SNP Links for Protein (Select 1021312190) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 729

<< First< Prev

Page of 37

Next >Last >>

Select item 14891999451.

rs1489199945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:45403208 (GRCh38)
15:45695406 (GRCh37)
Canonical SPDI:: NC_000015.10:45403207:C:T
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00016/2 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.45403208C>T, NC_000015.9:g.45695406C>T, NG_011674.2:g.4110G>A, NM_024063.3:c.779C>T, NM_024063.2:c.779C>T, NR_136646.2:n.873C>T, NR_136646.1:n.888C>T, NR_136648.2:n.873C>T, NR_136648.1:n.888C>T, NR_136647.2:n.873C>T, NR_136647.1:n.888C>T, NR_027635.2:n.873C>T, NR_027635.1:n.888C>T, NR_136645.2:n.873C>T, NR_136645.1:n.888C>T, NM_001323640.2:c.779C>T, NM_001323640.1:c.779C>T, NP_076968.2:p.Ala260Val, NP_001310569.1:p.Ala260Val

Select item 14891696342.

rs1489169634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45402637 (GRCh38)
15:45694835 (GRCh37)
Canonical SPDI:: NC_000015.10:45402636:G:A
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000015.10:g.45402637G>A, NC_000015.9:g.45694835G>A, NG_011674.2:g.4681C>T, NM_024063.3:c.208G>A, NM_024063.2:c.208G>A, NR_136646.2:n.302G>A, NR_136646.1:n.317G>A, NR_136648.2:n.302G>A, NR_136648.1:n.317G>A, NR_136647.2:n.302G>A, NR_136647.1:n.317G>A, NR_027635.2:n.302G>A, NR_027635.1:n.317G>A, NR_136645.2:n.302G>A, NR_136645.1:n.317G>A, NM_001323640.2:c.208G>A, NM_001323640.1:c.208G>A, NP_076968.2:p.Gly70Ser, NP_001310569.1:p.Gly70Ser

Select item 14855792663.

rs1485579266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:45402872 (GRCh38)
15:45695070 (GRCh37)
Canonical SPDI:: NC_000015.10:45402871:A:T
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45402872A>T, NC_000015.9:g.45695070A>T, NG_011674.2:g.4446T>A, NM_024063.3:c.443A>T, NM_024063.2:c.443A>T, NR_136646.2:n.537A>T, NR_136646.1:n.552A>T, NR_136648.2:n.537A>T, NR_136648.1:n.552A>T, NR_136647.2:n.537A>T, NR_136647.1:n.552A>T, NR_027635.2:n.537A>T, NR_027635.1:n.552A>T, NR_136645.2:n.537A>T, NR_136645.1:n.552A>T, NM_001323640.2:c.443A>T, NM_001323640.1:c.443A>T, NP_076968.2:p.His148Leu, NP_001310569.1:p.His148Leu

Select item 14851037344.

rs1485103734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45402905 (GRCh38)
15:45695103 (GRCh37)
Canonical SPDI:: NC_000015.10:45402904:T:C
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.45402905T>C, NC_000015.9:g.45695103T>C, NG_011674.2:g.4413A>G, NM_024063.3:c.476T>C, NM_024063.2:c.476T>C, NR_136646.2:n.570T>C, NR_136646.1:n.585T>C, NR_136648.2:n.570T>C, NR_136648.1:n.585T>C, NR_136647.2:n.570T>C, NR_136647.1:n.585T>C, NR_027635.2:n.570T>C, NR_027635.1:n.585T>C, NR_136645.2:n.570T>C, NR_136645.1:n.585T>C, NM_001323640.2:c.476T>C, NM_001323640.1:c.476T>C, NP_076968.2:p.Leu159Pro, NP_001310569.1:p.Leu159Pro

Select item 14848570725.

rs1484857072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:45403263 (GRCh38)
15:45695461 (GRCh37)
Canonical SPDI:: NC_000015.10:45403262:C:A,NC_000015.10:45403262:C:G
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45403263C>A, NC_000015.10:g.45403263C>G, NC_000015.9:g.45695461C>A, NC_000015.9:g.45695461C>G, NG_011674.2:g.4055G>T, NG_011674.2:g.4055G>C, NM_024063.3:c.834C>A, NM_024063.3:c.834C>G, NM_024063.2:c.834C>A, NM_024063.2:c.834C>G, NR_136646.2:n.928C>A, NR_136646.2:n.928C>G, NR_136646.1:n.943C>A, NR_136646.1:n.943C>G, NR_136648.2:n.928C>A, NR_136648.2:n.928C>G, NR_136648.1:n.943C>A, NR_136648.1:n.943C>G, NR_136647.2:n.928C>A, NR_136647.2:n.928C>G, NR_136647.1:n.943C>A, NR_136647.1:n.943C>G, NR_027635.2:n.928C>A, NR_027635.2:n.928C>G, NR_027635.1:n.943C>A, NR_027635.1:n.943C>G, NR_136645.2:n.928C>A, NR_136645.2:n.928C>G, NR_136645.1:n.943C>A, NR_136645.1:n.943C>G, NM_001323640.2:c.834C>A, NM_001323640.2:c.834C>G, NM_001323640.1:c.834C>A, NM_001323640.1:c.834C>G

Select item 14847544176.

rs1484754417 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45402456 (GRCh38)
15:45694654 (GRCh37)
Canonical SPDI:: NC_000015.10:45402455:T:C
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,2KB_upstream_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_000015.10:g.45402456T>C, NC_000015.9:g.45694654T>C, NG_011674.2:g.4862A>G, NM_024063.3:c.27T>C, NM_024063.2:c.27T>C, NR_136646.2:n.121T>C, NR_136646.1:n.136T>C, NR_136648.2:n.121T>C, NR_136648.1:n.136T>C, NR_136647.2:n.121T>C, NR_136647.1:n.136T>C, NR_027635.2:n.121T>C, NR_027635.1:n.136T>C, NR_136645.2:n.121T>C, NR_136645.1:n.136T>C, NM_001323640.2:c.27T>C, NM_001323640.1:c.27T>C

Select item 14843070687.

rs1484307068 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAAAA [Show Flanks]
Chromosome:: 15:45415796 (GRCh38)
15:45707995 (GRCh37)
Canonical SPDI:: NC_000015.10:45415796:AAAAAA:AAAAAAAAAAAAA
Gene:: SPATA5L1 (Varview)
Functional Consequence:: stop_lost,coding_sequence_variant,non_coding_transcript_variant,intron_variant,frameshift_variant
HGVS:: NC_000015.10:g.45415802_45415803insAAAAAAA, NC_000015.9:g.45708000_45708001insAAAAAAA, NR_136646.2:n.2149_2150insAAAAAAA, NR_136646.1:n.2164_2165insAAAAAAA, NR_136647.2:n.2116_2117insAAAAAAA, NR_136647.1:n.2131_2132insAAAAAAA, NR_027635.2:n.1954_1955insAAAAAAA, NR_027635.1:n.1969_1970insAAAAAAA, NM_001323640.2:c.1860_1861insAAAAAAA, NM_001323640.1:c.1860_1861insAAAAAAA, NP_001310569.1:p.Ter621LysextTer?

Select item 14826708688.

rs1482670868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45414754 (GRCh38)
15:45706952 (GRCh37)
Canonical SPDI:: NC_000015.10:45414753:G:A
Gene:: SPATA5L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45414754G>A, NC_000015.9:g.45706952G>A, NM_024063.3:c.1618G>A, NM_024063.2:c.1618G>A, NR_136646.2:n.1907G>A, NR_136646.1:n.1922G>A, NR_136648.2:n.1907G>A, NR_136648.1:n.1922G>A, NR_136647.2:n.1874G>A, NR_136647.1:n.1889G>A, NR_027635.2:n.1712G>A, NR_027635.1:n.1727G>A, NR_136645.2:n.1719G>A, NR_136645.1:n.1734G>A, NM_001323640.2:c.1618G>A, NM_001323640.1:c.1618G>A, NP_076968.2:p.Gly540Arg, NP_001310569.1:p.Gly540Arg

Select item 14818555499.

rs1481855549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:45410399 (GRCh38)
15:45702597 (GRCh37)
Canonical SPDI:: NC_000015.10:45410398:A:G
Gene:: SPATA5L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45410399A>G, NC_000015.9:g.45702597A>G, NM_024063.3:c.1303A>G, NM_024063.2:c.1303A>G, NR_136646.2:n.1592A>G, NR_136646.1:n.1607A>G, NR_136648.2:n.1592A>G, NR_136648.1:n.1607A>G, NR_136647.2:n.1559A>G, NR_136647.1:n.1574A>G, NR_027635.2:n.1397A>G, NR_027635.1:n.1412A>G, NR_136645.2:n.1404A>G, NR_136645.1:n.1419A>G, NM_001323640.2:c.1303A>G, NM_001323640.1:c.1303A>G, NP_076968.2:p.Ile435Val, NP_001310569.1:p.Ile435Val

Select item 148182685910.

rs1481826859 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 15:45415804 (GRCh38)
15:45708002 (GRCh37)
Canonical SPDI:: NC_000015.10:45415803:G:
Gene:: SPATA5L1 (Varview)
Functional Consequence:: intron_variant,terminator_codon_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45415804del, NC_000015.9:g.45708002del, NR_136646.2:n.2151del, NR_136646.1:n.2166del, NR_136647.2:n.2118del, NR_136647.1:n.2133del, NR_027635.2:n.1956del, NR_027635.1:n.1971del, NM_001323640.2:c.1862del, NM_001323640.1:c.1862del, NP_001310569.1:p.Lys620_Ter621insTer

Select item 148027958311.

rs1480279583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45410409 (GRCh38)
15:45702607 (GRCh37)
Canonical SPDI:: NC_000015.10:45410408:T:C
Gene:: SPATA5L1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.45410409T>C, NC_000015.9:g.45702607T>C, NM_024063.3:c.1313T>C, NM_024063.2:c.1313T>C, NR_136646.2:n.1602T>C, NR_136646.1:n.1617T>C, NR_136648.2:n.1602T>C, NR_136648.1:n.1617T>C, NR_136647.2:n.1569T>C, NR_136647.1:n.1584T>C, NR_027635.2:n.1407T>C, NR_027635.1:n.1422T>C, NR_136645.2:n.1414T>C, NR_136645.1:n.1429T>C, NM_001323640.2:c.1313T>C, NM_001323640.1:c.1313T>C, NP_076968.2:p.Leu438Pro, NP_001310569.1:p.Leu438Pro

Select item 147876462512.

rs1478764625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:45403137 (GRCh38)
15:45695335 (GRCh37)
Canonical SPDI:: NC_000015.10:45403136:G:T
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45403137G>T, NC_000015.9:g.45695335G>T, NG_011674.2:g.4181C>A, NM_024063.3:c.708G>T, NM_024063.2:c.708G>T, NR_136646.2:n.802G>T, NR_136646.1:n.817G>T, NR_136648.2:n.802G>T, NR_136648.1:n.817G>T, NR_136647.2:n.802G>T, NR_136647.1:n.817G>T, NR_027635.2:n.802G>T, NR_027635.1:n.817G>T, NR_136645.2:n.802G>T, NR_136645.1:n.817G>T, NM_001323640.2:c.708G>T, NM_001323640.1:c.708G>T

Select item 147875192113.

rs1478751921 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45402942 (GRCh38)
15:45695140 (GRCh37)
Canonical SPDI:: NC_000015.10:45402941:T:C
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000022/5 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45402942T>C, NC_000015.9:g.45695140T>C, NG_011674.2:g.4376A>G, NM_024063.3:c.513T>C, NM_024063.2:c.513T>C, NR_136646.2:n.607T>C, NR_136646.1:n.622T>C, NR_136648.2:n.607T>C, NR_136648.1:n.622T>C, NR_136647.2:n.607T>C, NR_136647.1:n.622T>C, NR_027635.2:n.607T>C, NR_027635.1:n.622T>C, NR_136645.2:n.607T>C, NR_136645.1:n.622T>C, NM_001323640.2:c.513T>C, NM_001323640.1:c.513T>C

Select item 147547187314.

rs1475471873 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCCCGCTCCGC>- [Show Flanks]
Chromosome:: 15:45403081 (GRCh38)
15:45695279 (GRCh37)
Canonical SPDI:: NC_000015.10:45403074:CTCCGCCTCCCGCTCCGC:CTCCGC
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45403081_45403092del, NC_000015.9:g.45695279_45695290del, NG_011674.2:g.4232_4243del, NM_024063.3:c.652_663del, NM_024063.2:c.652_663del, NR_136646.2:n.746_757del, NR_136646.1:n.761_772del, NR_136648.2:n.746_757del, NR_136648.1:n.761_772del, NR_136647.2:n.746_757del, NR_136647.1:n.761_772del, NR_027635.2:n.746_757del, NR_027635.1:n.761_772del, NR_136645.2:n.746_757del, NR_136645.1:n.761_772del, NM_001323640.2:c.652_663del, NM_001323640.1:c.652_663del, NP_076968.2:p.Leu218_Arg221del, NP_001310569.1:p.Leu218_Arg221del

Select item 147517646315.

rs1475176463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:45403398 (GRCh38)
15:45695596 (GRCh37)
Canonical SPDI:: NC_000015.10:45403397:C:A
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45403398C>A, NC_000015.9:g.45695596C>A, NG_011674.2:g.3920G>T, NM_024063.3:c.969C>A, NM_024063.2:c.969C>A, NR_136646.2:n.1063C>A, NR_136646.1:n.1078C>A, NR_136648.2:n.1063C>A, NR_136648.1:n.1078C>A, NR_136647.2:n.1063C>A, NR_136647.1:n.1078C>A, NR_027635.2:n.1063C>A, NR_027635.1:n.1078C>A, NR_136645.2:n.1063C>A, NR_136645.1:n.1078C>A, NM_001323640.2:c.969C>A, NM_001323640.1:c.969C>A

Select item 147341901316.

rs1473419013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45410391 (GRCh38)
15:45702589 (GRCh37)
Canonical SPDI:: NC_000015.10:45410390:T:C
Gene:: SPATA5L1 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000015.10:g.45410391T>C, NC_000015.9:g.45702589T>C, NM_024063.3:c.1295T>C, NM_024063.2:c.1295T>C, NR_136646.2:n.1584T>C, NR_136646.1:n.1599T>C, NR_136648.2:n.1584T>C, NR_136648.1:n.1599T>C, NR_136647.2:n.1551T>C, NR_136647.1:n.1566T>C, NR_027635.2:n.1389T>C, NR_027635.1:n.1404T>C, NR_136645.2:n.1396T>C, NR_136645.1:n.1411T>C, NM_001323640.2:c.1295T>C, NM_001323640.1:c.1295T>C, NP_076968.2:p.Ile432Thr, NP_001310569.1:p.Ile432Thr

Select item 147303236717.

rs1473032367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45402556 (GRCh38)
15:45694754 (GRCh37)
Canonical SPDI:: NC_000015.10:45402555:T:C
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000015.10:g.45402556T>C, NC_000015.9:g.45694754T>C, NG_011674.2:g.4762A>G, NM_024063.3:c.127T>C, NM_024063.2:c.127T>C, NR_136646.2:n.221T>C, NR_136646.1:n.236T>C, NR_136648.2:n.221T>C, NR_136648.1:n.236T>C, NR_136647.2:n.221T>C, NR_136647.1:n.236T>C, NR_027635.2:n.221T>C, NR_027635.1:n.236T>C, NR_136645.2:n.221T>C, NR_136645.1:n.236T>C, NM_001323640.2:c.127T>C, NM_001323640.1:c.127T>C

Select item 147194357918.

rs1471943579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:45414770 (GRCh38)
15:45706968 (GRCh37)
Canonical SPDI:: NC_000015.10:45414769:T:A,NC_000015.10:45414769:T:C
Gene:: SPATA5L1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.45414770T>A, NC_000015.10:g.45414770T>C, NC_000015.9:g.45706968T>A, NC_000015.9:g.45706968T>C, NM_024063.3:c.1634T>A, NM_024063.3:c.1634T>C, NM_024063.2:c.1634T>A, NM_024063.2:c.1634T>C, NR_136646.2:n.1923T>A, NR_136646.2:n.1923T>C, NR_136646.1:n.1938T>A, NR_136646.1:n.1938T>C, NR_136648.2:n.1923T>A, NR_136648.2:n.1923T>C, NR_136648.1:n.1938T>A, NR_136648.1:n.1938T>C, NR_136647.2:n.1890T>A, NR_136647.2:n.1890T>C, NR_136647.1:n.1905T>A, NR_136647.1:n.1905T>C, NR_027635.2:n.1728T>A, NR_027635.2:n.1728T>C, NR_027635.1:n.1743T>A, NR_027635.1:n.1743T>C, NR_136645.2:n.1735T>A, NR_136645.2:n.1735T>C, NR_136645.1:n.1750T>A, NR_136645.1:n.1750T>C, NM_001323640.2:c.1634T>A, NM_001323640.2:c.1634T>C, NM_001323640.1:c.1634T>A, NM_001323640.1:c.1634T>C, NP_076968.2:p.Val545Glu, NP_076968.2:p.Val545Ala, NP_001310569.1:p.Val545Glu, NP_001310569.1:p.Val545Ala

Select item 146949335619.

rs1469493356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:45402999 (GRCh38)
15:45695197 (GRCh37)
Canonical SPDI:: NC_000015.10:45402998:T:C
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.45402999T>C, NC_000015.9:g.45695197T>C, NG_011674.2:g.4319A>G, NM_024063.3:c.570T>C, NM_024063.2:c.570T>C, NR_136646.2:n.664T>C, NR_136646.1:n.679T>C, NR_136648.2:n.664T>C, NR_136648.1:n.679T>C, NR_136647.2:n.664T>C, NR_136647.1:n.679T>C, NR_027635.2:n.664T>C, NR_027635.1:n.679T>C, NR_136645.2:n.664T>C, NR_136645.1:n.679T>C, NM_001323640.2:c.570T>C, NM_001323640.1:c.570T>C

Select item 146904827020.

rs1469048270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45403273 (GRCh38)
15:45695471 (GRCh37)
Canonical SPDI:: NC_000015.10:45403272:G:A
Gene:: GATM (Varview), SPATA5L1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.45403273G>A, NC_000015.9:g.45695471G>A, NG_011674.2:g.4045C>T, NM_024063.3:c.844G>A, NM_024063.2:c.844G>A, NR_136646.2:n.938G>A, NR_136646.1:n.953G>A, NR_136648.2:n.938G>A, NR_136648.1:n.953G>A, NR_136647.2:n.938G>A, NR_136647.1:n.953G>A, NR_027635.2:n.938G>A, NR_027635.1:n.953G>A, NR_136645.2:n.938G>A, NR_136645.1:n.953G>A, NM_001323640.2:c.844G>A, NM_001323640.1:c.844G>A, NP_076968.2:p.Val282Met, NP_001310569.1:p.Val282Met

<< First< Prev

Page of 37

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 1021312190) (729)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: