:115581090 (GRCh38)
5:114916788 (GRCh37)
Canonical SPDI:: NC_000005.10:115581090:TTGGCCCCTCTGTTGTATTG:TTGGCCCCTCTGTTGTATTGGCCCCTCTGTTGTATTG
Gene:: TICAM2 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGGCCCCTCTGTTGTATTGGCCCCTCTGTTGTATTG=0./0 (ALFA)
TTGGCCCCTCTGTTGTA=0.000004/1 (TOPMED)
TTGGCCCCTCTGTTGTA=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.115581094_115581110dup, NC_000005.9:g.114916791_114916807dup, NM_021649.7:c.150_166dup, NM_021649.6:c.150_166dup, NM_001164469.4:c.*208_*224dup, NM_001164469.3:c.*208_*224dup, NM_001164469.2:c.*208_*224dup, NM_001164468.4:c.657_673dup, NM_001164468.3:c.657_673dup, NM_001164468.2:c.657_673dup, NP_067681.1:p.Thr56fs, NP_001157940.1:p.Thr225fs

Select item 147937950510.

rs1479379505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:115620468 (GRCh38)
5:114956165 (GRCh37)
Canonical SPDI:: NC_000005.10:115620467:A:G
Gene:: TMED7 (Varview), TMED7-TICAM2 (Varview), TICAM2-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.115620468A>G, NC_000005.9:g.114956165A>G, NM_181836.6:c.405T>C, NM_181836.5:c.405T>C, NM_001164469.4:c.405T>C, NM_001164469.3:c.405T>C, NM_001164469.2:c.405T>C, NM_001164468.4:c.405T>C, NM_001164468.3:c.405T>C, NM_001164468.2:c.405T>C

Select item 147227384311.

rs1472273843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:115581028 (GRCh38)
5:114916725 (GRCh37)
Canonical SPDI:: NC_000005.10:115581027:C:A
Gene:: TICAM2 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.115581028C>A, NC_000005.9:g.114916725C>A, NM_021649.7:c.229G>T, NM_021649.6:c.229G>T, NM_001164469.4:c.*287G>T, NM_001164469.3:c.*287G>T, NM_001164469.2:c.*287G>T, NM_001164468.4:c.736G>T, NM_001164468.3:c.736G>T, NM_001164468.2:c.736G>T, NP_067681.1:p.Val77Leu, NP_001157940.1:p.Val246Leu

Select item 147130144312.

rs1471301443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:115580607 (GRCh38)
5:114916304 (GRCh37)
Canonical SPDI:: NC_000005.10:115580606:G:C
Gene:: TICAM2 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.115580607G>C, NC_000005.9:g.114916304G>C, NM_021649.7:c.650C>G, NM_021649.6:c.650C>G, NM_001164469.4:c.*708C>G, NM_001164469.3:c.*708C>G, NM_001164469.2:c.*708C>G, NM_001164468.4:c.1157C>G, NM_001164468.3:c.1157C>G, NM_001164468.2:c.1157C>G, NP_067681.1:p.Thr217Arg, NP_001157940.1:p.Thr386Arg

Select item 147113736013.

rs1471137360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:115580638 (GRCh38)
5:114916335 (GRCh37)
Canonical SPDI:: NC_000005.10:115580637:C:G
Gene:: TICAM2 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.115580638C>G, NC_000005.9:g.114916335C>G, NM_021649.7:c.619G>C, NM_021649.6:c.619G>C, NM_001164469.4:c.*677G>C, NM_001164469.3:c.*677G>C, NM_001164469.2:c.*677G>C, NM_001164468.4:c.1126G>C, NM_001164468.3:c.1126G>C, NM_001164468.2:c.1126G>C, NP_067681.1:p.Glu207Gln, NP_001157940.1:p.Glu376Gln

Select item 147078966714.

rs1470789667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:115580673 (GRCh38)
5:114916370 (GRCh37)
Canonical SPDI:: NC_000005.10:115580672:A:G
Gene:: TICAM2 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_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_000005.10:g.115580673A>G, NC_000005.9:g.114916370A>G, NM_021649.7:c.584T>C, NM_021649.6:c.584T>C, NM_001164469.4:c.*642T>C, NM_001164469.3:c.*642T>C, NM_001164469.2:c.*642T>C, NM_001164468.4:c.1091T>C, NM_001164468.3:c.1091T>C, NM_001164468.2:c.1091T>C, NP_067681.1:p.Leu195Ser, NP_001157940.1:p.Leu364Ser

Select item 146874179115.

rs1468741791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:115580634 (GRCh38)
5:114916331 (GRCh37)
Canonical SPDI:: NC_000005.10:115580633:C:A
Gene:: TICAM2 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.115580634C>A, NC_000005.9:g.114916331C>A, NM_021649.7:c.623G>T, NM_021649.6:c.623G>T, NM_001164469.4:c.*681G>T, NM_001164469.3:c.*681G>T, NM_001164469.2:c.*681G>T, NM_001164468.4:c.1130G>T, NM_001164468.3:c.1130G>T, NM_001164468.2:c.1130G>T, NP_067681.1:p.Arg208Ile, NP_001157940.1:p.Arg377Ile

Select item 146430349916.

rs1464303499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:115625700 (GRCh38)
5:114961397 (GRCh37)
Canonical SPDI:: NC_000005.10:115625699:G:A
Gene:: TMED7 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.115625700G>A, NC_000005.9:g.114961397G>A, NM_181836.6:c.93C>T, NM_181836.5:c.93C>T, NM_001164469.4:c.93C>T, NM_001164469.3:c.93C>T, NM_001164469.2:c.93C>T, NM_001164468.4:c.93C>T, NM_001164468.3:c.93C>T, NM_001164468.2:c.93C>T

Select item 145625918817.

rs1456259188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:115581050 (GRCh38)
5:114916747 (GRCh37)
Canonical SPDI:: NC_000005.10:115581049:A:C,NC_000005.10:115581049:A:G
Gene:: TICAM2 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.115581050A>C, NC_000005.10:g.115581050A>G, NC_000005.9:g.114916747A>C, NC_000005.9:g.114916747A>G, NM_021649.7:c.207T>G, NM_021649.7:c.207T>C, NM_021649.6:c.207T>G, NM_021649.6:c.207T>C, NM_001164469.4:c.*265T>G, NM_001164469.4:c.*265T>C, NM_001164469.3:c.*265T>G, NM_001164469.3:c.*265T>C, NM_001164469.2:c.*265T>G, NM_001164469.2:c.*265T>C, NM_001164468.4:c.714T>G, NM_001164468.4:c.714T>C, NM_001164468.3:c.714T>G, NM_001164468.3:c.714T>C, NM_001164468.2:c.714T>G, NM_001164468.2:c.714T>C, NP_067681.1:p.Phe69Leu, NP_001157940.1:p.Phe238Leu

Select item 145522285718.

rs1455222857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:115580646 (GRCh38)
5:114916343 (GRCh37)
Canonical SPDI:: NC_000005.10:115580645:G:A
Gene:: TICAM2 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000005.10:g.115580646G>A, NC_000005.9:g.114916343G>A, NM_021649.7:c.611C>T, NM_021649.6:c.611C>T, NM_001164469.4:c.*669C>T, NM_001164469.3:c.*669C>T, NM_001164469.2:c.*669C>T, NM_001164468.4:c.1118C>T, NM_001164468.3:c.1118C>T, NM_001164468.2:c.1118C>T, NP_067681.1:p.Thr204Ile, NP_001157940.1:p.Thr373Ile

Select item 145458231819.

rs1454582318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:115580575 (GRCh38)
5:114916272 (GRCh37)
Canonical SPDI:: NC_000005.10:115580574:T:A,NC_000005.10:115580574:T:C
Gene:: TICAM2 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.115580575T>A, NC_000005.10:g.115580575T>C, NC_000005.9:g.114916272T>A, NC_000005.9:g.114916272T>C, NM_021649.7:c.682A>T, NM_021649.7:c.682A>G, NM_021649.6:c.682A>T, NM_021649.6:c.682A>G, NM_001164469.4:c.*740A>T, NM_001164469.4:c.*740A>G, NM_001164469.3:c.*740A>T, NM_001164469.3:c.*740A>G, NM_001164469.2:c.*740A>T, NM_001164469.2:c.*740A>G, NM_001164468.4:c.1189A>T, NM_001164468.4:c.1189A>G, NM_001164468.3:c.1189A>T, NM_001164468.3:c.1189A>G, NM_001164468.2:c.1189A>T, NM_001164468.2:c.1189A>G, NP_067681.1:p.Met228Leu, NP_067681.1:p.Met228Val, NP_001157940.1:p.Met397Leu, NP_001157940.1:p.Met397Val

Select item 145213748620.

rs1452137486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:115625753 (GRCh38)
5:114961450 (GRCh37)
Canonical SPDI:: NC_000005.10:115625752:C:G
Gene:: TMED7 (Varview), TMED7-TICAM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.115625753C>G, NC_000005.9:g.114961450C>G, NM_181836.6:c.40G>C, NM_181836.5:c.40G>C, NM_001164469.4:c.40G>C, NM_001164469.3:c.40G>C, NM_001164469.2:c.40G>C, NM_001164468.4:c.40G>C, NM_001164468.3:c.40G>C, NM_001164468.2:c.40G>C, NP_861974.1:p.Ala14Pro, NP_001157941.1:p.Ala14Pro, NP_001157940.1:p.Ala14Pro

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