SNP Links for Protein (Select 767905738) - SNP

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Links from Protein

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Select item 14908374181.

rs1490837418 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGAGACGG>- [Show Flanks]
Chromosome:: 1:27102398 (GRCh38)
1:27428889 (GRCh37)
Canonical SPDI:: NC_000001.11:27102388:TGGAGACGGTGGAGACGG:TGGAGACGG
Gene:: SLC9A1 (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.27102389TGGAGACGG[1], NC_000001.10:g.27428880TGGAGACGG[1], NG_030006.1:g.57555CCGTCTCCA[1], NM_003047.5:c.1799CCGTCTCCA[1], NM_003047.4:c.1799CCGTCTCCA[1], NR_046474.2:n.2129CCGTCTCCA[1], NR_046474.1:n.2134CCGTCTCCA[1], XM_011542021.4:c.1469CCGTCTCCA[1], XM_011542021.3:c.1469CCGTCTCCA[1], XM_011542021.2:c.1469CCGTCTCCA[1], XM_011542021.1:c.1469CCGTCTCCA[1], XM_047428769.1:c.1469CCGTCTCCA[1], NP_003038.2:p.Thr603_Ser605del, XP_011540323.1:p.Thr493_Ser495del, XP_047284725.1:p.Thr493_Ser495del

Select item 14898354402.

rs1489835440 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAC [Show Flanks]
Chromosome:: 1:27109652 (GRCh38)
1:27436144 (GRCh37)
Canonical SPDI:: NC_000001.11:27109652:C:CACAC
Gene:: SLC9A1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: CACA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27109653_27109654insACAC, NC_000001.10:g.27436144_27436145insACAC, NG_030006.1:g.50308_50309insTGTG, NM_003047.5:c.938_939insTGTG, NM_003047.4:c.938_939insTGTG, NR_046474.2:n.1268_1269insTGTG, NR_046474.1:n.1273_1274insTGTG, XM_011542021.4:c.608_609insTGTG, XM_011542021.3:c.608_609insTGTG, XM_011542021.2:c.608_609insTGTG, XM_011542021.1:c.608_609insTGTG, XM_047428769.1:c.608_609insTGTG, NP_003038.2:p.Ile315fs, XP_011540323.1:p.Ile205fs, XP_047284725.1:p.Ile205fs

Select item 14855330963.

rs1485533096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27109580 (GRCh38)
1:27436071 (GRCh37)
Canonical SPDI:: NC_000001.11:27109579:G:A
Gene:: SLC9A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.27109580G>A, NC_000001.10:g.27436071G>A, NG_030006.1:g.50381C>T, NM_003047.5:c.1011C>T, NM_003047.4:c.1011C>T, NR_046474.2:n.1341C>T, NR_046474.1:n.1346C>T, XM_011542021.4:c.681C>T, XM_011542021.3:c.681C>T, XM_011542021.2:c.681C>T, XM_011542021.1:c.681C>T, XM_047428769.1:c.681C>T

Select item 14853963094.

rs1485396309 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCCTC [Show Flanks]
Chromosome:: 1:27100481 (GRCh38)
1:27426973 (GRCh37)
Canonical SPDI:: NC_000001.11:27100481:TCGTCCTCGTCCTC:TCGTCCTCGTCCTCGTCCTC
Gene:: SLC9A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_insertion,coding_sequence_variant
HGVS:: NC_000001.11:g.27100484GTCCTC[3], NC_000001.10:g.27426975GTCCTC[3], NG_030006.1:g.59468GGACGA[3], NM_003047.5:c.2262GGACGA[3], NM_003047.4:c.2262GGACGA[3], NR_046474.2:n.2592GGACGA[3], NR_046474.1:n.2597GGACGA[3], XM_011542021.4:c.1932GGACGA[3], XM_011542021.3:c.1932GGACGA[3], XM_011542021.2:c.1932GGACGA[3], XM_011542021.1:c.1932GGACGA[3], XM_047428769.1:c.1932GGACGA[3], NP_003038.2:p.754ED[3], XP_011540323.1:p.644ED[3], XP_047284725.1:p.644ED[3]

Select item 14838308525.

rs1483830852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:27100517 (GRCh38)
1:27427008 (GRCh37)
Canonical SPDI:: NC_000001.11:27100516:C:G
Gene:: SLC9A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27100517C>G, NC_000001.10:g.27427008C>G, NG_030006.1:g.59444G>C, NM_003047.5:c.2238G>C, NM_003047.4:c.2238G>C, NR_046474.2:n.2568G>C, NR_046474.1:n.2573G>C, XM_011542021.4:c.1908G>C, XM_011542021.3:c.1908G>C, XM_011542021.2:c.1908G>C, XM_011542021.1:c.1908G>C, XM_047428769.1:c.1908G>C

Select item 14833730256.

rs1483373025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:27101242 (GRCh38)
1:27427733 (GRCh37)
Canonical SPDI:: NC_000001.11:27101241:G:A,NC_000001.11:27101241:G:T
Gene:: SLC9A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.27101242G>A, NC_000001.11:g.27101242G>T, NC_000001.10:g.27427733G>A, NC_000001.10:g.27427733G>T, NG_030006.1:g.58719C>T, NG_030006.1:g.58719C>A, NM_003047.5:c.2071C>T, NM_003047.5:c.2071C>A, NM_003047.4:c.2071C>T, NM_003047.4:c.2071C>A, NR_046474.2:n.2401C>T, NR_046474.2:n.2401C>A, NR_046474.1:n.2406C>T, NR_046474.1:n.2406C>A, XM_011542021.4:c.1741C>T, XM_011542021.4:c.1741C>A, XM_011542021.3:c.1741C>T, XM_011542021.3:c.1741C>A, XM_011542021.2:c.1741C>T, XM_011542021.2:c.1741C>A, XM_011542021.1:c.1741C>T, XM_011542021.1:c.1741C>A, XM_047428769.1:c.1741C>T, XM_047428769.1:c.1741C>A, NP_003038.2:p.Leu691Met, XP_011540323.1:p.Leu581Met, XP_047284725.1:p.Leu581Met

Select item 14833076117.

rs1483307611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27102079 (GRCh38)
1:27428570 (GRCh37)
Canonical SPDI:: NC_000001.11:27102078:G:A
Gene:: SLC9A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.27102079G>A, NC_000001.10:g.27428570G>A, NG_030006.1:g.57882C>T, NM_003047.5:c.1872C>T, NM_003047.4:c.1872C>T, NR_046474.2:n.2202C>T, NR_046474.1:n.2207C>T, XM_011542021.4:c.1542C>T, XM_011542021.3:c.1542C>T, XM_011542021.2:c.1542C>T, XM_011542021.1:c.1542C>T, XM_047428769.1:c.1542C>T

Select item 14829028698.

rs1482902869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:27109660 (GRCh38)
1:27436151 (GRCh37)
Canonical SPDI:: NC_000001.11:27109659:C:A
Gene:: SLC9A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.27109660C>A, NC_000001.10:g.27436151C>A, NG_030006.1:g.50301G>T, NM_003047.5:c.931G>T, NM_003047.4:c.931G>T, NR_046474.2:n.1261G>T, NR_046474.1:n.1266G>T, XM_011542021.4:c.601G>T, XM_011542021.3:c.601G>T, XM_011542021.2:c.601G>T, XM_011542021.1:c.601G>T, XM_047428769.1:c.601G>T, NP_003038.2:p.Val311Phe, XP_011540323.1:p.Val201Phe, XP_047284725.1:p.Val201Phe

Select item 14807769919.

rs1480776991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27100460 (GRCh38)
1:27426951 (GRCh37)
Canonical SPDI:: NC_000001.11:27100459:C:T
Gene:: SLC9A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.27100460C>T, NC_000001.10:g.27426951C>T, NG_030006.1:g.59501G>A, NM_003047.5:c.2295G>A, NM_003047.4:c.2295G>A, NR_046474.2:n.2625G>A, NR_046474.1:n.2630G>A, XM_011542021.4:c.1965G>A, XM_011542021.3:c.1965G>A, XM_011542021.2:c.1965G>A, XM_011542021.1:c.1965G>A, XM_047428769.1:c.1965G>A

Select item 147990199610.

rs1479901996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27113841 (GRCh38)
1:27440332 (GRCh37)
Canonical SPDI:: NC_000001.11:27113840:A:G
Gene:: SLC9A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000001.11:g.27113841A>G, NC_000001.10:g.27440332A>G, NG_030006.1:g.46120T>C, NM_003047.5:c.798T>C, NM_003047.4:c.798T>C, XM_011542021.4:c.468T>C, XM_011542021.3:c.468T>C, XM_011542021.2:c.468T>C, XM_011542021.1:c.468T>C, XM_047428769.1:c.468T>C

Select item 147982898511.

rs1479828985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27107693 (GRCh38)
1:27434184 (GRCh37)
Canonical SPDI:: NC_000001.11:27107692:A:G
Gene:: SLC9A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27107693A>G, NC_000001.10:g.27434184A>G, NG_030006.1:g.52268T>C, NM_003047.5:c.1237T>C, NM_003047.4:c.1237T>C, NR_046474.2:n.1567T>C, NR_046474.1:n.1572T>C, XM_011542021.4:c.907T>C, XM_011542021.3:c.907T>C, XM_011542021.2:c.907T>C, XM_011542021.1:c.907T>C, XM_047428769.1:c.907T>C, NP_003038.2:p.Phe413Leu, XP_011540323.1:p.Phe303Leu, XP_047284725.1:p.Phe303Leu

Select item 147890781712.

rs1478907817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27114279 (GRCh38)
1:27440770 (GRCh37)
Canonical SPDI:: NC_000001.11:27114278:A:G
Gene:: SLC9A1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.27114279A>G, NC_000001.10:g.27440770A>G, NG_030006.1:g.45682T>C, NM_003047.5:c.360T>C, NM_003047.4:c.360T>C, XM_011542021.4:c.30T>C, XM_011542021.3:c.30T>C, XM_011542021.2:c.30T>C, XM_011542021.1:c.30T>C, XM_047428769.1:c.30T>C

Select item 147801469313.

rs1478014693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27101755 (GRCh38)
1:27428246 (GRCh37)
Canonical SPDI:: NC_000001.11:27101754:C:T
Gene:: SLC9A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.27101755C>T, NC_000001.10:g.27428246C>T, NG_030006.1:g.58206G>A, NM_003047.5:c.2007G>A, NM_003047.4:c.2007G>A, NR_046474.2:n.2337G>A, NR_046474.1:n.2342G>A, XM_011542021.4:c.1677G>A, XM_011542021.3:c.1677G>A, XM_011542021.2:c.1677G>A, XM_011542021.1:c.1677G>A, XM_047428769.1:c.1677G>A

Select item 147782450014.

rs1477824500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:27100553 (GRCh38)
1:27427044 (GRCh37)
Canonical SPDI:: NC_000001.11:27100552:A:C
Gene:: SLC9A1 (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_000001.11:g.27100553A>C, NC_000001.10:g.27427044A>C, NG_030006.1:g.59408T>G, NM_003047.5:c.2202T>G, NM_003047.4:c.2202T>G, NR_046474.2:n.2532T>G, NR_046474.1:n.2537T>G, XM_011542021.4:c.1872T>G, XM_011542021.3:c.1872T>G, XM_011542021.2:c.1872T>G, XM_011542021.1:c.1872T>G, XM_047428769.1:c.1872T>G, NP_003038.2:p.Asn734Lys, XP_011540323.1:p.Asn624Lys, XP_047284725.1:p.Asn624Lys

Select item 147670590315.

rs1476705903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:27114129 (GRCh38)
1:27440620 (GRCh37)
Canonical SPDI:: NC_000001.11:27114128:G:C
Gene:: SLC9A1 (Varview)
Functional Consequence:: intron_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_000001.11:g.27114129G>C, NC_000001.10:g.27440620G>C, NG_030006.1:g.45832C>G, NM_003047.5:c.510C>G, NM_003047.4:c.510C>G, XM_011542021.4:c.180C>G, XM_011542021.3:c.180C>G, XM_011542021.2:c.180C>G, XM_011542021.1:c.180C>G, XM_047428769.1:c.180C>G, NP_003038.2:p.Ile170Met, XP_011540323.1:p.Ile60Met, XP_047284725.1:p.Ile60Met

Select item 147196012516.

rs1471960125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:27102528 (GRCh38)
1:27429019 (GRCh37)
Canonical SPDI:: NC_000001.11:27102527:C:A
Gene:: SLC9A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27102528C>A, NC_000001.10:g.27429019C>A, NG_030006.1:g.57433G>T, NM_003047.5:c.1677G>T, NM_003047.4:c.1677G>T, NR_046474.2:n.2007G>T, NR_046474.1:n.2012G>T, XM_011542021.4:c.1347G>T, XM_011542021.3:c.1347G>T, XM_011542021.2:c.1347G>T, XM_011542021.1:c.1347G>T, XM_047428769.1:c.1347G>T, NP_003038.2:p.Lys559Asn, XP_011540323.1:p.Lys449Asn, XP_047284725.1:p.Lys449Asn

Select item 147185751817.

rs1471857518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27101822 (GRCh38)
1:27428313 (GRCh37)
Canonical SPDI:: NC_000001.11:27101821:C:T
Gene:: SLC9A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.27101822C>T, NC_000001.10:g.27428313C>T, NG_030006.1:g.58139G>A, NM_003047.5:c.1940G>A, NM_003047.4:c.1940G>A, NR_046474.2:n.2270G>A, NR_046474.1:n.2275G>A, XM_011542021.4:c.1610G>A, XM_011542021.3:c.1610G>A, XM_011542021.2:c.1610G>A, XM_011542021.1:c.1610G>A, XM_047428769.1:c.1610G>A, NP_003038.2:p.Arg647Gln, XP_011540323.1:p.Arg537Gln, XP_047284725.1:p.Arg537Gln

Select item 147104200218.

rs1471042002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:27107796 (GRCh38)
1:27434287 (GRCh37)
Canonical SPDI:: NC_000001.11:27107795:G:A,NC_000001.11:27107795:G:C
Gene:: SLC9A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.27107796G>A, NC_000001.11:g.27107796G>C, NC_000001.10:g.27434287G>A, NC_000001.10:g.27434287G>C, NG_030006.1:g.52165C>T, NG_030006.1:g.52165C>G, NM_003047.5:c.1134C>T, NM_003047.5:c.1134C>G, NM_003047.4:c.1134C>T, NM_003047.4:c.1134C>G, NR_046474.2:n.1464C>T, NR_046474.2:n.1464C>G, NR_046474.1:n.1469C>T, NR_046474.1:n.1469C>G, XM_011542021.4:c.804C>T, XM_011542021.4:c.804C>G, XM_011542021.3:c.804C>T, XM_011542021.3:c.804C>G, XM_011542021.2:c.804C>T, XM_011542021.2:c.804C>G, XM_011542021.1:c.804C>T, XM_011542021.1:c.804C>G, XM_047428769.1:c.804C>T, XM_047428769.1:c.804C>G

Select item 146842252219.

rs1468422522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27113967 (GRCh38)
1:27440458 (GRCh37)
Canonical SPDI:: NC_000001.11:27113966:G:A
Gene:: SLC9A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.27113967G>A, NC_000001.10:g.27440458G>A, NG_030006.1:g.45994C>T, NM_003047.5:c.672C>T, NM_003047.4:c.672C>T, XM_011542021.4:c.342C>T, XM_011542021.3:c.342C>T, XM_011542021.2:c.342C>T, XM_011542021.1:c.342C>T, XM_047428769.1:c.342C>T

Select item 146825560220.

rs1468255602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:27100369 (GRCh38)
1:27426860 (GRCh37)
Canonical SPDI:: NC_000001.11:27100368:T:C
Gene:: SLC9A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000005/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.27100369T>C, NC_000001.10:g.27426860T>C, NG_030006.1:g.59592A>G, NM_003047.5:c.2386A>G, NM_003047.4:c.2386A>G, NR_046474.2:n.2716A>G, NR_046474.1:n.2721A>G, XM_011542021.4:c.2056A>G, XM_011542021.3:c.2056A>G, XM_011542021.2:c.2056A>G, XM_011542021.1:c.2056A>G, XM_047428769.1:c.2056A>G, NP_003038.2:p.Ser796Gly, XP_011540323.1:p.Ser686Gly, XP_047284725.1:p.Ser686Gly

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