SNP Links for Protein (Select 8922952) - SNP

Links from Protein

Items: 1 to 20 of 278

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Select item 14881109981.

rs1488110998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:6716294 (GRCh38)
4:6718021 (GRCh37)
Canonical SPDI:: NC_000004.12:6716293:G:T
Gene:: BLOC1S4 (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)
T=0.000956/16 (TOMMO)
HGVS:: NC_000004.12:g.6716294G>T, NC_000004.11:g.6718021G>T, NM_018366.3:c.85G>T, NM_018366.2:c.85G>T, NP_060836.1:p.Asp29Tyr

Select item 14867122402.

rs1486712240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6716835 (GRCh38)
4:6718562 (GRCh37)
Canonical SPDI:: NC_000004.12:6716834:C:T
Gene:: BLOC1S4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.6716835C>T, NC_000004.11:g.6718562C>T, NM_018366.3:c.626C>T, NM_018366.2:c.626C>T, NP_060836.1:p.Pro209Leu

Select item 14864109943.

rs1486410994 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 4:6716643 (GRCh38)
4:6718370 (GRCh37)
Canonical SPDI:: NC_000004.12:6716642:T:
Gene:: BLOC1S4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.6716643del, NC_000004.11:g.6718370del, NM_018366.3:c.434del, NM_018366.2:c.434del, NP_060836.1:p.Val145fs

Select item 14856766784.

rs1485676678 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:6716412 (GRCh38)
4:6718139 (GRCh37)
Canonical SPDI:: NC_000004.12:6716411:A:C,NC_000004.12:6716411:A:G
Gene:: BLOC1S4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.6716412A>C, NC_000004.12:g.6716412A>G, NC_000004.11:g.6718139A>C, NC_000004.11:g.6718139A>G, NM_018366.3:c.203A>C, NM_018366.3:c.203A>G, NM_018366.2:c.203A>C, NM_018366.2:c.203A>G, NP_060836.1:p.Tyr68Ser, NP_060836.1:p.Tyr68Cys

Select item 14836783825.

rs1483678382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6716783 (GRCh38)
4:6718510 (GRCh37)
Canonical SPDI:: NC_000004.12:6716782:C:T
Gene:: BLOC1S4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.6716783C>T, NC_000004.11:g.6718510C>T, NM_018366.3:c.574C>T, NM_018366.2:c.574C>T, NP_060836.1:p.Gln192Ter

Select item 14800362806.

rs1480036280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:6716768 (GRCh38)
4:6718495 (GRCh37)
Canonical SPDI:: NC_000004.12:6716767:G:C
Gene:: BLOC1S4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.6716768G>C, NC_000004.11:g.6718495G>C, NM_018366.3:c.559G>C, NM_018366.2:c.559G>C, NP_060836.1:p.Ala187Pro

Select item 14792671507.

rs1479267150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6716460 (GRCh38)
4:6718187 (GRCh37)
Canonical SPDI:: NC_000004.12:6716459:C:T
Gene:: BLOC1S4 (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)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.6716460C>T, NC_000004.11:g.6718187C>T, NM_018366.3:c.251C>T, NM_018366.2:c.251C>T, NP_060836.1:p.Ala84Val

Select item 14769970458.

rs1476997045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:6716846 (GRCh38)
4:6718573 (GRCh37)
Canonical SPDI:: NC_000004.12:6716845:G:A
Gene:: BLOC1S4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.6716846G>A, NC_000004.11:g.6718573G>A, NM_018366.3:c.637G>A, NM_018366.2:c.637G>A, NP_060836.1:p.Glu213Lys

Select item 14760104069.

rs1476010406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:6716585 (GRCh38)
4:6718312 (GRCh37)
Canonical SPDI:: NC_000004.12:6716584:G:A,NC_000004.12:6716584:G:T
Gene:: BLOC1S4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.6716585G>A, NC_000004.12:g.6716585G>T, NC_000004.11:g.6718312G>A, NC_000004.11:g.6718312G>T, NM_018366.3:c.376G>A, NM_018366.3:c.376G>T, NM_018366.2:c.376G>A, NM_018366.2:c.376G>T, NP_060836.1:p.Ala126Thr, NP_060836.1:p.Ala126Ser

Select item 147551712110.

rs1475517121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6716528 (GRCh38)
4:6718255 (GRCh37)
Canonical SPDI:: NC_000004.12:6716527:C:T
Gene:: BLOC1S4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.6716528C>T, NC_000004.11:g.6718255C>T, NM_018366.3:c.319C>T, NM_018366.2:c.319C>T, NP_060836.1:p.Arg107Cys

Select item 146599265211.

rs1465992652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:6716276 (GRCh38)
4:6718003 (GRCh37)
Canonical SPDI:: NC_000004.12:6716275:G:T
Gene:: BLOC1S4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.6716276G>T, NC_000004.11:g.6718003G>T, NM_018366.3:c.67G>T, NM_018366.2:c.67G>T, NP_060836.1:p.Gly23Cys

Select item 146579657512.

rs1465796575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:6716317 (GRCh38)
4:6718044 (GRCh37)
Canonical SPDI:: NC_000004.12:6716316:C:G
Gene:: BLOC1S4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.6716317C>G, NC_000004.11:g.6718044C>G, NM_018366.3:c.108C>G, NM_018366.2:c.108C>G, NP_060836.1:p.Ser36Arg

Select item 146373521413.

rs1463735214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:6716710 (GRCh38)
4:6718437 (GRCh37)
Canonical SPDI:: NC_000004.12:6716709:C:A,NC_000004.12:6716709:C:G
Gene:: BLOC1S4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.6716710C>A, NC_000004.12:g.6716710C>G, NC_000004.11:g.6718437C>A, NC_000004.11:g.6718437C>G, NM_018366.3:c.501C>A, NM_018366.3:c.501C>G, NM_018366.2:c.501C>A, NM_018366.2:c.501C>G

Select item 146311909814.

rs1463119098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:6716399 (GRCh38)
4:6718126 (GRCh37)
Canonical SPDI:: NC_000004.12:6716398:G:C
Gene:: BLOC1S4 (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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.6716399G>C, NC_000004.11:g.6718126G>C, NM_018366.3:c.190G>C, NM_018366.2:c.190G>C, NP_060836.1:p.Ala64Pro

Select item 146304019415.

rs1463040194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6716467 (GRCh38)
4:6718194 (GRCh37)
Canonical SPDI:: NC_000004.12:6716466:C:T
Gene:: BLOC1S4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.6716467C>T, NC_000004.11:g.6718194C>T, NM_018366.3:c.258C>T, NM_018366.2:c.258C>T

Select item 146255404016.

rs1462554040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:6716534 (GRCh38)
4:6718261 (GRCh37)
Canonical SPDI:: NC_000004.12:6716533:G:C
Gene:: BLOC1S4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.6716534G>C, NC_000004.11:g.6718261G>C, NM_018366.3:c.325G>C, NM_018366.2:c.325G>C, NP_060836.1:p.Asp109His

Select item 145977381917.

rs1459773819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6716597 (GRCh38)
4:6718324 (GRCh37)
Canonical SPDI:: NC_000004.12:6716596:C:T
Gene:: BLOC1S4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.6716597C>T, NC_000004.11:g.6718324C>T, NM_018366.3:c.388C>T, NM_018366.2:c.388C>T, NP_060836.1:p.Arg130Cys

Select item 145801399318.

rs1458013993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6716326 (GRCh38)
4:6718053 (GRCh37)
Canonical SPDI:: NC_000004.12:6716325:C:T
Gene:: BLOC1S4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.6716326C>T, NC_000004.11:g.6718053C>T, NM_018366.3:c.117C>T, NM_018366.2:c.117C>T

Select item 145733111719.

rs1457331117 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGGCC>- [Show Flanks]
Chromosome:: 4:6716681 (GRCh38)
4:6718408 (GRCh37)
Canonical SPDI:: NC_000004.12:6716678:CCAAGGCC:CC
Gene:: BLOC1S4 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.6716681_6716686del, NC_000004.11:g.6718408_6718413del, NM_018366.3:c.472_477del, NM_018366.2:c.472_477del, NP_060836.1:p.Lys158_Ala159del

Select item 145452988020.

rs1454529880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:6716704 (GRCh38)
4:6718431 (GRCh37)
Canonical SPDI:: NC_000004.12:6716703:C:T
Gene:: BLOC1S4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.6716704C>T, NC_000004.11:g.6718431C>T, NM_018366.3:c.495C>T, NM_018366.2:c.495C>T

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