SNP Links for Protein (Select 325301072) - SNP

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:153794584 (GRCh38)
X:153060039 (GRCh37)
Canonical SPDI:: NC_000023.11:153794583:C:A
Gene:: IDH3G (Varview), SSR4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153794584C>A, NC_000023.10:g.153060039C>A, NG_041795.1:g.5410C>A, NR_037927.1:n.136C>A, NM_001204526.1:c.18C>A, NW_003871103.3:g.1228567C>A, NM_006280.2:c.-104C>A, NP_001191455.1:p.Phe6Leu

Select item 137655528012.

rs1376555280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153794707 (GRCh38)
X:153060162 (GRCh37)
Canonical SPDI:: NC_000023.11:153794706:T:C
Gene:: IDH3G (Varview), SSR4 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.153794707T>C, NC_000023.10:g.153060162T>C, NG_041795.1:g.5533T>C, NM_006280.3:c.20T>C, NM_006280.2:c.20T>C, NM_001204527.2:c.44T>C, NM_001204527.1:c.44T>C, NR_037927.1:n.171T>C, NM_001204526.1:c.53T>C, NW_003871103.3:g.1228690T>C, XM_047442389.1:c.101T>C, XM_047442390.1:c.20T>C, NP_006271.1:p.Leu7Pro, NP_001191456.1:p.Leu15Pro, NP_001191455.1:p.Leu18Pro, XP_047298345.1:p.Leu34Pro, XP_047298346.1:p.Leu7Pro

Select item 135265370013.

rs1352653700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153796500 (GRCh38)
X:153061955 (GRCh37)
Canonical SPDI:: NC_000023.11:153796499:C:T
Gene:: SSR4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153796500C>T, NC_000023.10:g.153061955C>T, NG_041795.1:g.7326C>T, NM_006280.3:c.134C>T, NM_006280.2:c.134C>T, NM_001204527.2:c.158C>T, NM_001204527.1:c.158C>T, NR_037927.1:n.479C>T, NM_001204526.1:c.167C>T, NW_003871103.3:g.1230483C>T, XM_047442389.1:c.215C>T, XM_047442390.1:c.134C>T, NP_006271.1:p.Thr45Ile, NP_001191456.1:p.Thr53Ile, NP_001191455.1:p.Thr56Ile, XP_047298345.1:p.Thr72Ile, XP_047298346.1:p.Thr45Ile

Select item 130751787814.

rs1307517878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153797498 (GRCh38)
X:153062953 (GRCh37)
Canonical SPDI:: NC_000023.11:153797497:C:T
Gene:: SSR4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.153797498C>T, NC_000023.10:g.153062953C>T, NG_041795.1:g.8324C>T, NM_006280.3:c.227C>T, NM_006280.2:c.227C>T, NM_001204527.2:c.251C>T, NM_001204527.1:c.251C>T, NR_037927.1:n.572C>T, NM_001204526.1:c.260C>T, NW_003871103.3:g.1231481C>T, XM_047442389.1:c.308C>T, XM_047442390.1:c.227C>T, NP_006271.1:p.Pro76Leu, NP_001191456.1:p.Pro84Leu, NP_001191455.1:p.Pro87Leu, XP_047298345.1:p.Pro103Leu, XP_047298346.1:p.Pro76Leu

Select item 129903497115.

rs1299034971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153794686 (GRCh38)
X:153060141 (GRCh37)
Canonical SPDI:: NC_000023.11:153794685:C:T
Gene:: IDH3G (Varview), SSR4 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.153794686C>T, NC_000023.10:g.153060141C>T, NG_041795.1:g.5512C>T, NM_006280.3:c.-2C>T, NM_006280.2:c.-2C>T, NM_001204527.2:c.23C>T, NM_001204527.1:c.23C>T, NR_037927.1:n.150C>T, NM_001204526.1:c.32C>T, NW_003871103.3:g.1228669C>T, XM_047442389.1:c.80C>T, XM_047442390.1:c.-2C>T, NP_001191456.1:p.Ala8Val, NP_001191455.1:p.Ala11Val, XP_047298345.1:p.Ala27Val

Select item 129097402516.

rs1290974025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:153797744 (GRCh38)
X:153063199 (GRCh37)
Canonical SPDI:: NC_000023.11:153797743:A:C
Gene:: SSR4 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153797744A>C, NC_000023.10:g.153063199A>C, NG_041795.1:g.8570A>C, NM_006280.3:c.281A>C, NM_006280.2:c.281A>C, NM_001204527.2:c.305A>C, NM_001204527.1:c.305A>C, NR_037927.1:n.626A>C, NM_001204526.1:c.314A>C, NW_003871103.3:g.1231727A>C, XM_047442389.1:c.362A>C, XM_047442390.1:c.281A>C, NP_006271.1:p.His94Pro, NP_001191456.1:p.His102Pro, NP_001191455.1:p.His105Pro, XP_047298345.1:p.His121Pro, XP_047298346.1:p.His94Pro

Select item 128795295317.

rs1287952953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153796488 (GRCh38)
X:153061943 (GRCh37)
Canonical SPDI:: NC_000023.11:153796487:C:T
Gene:: SSR4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153796488C>T, NC_000023.10:g.153061943C>T, NG_041795.1:g.7314C>T, NM_006280.3:c.122C>T, NM_006280.2:c.122C>T, NM_001204527.2:c.146C>T, NM_001204527.1:c.146C>T, NR_037927.1:n.467C>T, NM_001204526.1:c.155C>T, NW_003871103.3:g.1230471C>T, XM_047442389.1:c.203C>T, XM_047442390.1:c.122C>T, NP_006271.1:p.Ala41Val, NP_001191456.1:p.Ala49Val, NP_001191455.1:p.Ala52Val, XP_047298345.1:p.Ala68Val, XP_047298346.1:p.Ala41Val

Select item 126935943818.

rs1269359438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153798422 (GRCh38)
X:153063877 (GRCh37)
Canonical SPDI:: NC_000023.11:153798421:A:G
Gene:: SSR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.153798422A>G, NC_000023.10:g.153063877A>G, NG_041795.1:g.9248A>G, NM_006280.3:c.511A>G, NM_006280.2:c.511A>G, NM_001204527.2:c.535A>G, NM_001204527.1:c.535A>G, NR_037927.1:n.856A>G, NM_001204526.1:c.544A>G, NW_003871103.3:g.1232405A>G, XM_047442389.1:c.592A>G, XM_047442390.1:c.511A>G, NP_006271.1:p.Ile171Val, NP_001191456.1:p.Ile179Val, NP_001191455.1:p.Ile182Val, XP_047298345.1:p.Ile198Val, XP_047298346.1:p.Ile171Val

Select item 126511683119.

rs1265116831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153797806 (GRCh38)
X:153063261 (GRCh37)
Canonical SPDI:: NC_000023.11:153797805:C:T
Gene:: SSR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.153797806C>T, NC_000023.10:g.153063261C>T, NG_041795.1:g.8632C>T, NM_006280.3:c.343C>T, NM_006280.2:c.343C>T, NM_001204527.2:c.367C>T, NM_001204527.1:c.367C>T, NR_037927.1:n.688C>T, NM_001204526.1:c.376C>T, NW_003871103.3:g.1231789C>T, XM_047442389.1:c.424C>T, XM_047442390.1:c.343C>T, NP_006271.1:p.Leu115Phe, NP_001191456.1:p.Leu123Phe, NP_001191455.1:p.Leu126Phe, XP_047298345.1:p.Leu142Phe, XP_047298346.1:p.Leu115Phe

Select item 125644136520.

rs1256441365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:153794733 (GRCh38)
X:153060188 (GRCh37)
Canonical SPDI:: NC_000023.11:153794732:T:C,NC_000023.11:153794732:T:G
Gene:: IDH3G (Varview), SSR4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.153794733T>C, NC_000023.11:g.153794733T>G, NC_000023.10:g.153060188T>C, NC_000023.10:g.153060188T>G, NG_041795.1:g.5559T>C, NG_041795.1:g.5559T>G, NM_006280.3:c.46T>C, NM_006280.3:c.46T>G, NM_006280.2:c.46T>C, NM_006280.2:c.46T>G, NM_001204527.2:c.70T>C, NM_001204527.2:c.70T>G, NM_001204527.1:c.70T>C, NM_001204527.1:c.70T>G, NR_037927.1:n.197T>C, NR_037927.1:n.197T>G, NM_001204526.1:c.79T>C, NM_001204526.1:c.79T>G, NW_003871103.3:g.1228716T>C, NW_003871103.3:g.1228716T>G, XM_047442389.1:c.127T>C, XM_047442389.1:c.127T>G, XM_047442390.1:c.46T>C, XM_047442390.1:c.46T>G, NP_006271.1:p.Ser16Pro, NP_006271.1:p.Ser16Ala, NP_001191456.1:p.Ser24Pro, NP_001191456.1:p.Ser24Ala, NP_001191455.1:p.Ser27Pro, NP_001191455.1:p.Ser27Ala, XP_047298345.1:p.Ser43Pro, XP_047298345.1:p.Ser43Ala, XP_047298346.1:p.Ser16Pro, XP_047298346.1:p.Ser16Ala

dbSNP

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