SNP Links for Protein (Select 9558751) - SNP

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Links from Protein

Items: 1 to 20 of 654

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Select item 14893313701.

rs1489331370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:23486719 (GRCh38)
16:23498040 (GRCh37)
Canonical SPDI:: NC_000016.10:23486718:C:A
Gene:: GGA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.23486719C>A, NC_000016.9:g.23498040C>A, NM_015044.4:c.651G>T, XM_047433801.1:c.621G>T, XM_047433802.1:c.540G>T, NM_138640.1:c.*122G>T, NP_055859.1:p.Leu217Phe, XP_047289757.1:p.Leu207Phe, XP_047289758.1:p.Leu180Phe

Select item 14890132902.

rs1489013290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:23478371 (GRCh38)
16:23489692 (GRCh37)
Canonical SPDI:: NC_000016.10:23478370:G:C
Gene:: GGA2 (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_000016.10:g.23478371G>C, NC_000016.9:g.23489692G>C, NM_015044.4:c.1289C>G, XM_047433801.1:c.1259C>G, XM_047433802.1:c.1178C>G, NM_138640.1:c.*760C>G, NP_055859.1:p.Pro430Arg, XP_047289757.1:p.Pro420Arg, XP_047289758.1:p.Pro393Arg

Select item 14887461693.

rs1488746169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:23510398 (GRCh38)
16:23521719 (GRCh37)
Canonical SPDI:: NC_000016.10:23510397:G:A
Gene:: GGA2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.23510398G>A, NC_000016.9:g.23521719G>A, NM_015044.4:c.14C>T, NM_138640.1:c.14C>T, NP_055859.1:p.Ala5Val

Select item 14876208214.

rs1487620821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:23470059 (GRCh38)
16:23481380 (GRCh37)
Canonical SPDI:: NC_000016.10:23470058:C:G
Gene:: GGA2 (Varview)
Functional Consequence:: coding_sequence_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_000016.10:g.23470059C>G, NC_000016.9:g.23481380C>G, NM_015044.4:c.1557G>C, XM_047433801.1:c.1527G>C, XM_047433802.1:c.1446G>C, NP_055859.1:p.Leu519Phe, XP_047289757.1:p.Leu509Phe, XP_047289758.1:p.Leu482Phe

Select item 14869173475.

rs1486917347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:23491797 (GRCh38)
16:23503118 (GRCh37)
Canonical SPDI:: NC_000016.10:23491796:G:A,NC_000016.10:23491796:G:C
Gene:: GGA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.23491797G>A, NC_000016.10:g.23491797G>C, NC_000016.9:g.23503118G>A, NC_000016.9:g.23503118G>C, NM_015044.4:c.355C>T, NM_015044.4:c.355C>G, XM_047433801.1:c.325C>T, XM_047433801.1:c.325C>G, XM_047433802.1:c.244C>T, XM_047433802.1:c.244C>G, NM_138640.1:c.355C>T, NM_138640.1:c.355C>G, NP_055859.1:p.Leu119Val, XP_047289757.1:p.Leu109Val, XP_047289758.1:p.Leu82Val

Select item 14867605786.

rs1486760578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:23480660 (GRCh38)
16:23491981 (GRCh37)
Canonical SPDI:: NC_000016.10:23480659:T:A
Gene:: GGA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23480660T>A, NC_000016.9:g.23491981T>A, NM_015044.4:c.991A>T, XM_047433801.1:c.961A>T, XM_047433802.1:c.880A>T, NM_138640.1:c.*462A>T, NP_055859.1:p.Ile331Phe, XP_047289757.1:p.Ile321Phe, XP_047289758.1:p.Ile294Phe

Select item 14845299987.

rs1484529998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:23493430 (GRCh38)
16:23504751 (GRCh37)
Canonical SPDI:: NC_000016.10:23493429:C:T
Gene:: GGA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.23493430C>T, NC_000016.9:g.23504751C>T, NM_015044.4:c.281G>A, XM_047433801.1:c.251G>A, XM_047433802.1:c.170G>A, NM_138640.1:c.281G>A, NP_055859.1:p.Gly94Glu, XP_047289757.1:p.Gly84Glu, XP_047289758.1:p.Gly57Glu

Select item 14812928778.

rs1481292877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:23482968 (GRCh38)
16:23494289 (GRCh37)
Canonical SPDI:: NC_000016.10:23482967:G:A
Gene:: GGA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23482968G>A, NC_000016.9:g.23494289G>A, NM_015044.4:c.835C>T, XM_047433801.1:c.805C>T, XM_047433802.1:c.724C>T, NM_138640.1:c.*306C>T

Select item 14795385469.

rs1479538546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:23475012 (GRCh38)
16:23486333 (GRCh37)
Canonical SPDI:: NC_000016.10:23475011:T:C
Gene:: GGA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23475012T>C, NC_000016.9:g.23486333T>C, NM_015044.4:c.1342A>G, XM_047433801.1:c.1312A>G, XM_047433802.1:c.1231A>G, NM_138640.1:c.*813A>G, NP_055859.1:p.Lys448Glu, XP_047289757.1:p.Lys438Glu, XP_047289758.1:p.Lys411Glu

Select item 147191513110.

rs1471915131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:23479881 (GRCh38)
16:23491202 (GRCh37)
Canonical SPDI:: NC_000016.10:23479880:T:C
Gene:: GGA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00003/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23479881T>C, NC_000016.9:g.23491202T>C, NM_015044.4:c.1013A>G, XM_047433801.1:c.983A>G, XM_047433802.1:c.902A>G, NM_138640.1:c.*484A>G, NP_055859.1:p.Gln338Arg, XP_047289757.1:p.Gln328Arg, XP_047289758.1:p.Gln301Arg

Select item 146939077111.

rs1469390771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:23475003 (GRCh38)
16:23486324 (GRCh37)
Canonical SPDI:: NC_000016.10:23475002:G:C
Gene:: GGA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.23475003G>C, NC_000016.9:g.23486324G>C, NM_015044.4:c.1351C>G, XM_047433801.1:c.1321C>G, XM_047433802.1:c.1240C>G, NM_138640.1:c.*822C>G, NP_055859.1:p.Pro451Ala, XP_047289757.1:p.Pro441Ala, XP_047289758.1:p.Pro414Ala

Select item 146784526512.

rs1467845265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:23510346 (GRCh38)
16:23521667 (GRCh37)
Canonical SPDI:: NC_000016.10:23510345:C:G
Gene:: GGA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.23510346C>G, NC_000016.9:g.23521667C>G, NM_015044.4:c.66G>C, NM_138640.1:c.66G>C

Select item 146744875213.

rs1467448752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:23510407 (GRCh38)
16:23521728 (GRCh37)
Canonical SPDI:: NC_000016.10:23510406:G:A
Gene:: GGA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.23510407G>A, NC_000016.9:g.23521728G>A, NM_015044.4:c.5C>T, NM_138640.1:c.5C>T, NP_055859.1:p.Ala2Val

Select item 146630166914.

rs1466301669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:23495768 (GRCh38)
16:23507089 (GRCh37)
Canonical SPDI:: NC_000016.10:23495767:T:C,NC_000016.10:23495767:T:G
Gene:: GGA2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23495768T>C, NC_000016.10:g.23495768T>G, NC_000016.9:g.23507089T>C, NC_000016.9:g.23507089T>G, NM_015044.4:c.102A>G, NM_015044.4:c.102A>C, XM_047433801.1:c.72A>G, XM_047433801.1:c.72A>C, XM_047433802.1:c.-10A>G, XM_047433802.1:c.-10A>C, NM_138640.1:c.102A>G, NM_138640.1:c.102A>C

Select item 146479694715.

rs1464796947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:23494318 (GRCh38)
16:23505639 (GRCh37)
Canonical SPDI:: NC_000016.10:23494317:A:G
Gene:: GGA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000016.10:g.23494318A>G, NC_000016.9:g.23505639A>G, NM_015044.4:c.237T>C, XM_047433801.1:c.207T>C, XM_047433802.1:c.126T>C, NM_138640.1:c.237T>C

Select item 146254524116.

rs1462545241 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:23493362 (GRCh38)
16:23504683 (GRCh37)
Canonical SPDI:: NC_000016.10:23493361:T:C
Gene:: GGA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23493362T>C, NC_000016.9:g.23504683T>C, NM_015044.4:c.349A>G, XM_047433801.1:c.319A>G, XM_047433802.1:c.238A>G, NM_138640.1:c.349A>G, NP_055859.1:p.Lys117Glu, XP_047289757.1:p.Lys107Glu, XP_047289758.1:p.Lys80Glu

Select item 146084944217.

rs1460849442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:23475054 (GRCh38)
16:23486375 (GRCh37)
Canonical SPDI:: NC_000016.10:23475053:C:T
Gene:: GGA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23475054C>T, NC_000016.9:g.23486375C>T, NM_015044.4:c.1300G>A, XM_047433801.1:c.1270G>A, XM_047433802.1:c.1189G>A, NM_138640.1:c.*771G>A, NP_055859.1:p.Val434Ile, XP_047289757.1:p.Val424Ile, XP_047289758.1:p.Val397Ile

Select item 145824263018.

rs1458242630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:23478427 (GRCh38)
16:23489748 (GRCh37)
Canonical SPDI:: NC_000016.10:23478426:G:T
Gene:: GGA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.23478427G>T, NC_000016.9:g.23489748G>T, NM_015044.4:c.1233C>A, XM_047433801.1:c.1203C>A, XM_047433802.1:c.1122C>A, NM_138640.1:c.*704C>A, NP_055859.1:p.Asn411Lys, XP_047289757.1:p.Asn401Lys, XP_047289758.1:p.Asn374Lys

Select item 145776608919.

rs1457766089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:23478894 (GRCh38)
16:23490215 (GRCh37)
Canonical SPDI:: NC_000016.10:23478893:C:T
Gene:: GGA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.23478894C>T, NC_000016.9:g.23490215C>T, NM_015044.4:c.1147G>A, XM_047433801.1:c.1117G>A, XM_047433802.1:c.1036G>A, NM_138640.1:c.*618G>A, NP_055859.1:p.Val383Ile, XP_047289757.1:p.Val373Ile, XP_047289758.1:p.Val346Ile

Select item 145742155320.

rs1457421553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:23479869 (GRCh38)
16:23491190 (GRCh37)
Canonical SPDI:: NC_000016.10:23479868:C:A
Gene:: GGA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.23479869C>A, NC_000016.9:g.23491190C>A, NM_015044.4:c.1025G>T, XM_047433801.1:c.995G>T, XM_047433802.1:c.914G>T, NM_138640.1:c.*496G>T, NP_055859.1:p.Gly342Val, XP_047289757.1:p.Gly332Val, XP_047289758.1:p.Gly305Val

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