SNP Links for Protein (Select 1066523131) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 61

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Select item 14768138311.

rs1476813831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:145094926 (GRCh38)
1:143914217 (GRCh37)
Canonical SPDI:: NC_000001.11:145094925:A:G
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: missense_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000038/5 (GnomAD)
HGVS:: NC_000001.11:g.145094926A>G, NW_003871055.3:g.1910339A>G, NC_000001.10:g.143914217T>C, XM_011509962.4:c.49A>G, XM_011509962.3:c.49A>G, XM_011509962.2:c.49A>G, XM_011509962.1:c.49A>G, NM_001345942.2:c.49A>G, NM_001345942.1:c.49A>G, XM_047429806.1:c.-1922A>G, XP_011508264.1:p.Arg17Gly, NP_001332871.1:p.Arg17Gly

Select item 14757799692.

rs1475779969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:145099043 (GRCh38)
1:143910100 (GRCh37)
Canonical SPDI:: NC_000001.11:145099042:A:T
Gene:: FAM72D (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.145099043A>T, NW_003871055.3:g.1914456A>T, NC_000001.10:g.143910100T>A, XM_011509963.4:c.208A>T, XM_011509963.3:c.208A>T, XM_011509963.2:c.208A>T, XM_011509963.1:c.208A>T, XM_011509962.4:c.208A>T, XM_011509962.3:c.208A>T, XM_011509962.2:c.208A>T, XM_011509962.1:c.208A>T, NM_207418.3:c.208A>T, NM_207418.2:c.208A>T, XM_024449521.2:c.208A>T, XM_024449521.1:c.208A>T, XM_024449520.2:c.121A>T, XM_024449520.1:c.121A>T, NR_144320.2:n.382A>T, NR_144320.1:n.382A>T, NM_001345942.2:c.208A>T, NM_001345942.1:c.208A>T, XM_047429806.1:c.208A>T, XM_047429809.1:c.208A>T, XM_047429821.1:c.121A>T, XP_011508265.1:p.Lys70Ter, XP_011508264.1:p.Lys70Ter, NP_997301.2:p.Lys70Ter, XP_024305289.1:p.Lys70Ter, XP_024305288.1:p.Lys41Ter, NP_001332871.1:p.Lys70Ter, XP_047285762.1:p.Lys70Ter, XP_047285765.1:p.Lys70Ter, XP_047285777.1:p.Lys41Ter

Select item 14732439833.

rs1473243983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:145094891 (GRCh38)
1:143914252 (GRCh37)
Canonical SPDI:: NC_000001.11:145094890:C:G,NC_000001.11:145094890:C:T
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.145094891C>G, NC_000001.11:g.145094891C>T, NW_003871055.3:g.1910304C>G, NW_003871055.3:g.1910304C>T, NC_000001.10:g.143914252G>C, NC_000001.10:g.143914252G>A, XM_011509962.4:c.14C>G, XM_011509962.4:c.14C>T, XM_011509962.3:c.14C>G, XM_011509962.3:c.14C>T, XM_011509962.2:c.14C>G, XM_011509962.2:c.14C>T, XM_011509962.1:c.14C>G, XM_011509962.1:c.14C>T, NM_001345942.2:c.14C>G, NM_001345942.2:c.14C>T, NM_001345942.1:c.14C>G, NM_001345942.1:c.14C>T, XM_047429806.1:c.-1957C>G, XM_047429806.1:c.-1957C>T, XP_011508264.1:p.Thr5Ser, XP_011508264.1:p.Thr5Ile, NP_001332871.1:p.Thr5Ser, NP_001332871.1:p.Thr5Ile

Select item 14602490204.

rs1460249020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145103016 (GRCh38)
1:143906127 (GRCh37)
Canonical SPDI:: NC_000001.11:145103015:T:C
Gene:: FAM72D (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.00003/7 (GnomAD_exomes)
C=0.000073/10 (GnomAD)
C=0.000079/21 (TOPMED)
HGVS:: NC_000001.11:g.145103016T>C, NW_003871055.3:g.1918429T>C, NC_000001.10:g.143906127A>G, XM_011509963.4:c.240T>C, XM_011509963.3:c.240T>C, XM_011509963.2:c.240T>C, XM_011509963.1:c.240T>C, XM_011509962.4:c.240T>C, XM_011509962.3:c.240T>C, XM_011509962.2:c.240T>C, XM_011509962.1:c.240T>C, NM_207418.3:c.240T>C, NM_207418.2:c.240T>C, XM_024449520.2:c.153T>C, XM_024449520.1:c.153T>C, NR_144320.2:n.414T>C, NR_144320.1:n.414T>C, NM_001345942.2:c.240T>C, NM_001345942.1:c.240T>C, XM_047429806.1:c.240T>C, XM_047429809.1:c.240T>C, XM_047429821.1:c.153T>C

Select item 14582107525.

rs1458210752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:145094971 (GRCh38)
1:143914172 (GRCh37)
Canonical SPDI:: NC_000001.11:145094970:A:G
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_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_000001.11:g.145094971A>G, NW_003871055.3:g.1910384A>G, NC_000001.10:g.143914172T>C, XM_011509962.4:c.94A>G, XM_011509962.3:c.94A>G, XM_011509962.2:c.94A>G, XM_011509962.1:c.94A>G, NM_001345942.2:c.94A>G, NM_001345942.1:c.94A>G, XM_047429806.1:c.-1877A>G, XP_011508264.1:p.Ser32Gly, NP_001332871.1:p.Ser32Gly

Select item 14541117896.

rs1454111789 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:145103109 (GRCh38)
1:143906034 (GRCh37)
Canonical SPDI:: NC_000001.11:145103108:T:A
Gene:: FAM72D (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.145103109T>A, NW_003871055.3:g.1918522T>A, NC_000001.10:g.143906034A>T, XM_011509963.4:c.333T>A, XM_011509963.3:c.333T>A, XM_011509963.2:c.333T>A, XM_011509963.1:c.333T>A, XM_011509962.4:c.333T>A, XM_011509962.3:c.333T>A, XM_011509962.2:c.333T>A, XM_011509962.1:c.333T>A, NM_207418.3:c.333T>A, NM_207418.2:c.333T>A, XM_024449520.2:c.246T>A, XM_024449520.1:c.246T>A, NR_144320.2:n.507T>A, NR_144320.1:n.507T>A, NM_001345942.2:c.333T>A, NM_001345942.1:c.333T>A, XM_047429806.1:c.333T>A, XM_047429809.1:c.333T>A, XM_047429821.1:c.246T>A, XP_011508265.1:p.Asp111Glu, XP_011508264.1:p.Asp111Glu, NP_997301.2:p.Asp111Glu, XP_024305288.1:p.Asp82Glu, NP_001332871.1:p.Asp111Glu, XP_047285762.1:p.Asp111Glu, XP_047285765.1:p.Asp111Glu, XP_047285777.1:p.Asp82Glu

Select item 14487419257.

rs1448741925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:145099009 (GRCh38)
1:143910134 (GRCh37)
Canonical SPDI:: NC_000001.11:145099008:A:G
Gene:: FAM72D (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.145099009A>G, NW_003871055.3:g.1914422A>G, NC_000001.10:g.143910134T>C, XM_011509963.4:c.174A>G, XM_011509963.3:c.174A>G, XM_011509963.2:c.174A>G, XM_011509963.1:c.174A>G, XM_011509962.4:c.174A>G, XM_011509962.3:c.174A>G, XM_011509962.2:c.174A>G, XM_011509962.1:c.174A>G, NM_207418.3:c.174A>G, NM_207418.2:c.174A>G, XM_024449521.2:c.174A>G, XM_024449521.1:c.174A>G, XM_024449520.2:c.87A>G, XM_024449520.1:c.87A>G, NR_144320.2:n.348A>G, NR_144320.1:n.348A>G, NM_001345942.2:c.174A>G, NM_001345942.1:c.174A>G, XM_047429806.1:c.174A>G, XM_047429809.1:c.174A>G, XM_047429821.1:c.87A>G

Select item 14462176578.

rs1446217657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145094936 (GRCh38)
1:143914207 (GRCh37)
Canonical SPDI:: NC_000001.11:145094935:G:A
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.145094936G>A, NW_003871055.3:g.1910349G>A, NC_000001.10:g.143914207C>T, XM_011509962.4:c.59G>A, XM_011509962.3:c.59G>A, XM_011509962.2:c.59G>A, XM_011509962.1:c.59G>A, NM_001345942.2:c.59G>A, NM_001345942.1:c.59G>A, XM_047429806.1:c.-1912G>A, XP_011508264.1:p.Arg20Lys, NP_001332871.1:p.Arg20Lys

Select item 14325290409.

rs1432529040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:145099001 (GRCh38)
1:143910142 (GRCh37)
Canonical SPDI:: NC_000001.11:145099000:A:C
Gene:: FAM72D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.00035/1 (KOREAN)
G=0.00072/12 (TOMMO)
HGVS:: NC_000001.11:g.145099001A>C, NW_003871055.3:g.1914414A>C, NC_000001.10:g.143910142T>G, XM_011509963.4:c.166A>C, XM_011509963.3:c.166A>C, XM_011509963.2:c.166A>C, XM_011509963.1:c.166A>C, XM_011509962.4:c.166A>C, XM_011509962.3:c.166A>C, XM_011509962.2:c.166A>C, XM_011509962.1:c.166A>C, NM_207418.3:c.166A>C, NM_207418.2:c.166A>C, XM_024449521.2:c.166A>C, XM_024449521.1:c.166A>C, XM_024449520.2:c.79A>C, XM_024449520.1:c.79A>C, NR_144320.2:n.340A>C, NR_144320.1:n.340A>C, NM_001345942.2:c.166A>C, NM_001345942.1:c.166A>C, XM_047429806.1:c.166A>C, XM_047429809.1:c.166A>C, XM_047429821.1:c.79A>C, XP_011508265.1:p.Thr56Pro, XP_011508264.1:p.Thr56Pro, NP_997301.2:p.Thr56Pro, XP_024305289.1:p.Thr56Pro, XP_024305288.1:p.Thr27Pro, NP_001332871.1:p.Thr56Pro, XP_047285762.1:p.Thr56Pro, XP_047285765.1:p.Thr56Pro, XP_047285777.1:p.Thr27Pro

Select item 142675206710.

rs1426752067 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 1:145095007 (GRCh38)
1:143914130 (GRCh37)
Canonical SPDI:: NC_000001.11:145095007:GAGAGA:GAGAGAGA
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,frameshift_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGA=0.000084/1 (ALFA)
GA=0.000007/1 (GnomAD)
GA=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.145095008GA[4], NW_003871055.3:g.1910421GA[4], NC_000001.10:g.143914130TC[4], XM_011509962.4:c.135_136dup, XM_011509962.3:c.135_136dup, XM_011509962.2:c.135_136dup, XM_011509962.1:c.135_136dup, NM_001345942.2:c.135_136dup, NM_001345942.1:c.135_136dup, XM_047429806.1:c.-1840GA[4], XP_011508264.1:p.Thr46fs, NP_001332871.1:p.Thr46fs

Select item 141731207511.

rs1417312075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145099011 (GRCh38)
1:143910132 (GRCh37)
Canonical SPDI:: NC_000001.11:145099010:G:A
Gene:: FAM72D (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.145099011G>A, NW_003871055.3:g.1914424G>A, NC_000001.10:g.143910132C>T, XM_011509963.4:c.176G>A, XM_011509963.3:c.176G>A, XM_011509963.2:c.176G>A, XM_011509963.1:c.176G>A, XM_011509962.4:c.176G>A, XM_011509962.3:c.176G>A, XM_011509962.2:c.176G>A, XM_011509962.1:c.176G>A, NM_207418.3:c.176G>A, NM_207418.2:c.176G>A, XM_024449521.2:c.176G>A, XM_024449521.1:c.176G>A, XM_024449520.2:c.89G>A, XM_024449520.1:c.89G>A, NR_144320.2:n.350G>A, NR_144320.1:n.350G>A, NM_001345942.2:c.176G>A, NM_001345942.1:c.176G>A, XM_047429806.1:c.176G>A, XM_047429809.1:c.176G>A, XM_047429821.1:c.89G>A, XP_011508265.1:p.Cys59Tyr, XP_011508264.1:p.Cys59Tyr, NP_997301.2:p.Cys59Tyr, XP_024305289.1:p.Cys59Tyr, XP_024305288.1:p.Cys30Tyr, NP_001332871.1:p.Cys59Tyr, XP_047285762.1:p.Cys59Tyr, XP_047285765.1:p.Cys59Tyr, XP_047285777.1:p.Cys30Tyr

Select item 141227245812.

rs1412272458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145094985 (GRCh38)
1:143914158 (GRCh37)
Canonical SPDI:: NC_000001.11:145094984:C:T
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.00025/34 (GnomAD)
T=0.000276/73 (TOPMED)
A=0.000358/6 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.145094985C>T, NW_003871055.3:g.1910398C>T, NC_000001.10:g.143914158G>A, XM_011509962.4:c.108C>T, XM_011509962.3:c.108C>T, XM_011509962.2:c.108C>T, XM_011509962.1:c.108C>T, NM_001345942.2:c.108C>T, NM_001345942.1:c.108C>T, XM_047429806.1:c.-1863C>T

Select item 141205075413.

rs1412050754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:145094900 (GRCh38)
1:143914243 (GRCh37)
Canonical SPDI:: NC_000001.11:145094899:G:A,NC_000001.11:145094899:G:C
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000016/2 (GnomAD)
HGVS:: NC_000001.11:g.145094900G>A, NC_000001.11:g.145094900G>C, NW_003871055.3:g.1910313G>A, NW_003871055.3:g.1910313G>C, NC_000001.10:g.143914243C>T, NC_000001.10:g.143914243C>G, XM_011509962.4:c.23G>A, XM_011509962.4:c.23G>C, XM_011509962.3:c.23G>A, XM_011509962.3:c.23G>C, XM_011509962.2:c.23G>A, XM_011509962.2:c.23G>C, XM_011509962.1:c.23G>A, XM_011509962.1:c.23G>C, NM_001345942.2:c.23G>A, NM_001345942.2:c.23G>C, NM_001345942.1:c.23G>A, NM_001345942.1:c.23G>C, XM_047429806.1:c.-1948G>A, XM_047429806.1:c.-1948G>C, XP_011508264.1:p.Arg8Gln, XP_011508264.1:p.Arg8Pro, NP_001332871.1:p.Arg8Gln, NP_001332871.1:p.Arg8Pro

Select item 140604540114.

rs1406045401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145094972 (GRCh38)
1:143914171 (GRCh37)
Canonical SPDI:: NC_000001.11:145094971:G:A
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.145094972G>A, NW_003871055.3:g.1910385G>A, NC_000001.10:g.143914171C>T, XM_011509962.4:c.95G>A, XM_011509962.3:c.95G>A, XM_011509962.2:c.95G>A, XM_011509962.1:c.95G>A, NM_001345942.2:c.95G>A, NM_001345942.1:c.95G>A, XM_047429806.1:c.-1876G>A, XP_011508264.1:p.Ser32Asn, NP_001332871.1:p.Ser32Asn

Select item 138293175615.

rs1382931756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145103120 (GRCh38)
1:143906023 (GRCh37)
Canonical SPDI:: NC_000001.11:145103119:T:C
Gene:: FAM72D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.145103120T>C, NW_003871055.3:g.1918533T>C, NC_000001.10:g.143906023A>G, XM_011509963.4:c.344T>C, XM_011509963.3:c.344T>C, XM_011509963.2:c.344T>C, XM_011509963.1:c.344T>C, XM_011509962.4:c.344T>C, XM_011509962.3:c.344T>C, XM_011509962.2:c.344T>C, XM_011509962.1:c.344T>C, NM_207418.3:c.344T>C, NM_207418.2:c.344T>C, XM_024449520.2:c.257T>C, XM_024449520.1:c.257T>C, NR_144320.2:n.518T>C, NR_144320.1:n.518T>C, NM_001345942.2:c.344T>C, NM_001345942.1:c.344T>C, XM_047429806.1:c.344T>C, XM_047429809.1:c.344T>C, XM_047429821.1:c.257T>C, XP_011508265.1:p.Leu115Pro, XP_011508264.1:p.Leu115Pro, NP_997301.2:p.Leu115Pro, XP_024305288.1:p.Leu86Pro, NP_001332871.1:p.Leu115Pro, XP_047285762.1:p.Leu115Pro, XP_047285765.1:p.Leu115Pro, XP_047285777.1:p.Leu86Pro

Select item 137701461116.

rs1377014611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:145099002 (GRCh38)
1:143910141 (GRCh37)
Canonical SPDI:: NC_000001.11:145099001:C:A
Gene:: FAM72D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00076/9 (ALFA)
T=0.00036/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.145099002C>A, NW_003871055.3:g.1914415C>A, NC_000001.10:g.143910141G>T, XM_011509963.4:c.167C>A, XM_011509963.3:c.167C>A, XM_011509963.2:c.167C>A, XM_011509963.1:c.167C>A, XM_011509962.4:c.167C>A, XM_011509962.3:c.167C>A, XM_011509962.2:c.167C>A, XM_011509962.1:c.167C>A, NM_207418.3:c.167C>A, NM_207418.2:c.167C>A, XM_024449521.2:c.167C>A, XM_024449521.1:c.167C>A, XM_024449520.2:c.80C>A, XM_024449520.1:c.80C>A, NR_144320.2:n.341C>A, NR_144320.1:n.341C>A, NM_001345942.2:c.167C>A, NM_001345942.1:c.167C>A, XM_047429806.1:c.167C>A, XM_047429809.1:c.167C>A, XM_047429821.1:c.80C>A, XP_011508265.1:p.Thr56Asn, XP_011508264.1:p.Thr56Asn, NP_997301.2:p.Thr56Asn, XP_024305289.1:p.Thr56Asn, XP_024305288.1:p.Thr27Asn, NP_001332871.1:p.Thr56Asn, XP_047285762.1:p.Thr56Asn, XP_047285765.1:p.Thr56Asn, XP_047285777.1:p.Thr27Asn

Select item 136994375917.

rs1369943759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:145094962 (GRCh38)
1:143914181 (GRCh37)
Canonical SPDI:: NC_000001.11:145094961:C:G,NC_000001.11:145094961:C:T
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000156/1 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.145094962C>G, NC_000001.11:g.145094962C>T, NW_003871055.3:g.1910375C>G, NW_003871055.3:g.1910375C>T, NC_000001.10:g.143914181G>C, NC_000001.10:g.143914181G>A, XM_011509962.4:c.85C>G, XM_011509962.4:c.85C>T, XM_011509962.3:c.85C>G, XM_011509962.3:c.85C>T, XM_011509962.2:c.85C>G, XM_011509962.2:c.85C>T, XM_011509962.1:c.85C>G, XM_011509962.1:c.85C>T, NM_001345942.2:c.85C>G, NM_001345942.2:c.85C>T, NM_001345942.1:c.85C>G, NM_001345942.1:c.85C>T, XM_047429806.1:c.-1886C>G, XM_047429806.1:c.-1886C>T, XP_011508264.1:p.Arg29Gly, XP_011508264.1:p.Arg29Trp, NP_001332871.1:p.Arg29Gly, NP_001332871.1:p.Arg29Trp

Select item 134535060718.

rs1345350607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145098988 (GRCh38)
1:143910155 (GRCh37)
Canonical SPDI:: NC_000001.11:145098987:C:T
Gene:: FAM72D (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00042/5 (ALFA)
A=0.00056/6 (GnomAD_exomes)
A=0.0006/10 (TOMMO)
T=0.00083/1 (GnomAD)
A=0.00212/6 (KOREAN)
HGVS:: NC_000001.11:g.145098988C>T, NW_003871055.3:g.1914401C>T, NC_000001.10:g.143910155G>A, XM_011509963.4:c.153C>T, XM_011509963.3:c.153C>T, XM_011509963.2:c.153C>T, XM_011509963.1:c.153C>T, XM_011509962.4:c.153C>T, XM_011509962.3:c.153C>T, XM_011509962.2:c.153C>T, XM_011509962.1:c.153C>T, NM_207418.3:c.153C>T, NM_207418.2:c.153C>T, XM_024449521.2:c.153C>T, XM_024449521.1:c.153C>T, XM_024449520.2:c.66C>T, XM_024449520.1:c.66C>T, NR_144320.2:n.327C>T, NR_144320.1:n.327C>T, NM_001345942.2:c.153C>T, NM_001345942.1:c.153C>T, XM_047429806.1:c.153C>T, XM_047429809.1:c.153C>T, XM_047429821.1:c.66C>T

Select item 133024018519.

rs1330240185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:145103131 (GRCh38)
1:143906012 (GRCh37)
Canonical SPDI:: NC_000001.11:145103130:G:T
Gene:: FAM72D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.145103131G>T, NW_003871055.3:g.1918544G>T, NC_000001.10:g.143906012C>A, XM_011509963.4:c.355G>T, XM_011509963.3:c.355G>T, XM_011509963.2:c.355G>T, XM_011509963.1:c.355G>T, XM_011509962.4:c.355G>T, XM_011509962.3:c.355G>T, XM_011509962.2:c.355G>T, XM_011509962.1:c.355G>T, NM_207418.3:c.355G>T, NM_207418.2:c.355G>T, XM_024449520.2:c.268G>T, XM_024449520.1:c.268G>T, NR_144320.2:n.529G>T, NR_144320.1:n.529G>T, NM_001345942.2:c.355G>T, NM_001345942.1:c.355G>T, XM_047429806.1:c.355G>T, XM_047429809.1:c.355G>T, XM_047429821.1:c.268G>T, XP_011508265.1:p.Ala119Ser, XP_011508264.1:p.Gly119Cys, NP_997301.2:p.Gly119Cys, XP_024305288.1:p.Gly90Cys, NP_001332871.1:p.Gly119Cys, XP_047285762.1:p.Gly119Cys, XP_047285765.1:p.Gly119Cys, XP_047285777.1:p.Gly90Cys

Select item 132982730420.

rs1329827304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:145094949 (GRCh38)
1:143914194 (GRCh37)
Canonical SPDI:: NC_000001.11:145094948:G:A,NC_000001.11:145094948:G:C
Gene:: SRGAP2B (Varview), FAM72D (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.145094949G>A, NC_000001.11:g.145094949G>C, NW_003871055.3:g.1910362G>A, NW_003871055.3:g.1910362G>C, NC_000001.10:g.143914194C>T, NC_000001.10:g.143914194C>G, XM_011509962.4:c.72G>A, XM_011509962.4:c.72G>C, XM_011509962.3:c.72G>A, XM_011509962.3:c.72G>C, XM_011509962.2:c.72G>A, XM_011509962.2:c.72G>C, XM_011509962.1:c.72G>A, XM_011509962.1:c.72G>C, NM_001345942.2:c.72G>A, NM_001345942.2:c.72G>C, NM_001345942.1:c.72G>A, NM_001345942.1:c.72G>C, XM_047429806.1:c.-1899G>A, XM_047429806.1:c.-1899G>C

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