SNP Links for Protein (Select 42794771) - SNP

Links from Protein

Items: 1 to 20 of 528

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Select item 14903345731.

rs1490334573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:7886011 (GRCh38)
6:7886244 (GRCh37)
Canonical SPDI:: NC_000006.12:7886010:G:A,NC_000006.12:7886010:G:T
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.7886011G>A, NC_000006.12:g.7886011G>T, NC_000006.11:g.7886244G>A, NC_000006.11:g.7886244G>T, NM_030810.5:c.996C>T, NM_030810.5:c.996C>A, NM_030810.4:c.996C>T, NM_030810.4:c.996C>A, NM_030810.3:c.996C>T, NM_030810.3:c.996C>A, NM_001145549.4:c.672C>T, NM_001145549.4:c.672C>A, NM_001145549.3:c.672C>T, NM_001145549.3:c.672C>A, NM_001145549.2:c.672C>T, NM_001145549.2:c.672C>A, NM_022085.3:c.867C>T, NM_022085.3:c.867C>A, NM_022085.2:c.780C>T, NM_022085.2:c.780C>A, NR_037616.1:n.1155C>T, NR_037616.1:n.1155C>A, NP_110437.2:p.Phe332Leu, NP_001139021.1:p.Phe224Leu

Select item 14898401582.

rs1489840158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:7884377 (GRCh38)
6:7884610 (GRCh37)
Canonical SPDI:: NC_000006.12:7884376:A:G
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7884377A>G, NC_000006.11:g.7884610A>G, NM_030810.5:c.1158T>C, NM_030810.4:c.1158T>C, NM_030810.3:c.1158T>C, NM_001145549.4:c.834T>C, NM_001145549.3:c.834T>C, NM_001145549.2:c.834T>C, NM_022085.3:c.1029T>C, NM_022085.2:c.942T>C, NR_037616.1:n.1317T>C

Select item 14892026323.

rs1489202632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:7910716 (GRCh38)
6:7910949 (GRCh37)
Canonical SPDI:: NC_000006.12:7910715:G:A,NC_000006.12:7910715:G:C
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000283/5 (TOMMO)
A=0.002012/4 (KOREAN)
HGVS:: NC_000006.12:g.7910716G>A, NC_000006.12:g.7910716G>C, NC_000006.11:g.7910949G>A, NC_000006.11:g.7910949G>C, NM_030810.5:c.61C>T, NM_030810.5:c.61C>G, NM_030810.4:c.61C>T, NM_030810.4:c.61C>G, NM_030810.3:c.61C>T, NM_030810.3:c.61C>G, NP_110437.2:p.Leu21Val

Select item 14875877724.

rs1487587772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:7910755 (GRCh38)
6:7910988 (GRCh37)
Canonical SPDI:: NC_000006.12:7910754:G:A,NC_000006.12:7910754:G:C
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000658/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7910755G>A, NC_000006.12:g.7910755G>C, NC_000006.11:g.7910988G>A, NC_000006.11:g.7910988G>C, NM_030810.5:c.22C>T, NM_030810.5:c.22C>G, NM_030810.4:c.22C>T, NM_030810.4:c.22C>G, NM_030810.3:c.22C>T, NM_030810.3:c.22C>G, NP_110437.2:p.Leu8Phe, NP_110437.2:p.Leu8Val

Select item 14869922235.

rs1486992223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7910652 (GRCh38)
6:7910885 (GRCh37)
Canonical SPDI:: NC_000006.12:7910651:G:A
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.7910652G>A, NC_000006.11:g.7910885G>A, NM_030810.5:c.125C>T, NM_030810.4:c.125C>T, NM_030810.3:c.125C>T, NP_110437.2:p.Ala42Val

Select item 14859038846.

rs1485903884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7910585 (GRCh38)
6:7910818 (GRCh37)
Canonical SPDI:: NC_000006.12:7910584:G:A
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.7910585G>A, NC_000006.11:g.7910818G>A, NM_030810.5:c.192C>T, NM_030810.4:c.192C>T, NM_030810.3:c.192C>T

Select item 14833166257.

rs1483316625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:7888771 (GRCh38)
6:7889004 (GRCh37)
Canonical SPDI:: NC_000006.12:7888770:A:C,NC_000006.12:7888770:A:T
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7888771A>C, NC_000006.12:g.7888771A>T, NC_000006.11:g.7889004A>C, NC_000006.11:g.7889004A>T, NM_030810.5:c.897T>G, NM_030810.5:c.897T>A, NM_030810.4:c.897T>G, NM_030810.4:c.897T>A, NM_030810.3:c.897T>G, NM_030810.3:c.897T>A, NM_001145549.4:c.573T>G, NM_001145549.4:c.573T>A, NM_001145549.3:c.573T>G, NM_001145549.3:c.573T>A, NM_001145549.2:c.573T>G, NM_001145549.2:c.573T>A, NM_022085.3:c.768T>G, NM_022085.3:c.768T>A, NM_022085.2:c.681T>G, NM_022085.2:c.681T>A, NR_037616.1:n.1056T>G, NR_037616.1:n.1056T>A

Select item 14831521448.

rs1483152144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:7888841 (GRCh38)
6:7889074 (GRCh37)
Canonical SPDI:: NC_000006.12:7888840:T:C
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_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_000006.12:g.7888841T>C, NC_000006.11:g.7889074T>C, NM_030810.5:c.827A>G, NM_030810.4:c.827A>G, NM_030810.3:c.827A>G, NM_001145549.4:c.503A>G, NM_001145549.3:c.503A>G, NM_001145549.2:c.503A>G, NM_022085.3:c.698A>G, NM_022085.2:c.611A>G, NR_037616.1:n.986A>G, NP_110437.2:p.Gln276Arg, NP_001139021.1:p.Gln168Arg

Select item 14826640139.

rs1482664013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7895171 (GRCh38)
6:7895404 (GRCh37)
Canonical SPDI:: NC_000006.12:7895170:G:A
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7895171G>A, NC_000006.11:g.7895404G>A, NM_030810.5:c.551C>T, NM_030810.4:c.551C>T, NM_030810.3:c.551C>T, NM_001145549.4:c.227C>T, NM_001145549.3:c.227C>T, NM_001145549.2:c.227C>T, NM_022085.3:c.422C>T, NM_022085.2:c.335C>T, NR_037616.1:n.710C>T, NP_110437.2:p.Ala184Val, NP_001139021.1:p.Ala76Val

Select item 148187880610.

rs1481878806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:7910705 (GRCh38)
6:7910938 (GRCh37)
Canonical SPDI:: NC_000006.12:7910704:C:T
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000006.12:g.7910705C>T, NC_000006.11:g.7910938C>T, NM_030810.5:c.72G>A, NM_030810.4:c.72G>A, NM_030810.3:c.72G>A

Select item 148152264411.

rs1481522644 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCTTGCTGTGCGGGTCCTGTCCGT [Show Flanks]
Chromosome:: 6:7910584 (GRCh38)
6:7910818 (GRCh37)
Canonical SPDI:: NC_000006.12:7910584:GTGCTTGCTGTGCGGGTCCTGTCCGT:GTGCTTGCTGTGCGGGTCCTGTCCGTGCTTGCTGTGCGGGTCCTGTCCGT
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,inframe_insertion,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGCTTGCTGTGCGGGTCCTGTCCGTGCTTGCTGTGCGGGTCCTGTCCGT=0./0 (ALFA)
GTGCTTGCTGTGCGGGTCCTGTCC=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.7910587_7910610dup, NC_000006.11:g.7910820_7910843dup, NM_030810.5:c.169_192dup, NM_030810.4:c.169_192dup, NM_030810.3:c.169_192dup, NP_110437.2:p.Gly57_His64dup

Select item 148137095012.

rs1481370950 [Homo sapiens]

Variant type:: DEL
Alleles:: GTTGCTTG>- [Show Flanks]
Chromosome:: 6:7895128 (GRCh38)
6:7895361 (GRCh37)
Canonical SPDI:: NC_000006.12:7895127:GTTGCTTG:
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00008/1 (GoESP)
HGVS:: NC_000006.12:g.7895128_7895135del, NC_000006.11:g.7895361_7895368del, NM_030810.5:c.587_594del, NM_030810.4:c.587_594del, NM_030810.3:c.587_594del, NM_001145549.4:c.263_270del, NM_001145549.3:c.263_270del, NM_001145549.2:c.263_270del, NM_022085.3:c.458_465del, NM_022085.2:c.371_378del, NR_037616.1:n.746_753del, NP_110437.2:p.Ala196fs, NP_001139021.1:p.Ala88fs

Select item 147606384913.

rs1476063849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:7910545 (GRCh38)
6:7910778 (GRCh37)
Canonical SPDI:: NC_000006.12:7910544:C:T
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.7910545C>T, NC_000006.11:g.7910778C>T, NM_030810.5:c.232G>A, NM_030810.4:c.232G>A, NM_030810.3:c.232G>A, NP_110437.2:p.Ala78Thr

Select item 147567605314.

rs1475676053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:7910549 (GRCh38)
6:7910782 (GRCh37)
Canonical SPDI:: NC_000006.12:7910548:C:G
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7910549C>G, NC_000006.11:g.7910782C>G, NM_030810.5:c.228G>C, NM_030810.4:c.228G>C, NM_030810.3:c.228G>C, NP_110437.2:p.Gln76His

Select item 147303015015.

rs1473030150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:7895133 (GRCh38)
6:7895366 (GRCh37)
Canonical SPDI:: NC_000006.12:7895132:T:C
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.7895133T>C, NC_000006.11:g.7895366T>C, NM_030810.5:c.589A>G, NM_030810.4:c.589A>G, NM_030810.3:c.589A>G, NM_001145549.4:c.265A>G, NM_001145549.3:c.265A>G, NM_001145549.2:c.265A>G, NM_022085.3:c.460A>G, NM_022085.2:c.373A>G, NR_037616.1:n.748A>G, NP_110437.2:p.Ser197Gly, NP_001139021.1:p.Ser89Gly

Select item 147296480216.

rs1472964802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:7883194 (GRCh38)
6:7883427 (GRCh37)
Canonical SPDI:: NC_000006.12:7883193:G:C
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.7883194G>C, NC_000006.11:g.7883427G>C, NM_030810.5:c.1249C>G, NM_030810.4:c.1249C>G, NM_030810.3:c.1249C>G, NM_001145549.4:c.925C>G, NM_001145549.3:c.925C>G, NM_001145549.2:c.925C>G, NM_022085.3:c.1120C>G, NM_022085.2:c.1033C>G, NR_037616.1:n.1408C>G, NP_110437.2:p.Leu417Val, NP_001139021.1:p.Leu309Val

Select item 146703730417.

rs1467037304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7888738 (GRCh38)
6:7888971 (GRCh37)
Canonical SPDI:: NC_000006.12:7888737:G:A
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7888738G>A, NC_000006.11:g.7888971G>A, NM_030810.5:c.930C>T, NM_030810.4:c.930C>T, NM_030810.3:c.930C>T, NM_001145549.4:c.606C>T, NM_001145549.3:c.606C>T, NM_001145549.2:c.606C>T, NM_022085.3:c.801C>T, NM_022085.2:c.714C>T, NR_037616.1:n.1089C>T

Select item 146621402418.

rs1466214024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7910577 (GRCh38)
6:7910810 (GRCh37)
Canonical SPDI:: NC_000006.12:7910576:G:A
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.7910577G>A, NC_000006.11:g.7910810G>A, NM_030810.5:c.200C>T, NM_030810.4:c.200C>T, NM_030810.3:c.200C>T, NP_110437.2:p.Thr67Met

Select item 146568970319.

rs1465689703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:7886035 (GRCh38)
6:7886268 (GRCh37)
Canonical SPDI:: NC_000006.12:7886034:C:G
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.7886035C>G, NC_000006.11:g.7886268C>G, NM_030810.5:c.972G>C, NM_030810.4:c.972G>C, NM_030810.3:c.972G>C, NM_001145549.4:c.648G>C, NM_001145549.3:c.648G>C, NM_001145549.2:c.648G>C, NM_022085.3:c.843G>C, NM_022085.2:c.756G>C, NR_037616.1:n.1131G>C

Select item 146365467820.

rs1463654678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:7910555 (GRCh38)
6:7910788 (GRCh37)
Canonical SPDI:: NC_000006.12:7910554:C:T
Gene:: TXNDC5 (Varview), BLOC1S5-TXNDC5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.7910555C>T, NC_000006.11:g.7910788C>T, NM_030810.5:c.222G>A, NM_030810.4:c.222G>A, NM_030810.3:c.222G>A

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