SNP Links for Protein (Select 1034616779) - SNP

Links from Protein

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Select item 14909305191.

rs1490930519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:196893245 (GRCh38)
2:197757969 (GRCh37)
Canonical SPDI:: NC_000002.12:196893244:T:A,NC_000002.12:196893244:T:C
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000002.12:g.196893245T>A, NC_000002.12:g.196893245T>C, NC_000002.11:g.197757969T>A, NC_000002.11:g.197757969T>C, NG_046780.1:g.38751A>T, NG_046780.1:g.38751A>G, NM_024989.4:c.928A>T, NM_024989.4:c.928A>G, NM_024989.3:c.928A>T, NM_024989.3:c.928A>G, NM_001321099.2:c.406A>T, NM_001321099.2:c.406A>G, NM_001321099.1:c.406A>T, NM_001321099.1:c.406A>G, NM_001321100.2:c.-184A>T, NM_001321100.2:c.-184A>G, NM_001321100.1:c.-184A>T, NM_001321100.1:c.-184A>G, XM_017004993.2:c.406A>T, XM_017004993.2:c.406A>G, XM_017004993.1:c.406A>T, XM_017004993.1:c.406A>G, XR_001738960.2:n.1019A>T, XR_001738960.2:n.1019A>G, XR_001738960.1:n.1307A>T, XR_001738960.1:n.1307A>G, XM_017004992.1:c.406A>T, XM_017004992.1:c.406A>G, XM_047445910.1:c.928A>T, XM_047445910.1:c.928A>G, XR_007082522.1:n.1019A>T, XR_007082522.1:n.1019A>G, NP_079265.2:p.Ile310Leu, NP_079265.2:p.Ile310Val, NP_001308028.1:p.Ile136Leu, NP_001308028.1:p.Ile136Val, XP_016860482.1:p.Ile136Leu, XP_016860482.1:p.Ile136Val, XP_016860481.1:p.Ile136Leu, XP_016860481.1:p.Ile136Val, XP_047301866.1:p.Ile310Leu, XP_047301866.1:p.Ile310Val

Select item 14881812172.

rs1488181217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:196847951 (GRCh38)
2:197712675 (GRCh37)
Canonical SPDI:: NC_000002.12:196847950:A:G,NC_000002.12:196847950:A:T
Gene:: PGAP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.196847951A>G, NC_000002.12:g.196847951A>T, NC_000002.11:g.197712675A>G, NC_000002.11:g.197712675A>T, NG_046780.1:g.84045T>C, NG_046780.1:g.84045T>A, NM_024989.4:c.1948T>C, NM_024989.4:c.1948T>A, NM_024989.3:c.1948T>C, NM_024989.3:c.1948T>A, NM_001321099.2:c.1426T>C, NM_001321099.2:c.1426T>A, NM_001321099.1:c.1426T>C, NM_001321099.1:c.1426T>A, NM_001321100.2:c.781T>C, NM_001321100.2:c.781T>A, NM_001321100.1:c.781T>C, NM_001321100.1:c.781T>A, XM_017004993.2:c.1426T>C, XM_017004993.2:c.1426T>A, XM_017004993.1:c.1426T>C, XM_017004993.1:c.1426T>A, XM_017004992.1:c.1426T>C, XM_017004992.1:c.1426T>A, XR_007082522.1:n.1945T>C, XR_007082522.1:n.1945T>A, NP_079265.2:p.Leu650Met, NP_001308028.1:p.Leu476Met, NP_001308029.1:p.Leu261Met, XP_016860482.1:p.Leu476Met, XP_016860481.1:p.Leu476Met

Select item 14881797993.

rs1488179799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:196873713 (GRCh38)
2:197738437 (GRCh37)
Canonical SPDI:: NC_000002.12:196873712:T:C
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_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_000002.12:g.196873713T>C, NC_000002.11:g.197738437T>C, NG_046780.1:g.58283A>G, NM_024989.4:c.1472A>G, NM_024989.3:c.1472A>G, NM_001321099.2:c.950A>G, NM_001321099.1:c.950A>G, NM_001321100.2:c.305A>G, NM_001321100.1:c.305A>G, XM_017004993.2:c.950A>G, XM_017004993.1:c.950A>G, XM_017004992.1:c.950A>G, XR_007082522.1:n.1563A>G, NP_079265.2:p.Tyr491Cys, NP_001308028.1:p.Tyr317Cys, NP_001308029.1:p.Tyr102Cys, XP_016860482.1:p.Tyr317Cys, XP_016860481.1:p.Tyr317Cys

Select item 14878607984.

rs1487860798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:196847977 (GRCh38)
2:197712701 (GRCh37)
Canonical SPDI:: NC_000002.12:196847976:G:C
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.196847977G>C, NC_000002.11:g.197712701G>C, NG_046780.1:g.84019C>G, NM_024989.4:c.1922C>G, NM_024989.3:c.1922C>G, NM_001321099.2:c.1400C>G, NM_001321099.1:c.1400C>G, NM_001321100.2:c.755C>G, NM_001321100.1:c.755C>G, XM_017004993.2:c.1400C>G, XM_017004993.1:c.1400C>G, XM_017004992.1:c.1400C>G, XR_007082522.1:n.1919C>G, NP_079265.2:p.Pro641Arg, NP_001308028.1:p.Pro467Arg, NP_001308029.1:p.Pro252Arg, XP_016860482.1:p.Pro467Arg, XP_016860481.1:p.Pro467Arg

Select item 14858989315.

rs1485898931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:196893235 (GRCh38)
2:197757959 (GRCh37)
Canonical SPDI:: NC_000002.12:196893234:T:A
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_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_000002.12:g.196893235T>A, NC_000002.11:g.197757959T>A, NG_046780.1:g.38761A>T, NM_024989.4:c.938A>T, NM_024989.3:c.938A>T, NM_001321099.2:c.416A>T, NM_001321099.1:c.416A>T, NM_001321100.2:c.-174A>T, NM_001321100.1:c.-174A>T, XM_017004993.2:c.416A>T, XM_017004993.1:c.416A>T, XR_001738960.2:n.1029A>T, XR_001738960.1:n.1317A>T, XM_017004992.1:c.416A>T, XM_047445910.1:c.938A>T, XR_007082522.1:n.1029A>T, NP_079265.2:p.Asn313Ile, NP_001308028.1:p.Asn139Ile, XP_016860482.1:p.Asn139Ile, XP_016860481.1:p.Asn139Ile, XP_047301866.1:p.Asn313Ile

Select item 14858241726.

rs1485824172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:196843895 (GRCh38)
2:197708619 (GRCh37)
Canonical SPDI:: NC_000002.12:196843894:T:G
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.196843895T>G, NC_000002.11:g.197708619T>G, NG_046780.1:g.88101A>C, NM_024989.4:c.2518A>C, NM_024989.3:c.2518A>C, NM_001321099.2:c.1996A>C, NM_001321099.1:c.1996A>C, NM_001321100.2:c.1351A>C, NM_001321100.1:c.1351A>C, XM_017004993.2:c.1996A>C, XM_017004993.1:c.1996A>C, XM_017004992.1:c.1996A>C, NP_079265.2:p.Asn840His, NP_001308028.1:p.Asn666His, NP_001308029.1:p.Asn451His, XP_016860482.1:p.Asn666His, XP_016860481.1:p.Asn666His

Select item 14847113317.

rs1484711331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:196890891 (GRCh38)
2:197755615 (GRCh37)
Canonical SPDI:: NC_000002.12:196890890:A:G
Gene:: PGAP1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.196890891A>G, NC_000002.11:g.197755615A>G, NG_046780.1:g.41105T>C, NM_024989.4:c.1110T>C, NM_024989.3:c.1110T>C, NM_001321099.2:c.588T>C, NM_001321099.1:c.588T>C, NM_001321100.2:c.-58T>C, NM_001321100.1:c.-58T>C, XM_017004993.2:c.588T>C, XM_017004993.1:c.588T>C, XR_001738960.2:n.1201T>C, XR_001738960.1:n.1489T>C, XM_017004992.1:c.588T>C, XM_047445910.1:c.1110T>C, XR_007082522.1:n.1201T>C

Select item 14838879188.

rs1483887918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:196844063 (GRCh38)
2:197708787 (GRCh37)
Canonical SPDI:: NC_000002.12:196844062:A:C
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.196844063A>C, NC_000002.11:g.197708787A>C, NG_046780.1:g.87933T>G, NM_024989.4:c.2350T>G, NM_024989.3:c.2350T>G, NM_001321099.2:c.1828T>G, NM_001321099.1:c.1828T>G, NM_001321100.2:c.1183T>G, NM_001321100.1:c.1183T>G, XM_017004993.2:c.1828T>G, XM_017004993.1:c.1828T>G, XM_017004992.1:c.1828T>G, NP_079265.2:p.Ser784Ala, NP_001308028.1:p.Ser610Ala, NP_001308029.1:p.Ser395Ala, XP_016860482.1:p.Ser610Ala, XP_016860481.1:p.Ser610Ala

Select item 14822412469.

rs1482241246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:196912948 (GRCh38)
2:197777672 (GRCh37)
Canonical SPDI:: NC_000002.12:196912947:T:G
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_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_000002.12:g.196912948T>G, NC_000002.11:g.197777672T>G, NG_046780.1:g.19048A>C, NM_024989.4:c.583A>C, NM_024989.3:c.583A>C, NM_001321099.2:c.61A>C, NM_001321099.1:c.61A>C, NM_001321100.2:c.-529A>C, NM_001321100.1:c.-529A>C, XM_017004993.2:c.61A>C, XM_017004993.1:c.61A>C, XR_001738960.2:n.674A>C, XR_001738960.1:n.962A>C, XM_017004992.1:c.61A>C, XM_047445910.1:c.583A>C, XR_007082522.1:n.674A>C, NP_079265.2:p.Asn195His, NP_001308028.1:p.Asn21His, XP_016860482.1:p.Asn21His, XP_016860481.1:p.Asn21His, XP_047301866.1:p.Asn195His

Select item 148180357710.

rs1481803577 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 2:196847166 (GRCh38)
2:197711891 (GRCh37)
Canonical SPDI:: NC_000002.12:196847166::AT
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.196847166_196847167insAT, NC_000002.11:g.197711890_197711891insAT, NG_046780.1:g.84829_84830insAT, NM_024989.4:c.1986_1987insAT, NM_024989.3:c.1986_1987insAT, NM_001321099.2:c.1464_1465insAT, NM_001321099.1:c.1464_1465insAT, NM_001321100.2:c.819_820insAT, NM_001321100.1:c.819_820insAT, XM_017004993.2:c.1464_1465insAT, XM_017004993.1:c.1464_1465insAT, XM_017004992.1:c.1464_1465insAT, XR_007082522.1:n.1983_1984insAT, NP_079265.2:p.Leu663fs, NP_001308028.1:p.Leu489fs, NP_001308029.1:p.Leu274fs, XP_016860482.1:p.Leu489fs, XP_016860481.1:p.Leu489fs

Select item 148156980811.

rs1481569808 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:196893152 (GRCh38)
2:197757876 (GRCh37)
Canonical SPDI:: NC_000002.12:196893151:A:G
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.196893152A>G, NC_000002.11:g.197757876A>G, NG_046780.1:g.38844T>C, NM_024989.4:c.1021T>C, NM_024989.3:c.1021T>C, NM_001321099.2:c.499T>C, NM_001321099.1:c.499T>C, NM_001321100.2:c.-91T>C, NM_001321100.1:c.-91T>C, XM_017004993.2:c.499T>C, XM_017004993.1:c.499T>C, XR_001738960.2:n.1112T>C, XR_001738960.1:n.1400T>C, XM_017004992.1:c.499T>C, XM_047445910.1:c.1021T>C, XR_007082522.1:n.1112T>C, NP_079265.2:p.Ser341Pro, NP_001308028.1:p.Ser167Pro, XP_016860482.1:p.Ser167Pro, XP_016860481.1:p.Ser167Pro, XP_047301866.1:p.Ser341Pro

Select item 148153717212.

rs1481537172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:196912960 (GRCh38)
2:197777684 (GRCh37)
Canonical SPDI:: NC_000002.12:196912959:G:C
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.196912960G>C, NC_000002.11:g.197777684G>C, NG_046780.1:g.19036C>G, NM_024989.4:c.571C>G, NM_024989.3:c.571C>G, NM_001321099.2:c.49C>G, NM_001321099.1:c.49C>G, NM_001321100.2:c.-541C>G, NM_001321100.1:c.-541C>G, XM_017004993.2:c.49C>G, XM_017004993.1:c.49C>G, XR_001738960.2:n.662C>G, XR_001738960.1:n.950C>G, XM_017004992.1:c.49C>G, XM_047445910.1:c.571C>G, XR_007082522.1:n.662C>G, NP_079265.2:p.His191Asp, NP_001308028.1:p.His17Asp, XP_016860482.1:p.His17Asp, XP_016860481.1:p.His17Asp, XP_047301866.1:p.His191Asp

Select item 147930656713.

rs1479306567 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:196890841 (GRCh38)
2:197755566 (GRCh37)
Canonical SPDI:: NC_000002.12:196890841:G:GG
Gene:: PGAP1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000002.12:g.196890842dup, NC_000002.11:g.197755566dup, NG_046780.1:g.41154dup, NM_024989.4:c.1159dup, NM_024989.3:c.1159dup, NM_001321099.2:c.637dup, NM_001321099.1:c.637dup, NM_001321100.2:c.-9dup, NM_001321100.1:c.-9dup, XM_017004993.2:c.637dup, XM_017004993.1:c.637dup, XR_001738960.2:n.1250dup, XR_001738960.1:n.1538dup, XM_017004992.1:c.637dup, XM_047445910.1:c.1159dup, XR_007082522.1:n.1250dup, NP_079265.2:p.Gln387fs, NP_001308028.1:p.Gln213fs, XP_016860482.1:p.Gln213fs, XP_016860481.1:p.Gln213fs, XP_047301866.1:p.Gln387fs

Select item 147921564814.

rs1479215648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:196875817 (GRCh38)
2:197740541 (GRCh37)
Canonical SPDI:: NC_000002.12:196875816:A:G
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.196875817A>G, NC_000002.11:g.197740541A>G, NG_046780.1:g.56179T>C, NM_024989.4:c.1355T>C, NM_024989.3:c.1355T>C, NM_001321099.2:c.833T>C, NM_001321099.1:c.833T>C, NM_001321100.2:c.188T>C, NM_001321100.1:c.188T>C, XM_017004993.2:c.833T>C, XM_017004993.1:c.833T>C, XR_001738960.2:n.1510T>C, XR_001738960.1:n.1798T>C, XM_017004992.1:c.833T>C, XM_047445910.1:c.*1811T>C, XR_007082522.1:n.1446T>C, NP_079265.2:p.Val452Ala, NP_001308028.1:p.Val278Ala, NP_001308029.1:p.Val63Ala, XP_016860482.1:p.Val278Ala, XP_016860481.1:p.Val278Ala

Select item 147770651915.

rs1477706519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:196846007 (GRCh38)
2:197710731 (GRCh37)
Canonical SPDI:: NC_000002.12:196846006:G:A
Gene:: PGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.196846007G>A, NC_000002.11:g.197710731G>A, NG_046780.1:g.85989C>T, NM_024989.4:c.2161C>T, NM_024989.3:c.2161C>T, NM_001321099.2:c.1639C>T, NM_001321099.1:c.1639C>T, NM_001321100.2:c.994C>T, NM_001321100.1:c.994C>T, XM_017004993.2:c.1639C>T, XM_017004993.1:c.1639C>T, XM_017004992.1:c.1639C>T, NP_079265.2:p.Leu721Phe, NP_001308028.1:p.Leu547Phe, NP_001308029.1:p.Leu332Phe, XP_016860482.1:p.Leu547Phe, XP_016860481.1:p.Leu547Phe

Select item 147673604816.

rs1476736048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:196885453 (GRCh38)
2:197750177 (GRCh37)
Canonical SPDI:: NC_000002.12:196885452:A:C
Gene:: PGAP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.196885453A>C, NC_000002.11:g.197750177A>C, NG_046780.1:g.46543T>G, NM_024989.4:c.1243T>G, NM_024989.3:c.1243T>G, NM_001321099.2:c.721T>G, NM_001321099.1:c.721T>G, NM_001321100.2:c.76T>G, NM_001321100.1:c.76T>G, XM_017004993.2:c.721T>G, XM_017004993.1:c.721T>G, XR_001738960.2:n.1334T>G, XR_001738960.1:n.1622T>G, XM_017004992.1:c.721T>G, XM_047445910.1:c.1243T>G, XR_007082522.1:n.1334T>G, NP_079265.2:p.Trp415Gly, NP_001308028.1:p.Trp241Gly, NP_001308029.1:p.Trp26Gly, XP_016860482.1:p.Trp241Gly, XP_016860481.1:p.Trp241Gly, XP_047301866.1:p.Trp415Gly

Select item 147605898417.

rs1476058984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:196845919 (GRCh38)
2:197710643 (GRCh37)
Canonical SPDI:: NC_000002.12:196845918:A:G
Gene:: PGAP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.196845919A>G, NC_000002.11:g.197710643A>G, NG_046780.1:g.86077T>C, NM_024989.4:c.2249T>C, NM_024989.3:c.2249T>C, NM_001321099.2:c.1727T>C, NM_001321099.1:c.1727T>C, NM_001321100.2:c.1082T>C, NM_001321100.1:c.1082T>C, XM_017004993.2:c.1727T>C, XM_017004993.1:c.1727T>C, XM_017004992.1:c.1727T>C, NP_079265.2:p.Leu750Pro, NP_001308028.1:p.Leu576Pro, NP_001308029.1:p.Leu361Pro, XP_016860482.1:p.Leu576Pro, XP_016860481.1:p.Leu576Pro

Select item 147383206018.

rs1473832060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:196902607 (GRCh38)
2:197767331 (GRCh37)
Canonical SPDI:: NC_000002.12:196902606:T:C
Gene:: PGAP1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.196902607T>C, NC_000002.11:g.197767331T>C, NG_046780.1:g.29389A>G, NM_024989.4:c.785A>G, NM_024989.3:c.785A>G, NM_001321099.2:c.263A>G, NM_001321099.1:c.263A>G, NM_001321100.2:c.-327A>G, NM_001321100.1:c.-327A>G, XM_017004993.2:c.263A>G, XM_017004993.1:c.263A>G, XR_001738960.2:n.876A>G, XR_001738960.1:n.1164A>G, XM_017004992.1:c.263A>G, XM_047445910.1:c.785A>G, XR_007082522.1:n.876A>G, NP_079265.2:p.His262Arg, NP_001308028.1:p.His88Arg, XP_016860482.1:p.His88Arg, XP_016860481.1:p.His88Arg, XP_047301866.1:p.His262Arg

Select item 147183852819.

rs1471838528 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:196872492 (GRCh38)
2:197737216 (GRCh37)
Canonical SPDI:: NC_000002.12:196872491:A:G
Gene:: PGAP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.196872492A>G, NC_000002.11:g.197737216A>G, NG_046780.1:g.59504T>C, NM_024989.4:c.1677T>C, NM_024989.3:c.1677T>C, NM_001321099.2:c.1155T>C, NM_001321099.1:c.1155T>C, NM_001321100.2:c.510T>C, NM_001321100.1:c.510T>C, XM_017004993.2:c.1155T>C, XM_017004993.1:c.1155T>C, XM_017004992.1:c.1155T>C, XR_007082522.1:n.1768T>C

Select item 147107573020.

rs1471075730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:196892387 (GRCh38)
2:197757111 (GRCh37)
Canonical SPDI:: NC_000002.12:196892386:C:G,NC_000002.12:196892386:C:T
Gene:: PGAP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.196892387C>G, NC_000002.12:g.196892387C>T, NC_000002.11:g.197757111C>G, NC_000002.11:g.197757111C>T, NG_046780.1:g.39609G>C, NG_046780.1:g.39609G>A, NM_024989.4:c.1048G>C, NM_024989.4:c.1048G>A, NM_024989.3:c.1048G>C, NM_024989.3:c.1048G>A, NM_001321099.2:c.526G>C, NM_001321099.2:c.526G>A, NM_001321099.1:c.526G>C, NM_001321099.1:c.526G>A, XM_017004993.2:c.526G>C, XM_017004993.2:c.526G>A, XM_017004993.1:c.526G>C, XM_017004993.1:c.526G>A, XR_001738960.2:n.1139G>C, XR_001738960.2:n.1139G>A, XR_001738960.1:n.1427G>C, XR_001738960.1:n.1427G>A, XM_017004992.1:c.526G>C, XM_017004992.1:c.526G>A, XM_047445910.1:c.1048G>C, XM_047445910.1:c.1048G>A, XR_007082522.1:n.1139G>C, XR_007082522.1:n.1139G>A, NP_079265.2:p.Val350Leu, NP_079265.2:p.Val350Ile, NP_001308028.1:p.Val176Leu, NP_001308028.1:p.Val176Ile, XP_016860482.1:p.Val176Leu, XP_016860482.1:p.Val176Ile, XP_016860481.1:p.Val176Leu, XP_016860481.1:p.Val176Ile, XP_047301866.1:p.Val350Leu, XP_047301866.1:p.Val350Ile

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