SNP Links for Protein (Select 970414533) - SNP

Links from Protein

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Select item 14876047081.

rs1487604708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:29748495 (GRCh38)
22:30144484 (GRCh37)
Canonical SPDI:: NC_000022.11:29748494:T:C,NC_000022.11:29748494:T:G
Gene:: ZMAT5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.003821/7 (Korea1K)
HGVS:: NC_000022.11:g.29748495T>C, NC_000022.11:g.29748495T>G, NC_000022.10:g.30144484T>C, NC_000022.10:g.30144484T>G, NM_019103.3:c.50A>G, NM_019103.3:c.50A>C, NM_019103.2:c.50A>G, NM_019103.2:c.50A>C, NM_001003692.2:c.50A>G, NM_001003692.2:c.50A>C, NM_001003692.1:c.50A>G, NM_001003692.1:c.50A>C, NM_001318129.2:c.50A>G, NM_001318129.2:c.50A>C, NM_001318129.1:c.50A>G, NM_001318129.1:c.50A>C, NP_061976.1:p.Asn17Ser, NP_061976.1:p.Asn17Thr, NP_001003692.1:p.Asn17Ser, NP_001003692.1:p.Asn17Thr, NP_001305058.1:p.Asn17Ser, NP_001305058.1:p.Asn17Thr

Select item 14810434592.

rs1481043459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:29731315 (GRCh38)
22:30127304 (GRCh37)
Canonical SPDI:: NC_000022.11:29731314:C:T
Gene:: ZMAT5 (Varview), CABP7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.29731315C>T, NC_000022.10:g.30127304C>T, NM_182527.3:c.*1746C>T, NM_182527.2:c.*1746C>T, NM_019103.3:c.423G>A, NM_019103.2:c.423G>A, NM_001003692.2:c.423G>A, NM_001003692.1:c.423G>A, NM_001318129.2:c.423G>A, NM_001318129.1:c.423G>A

Select item 14801340043.

rs1480134004 has merged into rs1331691544 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 22:29731258 (GRCh38)
22:30127247 (GRCh37)
Canonical SPDI:: NC_000022.11:29731257:CCCCCC:CCCCC,NC_000022.11:29731257:CCCCCC:CCCCCCC
Gene:: ZMAT5 (Varview), CABP7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.00384/48 (GoESP)
HGVS:: NC_000022.11:g.29731263del, NC_000022.11:g.29731263dup, NC_000022.10:g.30127252del, NC_000022.10:g.30127252dup, NM_182527.3:c.*1694del, NM_182527.3:c.*1694dup, NM_182527.2:c.*1694del, NM_182527.2:c.*1694dup, NM_019103.3:c.480del, NM_019103.3:c.480dup, NM_019103.2:c.480del, NM_019103.2:c.480dup, NM_001003692.2:c.480del, NM_001003692.2:c.480dup, NM_001003692.1:c.480del, NM_001003692.1:c.480dup, NM_001318129.2:c.480del, NM_001318129.2:c.480dup, NM_001318129.1:c.480del, NM_001318129.1:c.480dup, NP_061976.1:p.Trp161fs, NP_061976.1:p.Trp161fs, NP_001003692.1:p.Trp161fs, NP_001003692.1:p.Trp161fs, NP_001305058.1:p.Trp161fs, NP_001305058.1:p.Trp161fs

Select item 14729170234.

rs1472917023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:29738398 (GRCh38)
22:30134387 (GRCh37)
Canonical SPDI:: NC_000022.11:29738397:G:A
Gene:: ZMAT5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29738398G>A, NC_000022.10:g.30134387G>A, NM_019103.3:c.315C>T, NM_019103.2:c.315C>T, NM_001003692.2:c.315C>T, NM_001003692.1:c.315C>T, NM_001318129.2:c.315C>T, NM_001318129.1:c.315C>T

Select item 14524619705.

rs1452461970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:29742446 (GRCh38)
22:30138435 (GRCh37)
Canonical SPDI:: NC_000022.11:29742445:C:T
Gene:: ZMAT5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.29742446C>T, NC_000022.10:g.30138435C>T, NM_019103.3:c.162G>A, NM_019103.2:c.162G>A, NM_001003692.2:c.162G>A, NM_001003692.1:c.162G>A, NM_001318129.2:c.162G>A, NM_001318129.1:c.162G>A

Select item 14501878846.

rs1450187884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:29740705 (GRCh38)
22:30136694 (GRCh37)
Canonical SPDI:: NC_000022.11:29740704:G:A
Gene:: ZMAT5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.29740705G>A, NC_000022.10:g.30136694G>A, NM_019103.3:c.216C>T, NM_019103.2:c.216C>T, NM_001003692.2:c.216C>T, NM_001003692.1:c.216C>T, NM_001318129.2:c.216C>T, NM_001318129.1:c.216C>T

Select item 14441739057.

rs1444173905 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:29742477 (GRCh38)
22:30138467 (GRCh37)
Canonical SPDI:: NC_000022.11:29742477:C:CC
Gene:: ZMAT5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000049/13 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000022.11:g.29742478dup, NC_000022.10:g.30138467dup, NM_019103.3:c.130dup, NM_019103.2:c.130dup, NM_001003692.2:c.130dup, NM_001003692.1:c.130dup, NM_001318129.2:c.130dup, NM_001318129.1:c.130dup, NP_061976.1:p.Ala44fs, NP_001003692.1:p.Ala44fs, NP_001305058.1:p.Ala44fs

Select item 14306461468.

rs1430646146 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:29740654 (GRCh38)
22:30136643 (GRCh37)
Canonical SPDI:: NC_000022.11:29740653:C:T
Gene:: ZMAT5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.29740654C>T, NC_000022.10:g.30136643C>T, NM_019103.3:c.267G>A, NM_019103.2:c.267G>A, NM_001003692.2:c.267G>A, NM_001003692.1:c.267G>A, NM_001318129.2:c.267G>A, NM_001318129.1:c.267G>A

Select item 14293961619.

rs1429396161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:29740722 (GRCh38)
22:30136711 (GRCh37)
Canonical SPDI:: NC_000022.11:29740721:C:T
Gene:: ZMAT5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.29740722C>T, NC_000022.10:g.30136711C>T, NM_019103.3:c.199G>A, NM_019103.2:c.199G>A, NM_001003692.2:c.199G>A, NM_001003692.1:c.199G>A, NM_001318129.2:c.199G>A, NM_001318129.1:c.199G>A, NP_061976.1:p.Asp67Asn, NP_001003692.1:p.Asp67Asn, NP_001305058.1:p.Asp67Asn

Select item 142712385110.

rs1427123851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:29731242 (GRCh38)
22:30127231 (GRCh37)
Canonical SPDI:: NC_000022.11:29731241:T:C
Gene:: ZMAT5 (Varview), CABP7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_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_000022.11:g.29731242T>C, NC_000022.10:g.30127231T>C, NM_182527.3:c.*1673T>C, NM_182527.2:c.*1673T>C, NM_019103.3:c.496A>G, NM_019103.2:c.496A>G, NM_001003692.2:c.496A>G, NM_001003692.1:c.496A>G, NM_001318129.2:c.496A>G, NM_001318129.1:c.496A>G, NP_061976.1:p.Arg166Gly, NP_001003692.1:p.Arg166Gly, NP_001305058.1:p.Arg166Gly

Select item 142215250611.

rs1422152506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:29738434 (GRCh38)
22:30134423 (GRCh37)
Canonical SPDI:: NC_000022.11:29738433:C:T
Gene:: ZMAT5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.29738434C>T, NC_000022.10:g.30134423C>T, NM_019103.3:c.279G>A, NM_019103.2:c.279G>A, NM_001003692.2:c.279G>A, NM_001003692.1:c.279G>A, NM_001318129.2:c.279G>A, NM_001318129.1:c.279G>A

Select item 141321852112.

rs1413218521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:29742442 (GRCh38)
22:30138431 (GRCh37)
Canonical SPDI:: NC_000022.11:29742441:G:A
Gene:: ZMAT5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.29742442G>A, NC_000022.10:g.30138431G>A, NM_019103.3:c.166C>T, NM_019103.2:c.166C>T, NM_001003692.2:c.166C>T, NM_001003692.1:c.166C>T, NM_001318129.2:c.166C>T, NM_001318129.1:c.166C>T, NP_061976.1:p.Pro56Ser, NP_001003692.1:p.Pro56Ser, NP_001305058.1:p.Pro56Ser

Select item 140586734313.

rs1405867343 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:29748538 (GRCh38)
22:30144528 (GRCh37)
Canonical SPDI:: NC_000022.11:29748538:CCCC:CCCCC
Gene:: ZMAT5 (Varview)
Functional Consequence:: frameshift_variant,initiator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.29748542dup, NC_000022.10:g.30144531dup, NM_019103.3:c.6dup, NM_019103.2:c.6dup, NM_001003692.2:c.6dup, NM_001003692.1:c.6dup, NM_001318129.2:c.6dup, NM_001318129.1:c.6dup, NP_061976.1:p.Lys3fs, NP_001003692.1:p.Lys3fs, NP_001305058.1:p.Lys3fs

Select item 140563987314.

rs1405639873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:29738350 (GRCh38)
22:30134339 (GRCh37)
Canonical SPDI:: NC_000022.11:29738349:C:G
Gene:: ZMAT5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.29738350C>G, NC_000022.10:g.30134339C>G, NM_019103.3:c.363G>C, NM_019103.2:c.363G>C, NM_001003692.2:c.363G>C, NM_001003692.1:c.363G>C, NM_001318129.2:c.363G>C, NM_001318129.1:c.363G>C

Select item 139803721215.

rs1398037212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:29738436 (GRCh38)
22:30134425 (GRCh37)
Canonical SPDI:: NC_000022.11:29738435:T:A,NC_000022.11:29738435:T:C
Gene:: ZMAT5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000022.11:g.29738436T>A, NC_000022.11:g.29738436T>C, NC_000022.10:g.30134425T>A, NC_000022.10:g.30134425T>C, NM_019103.3:c.277A>T, NM_019103.3:c.277A>G, NM_019103.2:c.277A>T, NM_019103.2:c.277A>G, NM_001003692.2:c.277A>T, NM_001003692.2:c.277A>G, NM_001003692.1:c.277A>T, NM_001003692.1:c.277A>G, NM_001318129.2:c.277A>T, NM_001318129.2:c.277A>G, NM_001318129.1:c.277A>T, NM_001318129.1:c.277A>G, NP_061976.1:p.Arg93Trp, NP_061976.1:p.Arg93Gly, NP_001003692.1:p.Arg93Trp, NP_001003692.1:p.Arg93Gly, NP_001305058.1:p.Arg93Trp, NP_001305058.1:p.Arg93Gly

Select item 139397792816.

rs1393977928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:29742472 (GRCh38)
22:30138461 (GRCh37)
Canonical SPDI:: NC_000022.11:29742471:C:T
Gene:: ZMAT5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.29742472C>T, NC_000022.10:g.30138461C>T, NM_019103.3:c.136G>A, NM_019103.2:c.136G>A, NM_001003692.2:c.136G>A, NM_001003692.1:c.136G>A, NM_001318129.2:c.136G>A, NM_001318129.1:c.136G>A, NP_061976.1:p.Ala46Thr, NP_001003692.1:p.Ala46Thr, NP_001305058.1:p.Ala46Thr

Select item 139394837917.

rs1393948379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:29738333 (GRCh38)
22:30134322 (GRCh37)
Canonical SPDI:: NC_000022.11:29738332:C:T
Gene:: ZMAT5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.29738333C>T, NC_000022.10:g.30134322C>T, NM_019103.3:c.380G>A, NM_019103.2:c.380G>A, NM_001003692.2:c.380G>A, NM_001003692.1:c.380G>A, NM_001318129.2:c.380G>A, NM_001318129.1:c.380G>A, NP_061976.1:p.Ser127Asn, NP_001003692.1:p.Ser127Asn, NP_001305058.1:p.Ser127Asn

Select item 139297970218.

rs1392979702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:29742418 (GRCh38)
22:30138407 (GRCh37)
Canonical SPDI:: NC_000022.11:29742417:C:T
Gene:: ZMAT5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.29742418C>T, NC_000022.10:g.30138407C>T, NM_019103.3:c.190G>A, NM_019103.2:c.190G>A, NM_001003692.2:c.190G>A, NM_001003692.1:c.190G>A, NM_001318129.2:c.190G>A, NM_001318129.1:c.190G>A, NP_061976.1:p.Gly64Ser, NP_001003692.1:p.Gly64Ser, NP_001305058.1:p.Gly64Ser

Select item 138920396219.

rs1389203962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:29738347 (GRCh38)
22:30134336 (GRCh37)
Canonical SPDI:: NC_000022.11:29738346:G:A
Gene:: ZMAT5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29738347G>A, NC_000022.10:g.30134336G>A, NM_019103.3:c.366C>T, NM_019103.2:c.366C>T, NM_001003692.2:c.366C>T, NM_001003692.1:c.366C>T, NM_001318129.2:c.366C>T, NM_001318129.1:c.366C>T

Select item 136903804420.

rs1369038044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:29740667 (GRCh38)
22:30136656 (GRCh37)
Canonical SPDI:: NC_000022.11:29740666:A:G
Gene:: ZMAT5 (Varview)
Functional Consequence:: missense_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_000022.11:g.29740667A>G, NC_000022.10:g.30136656A>G, NM_019103.3:c.254T>C, NM_019103.2:c.254T>C, NM_001003692.2:c.254T>C, NM_001003692.1:c.254T>C, NM_001318129.2:c.254T>C, NM_001318129.1:c.254T>C, NP_061976.1:p.Leu85Pro, NP_001003692.1:p.Leu85Pro, NP_001305058.1:p.Leu85Pro

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