SNP Links for Protein (Select 267844826) - SNP

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Links from Protein

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Select item 14905141181.

rs1490514118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:79986953 (GRCh38)
5:79282776 (GRCh37)
Canonical SPDI:: NC_000005.10:79986952:C:A,NC_000005.10:79986952:C:T
Gene:: MTX3 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
HGVS:: NC_000005.10:g.79986953C>A, NC_000005.10:g.79986953C>T, NC_000005.9:g.79282776C>A, NC_000005.9:g.79282776C>T, NG_047084.1:g.643C>A, NG_047084.1:g.643C>T, NM_001010891.5:c.736G>T, NM_001010891.5:c.736G>A, NM_001010891.4:c.736G>T, NM_001010891.4:c.736G>A, NM_001363818.2:c.736G>T, NM_001363818.2:c.736G>A, NM_001363818.1:c.736G>T, NM_001363818.1:c.736G>A, NM_001167741.2:c.553G>T, NM_001167741.2:c.553G>A, NM_001167741.1:c.553G>T, NM_001167741.1:c.553G>A, XM_017009440.2:c.553G>T, XM_017009440.2:c.553G>A, XM_017009440.1:c.553G>T, XM_017009440.1:c.553G>A, NP_001010891.4:p.Gly246Ter, NP_001010891.4:p.Gly246Arg, NP_001350747.1:p.Gly246Ter, NP_001350747.1:p.Gly246Arg, NP_001161213.1:p.Gly185Ter, NP_001161213.1:p.Gly185Arg, XP_016864929.1:p.Gly185Ter, XP_016864929.1:p.Gly185Arg

Select item 14903567792.

rs1490356779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:79988259 (GRCh38)
5:79284082 (GRCh37)
Canonical SPDI:: NC_000005.10:79988258:A:C
Gene:: MTX3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.79988259A>C, NC_000005.9:g.79284082A>C, NG_047084.1:g.1949A>C, NM_001010891.5:c.561T>G, NM_001010891.4:c.561T>G, NM_001363818.2:c.561T>G, NM_001363818.1:c.561T>G, NM_001167741.2:c.378T>G, NM_001167741.1:c.378T>G, XM_017009440.2:c.378T>G, XM_017009440.1:c.378T>G

Select item 14892903833.

rs1489290383 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:79987046 (GRCh38)
5:79282870 (GRCh37)
Canonical SPDI:: NC_000005.10:79987046:AAA:AAAA
Gene:: MTX3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.79987049dup, NC_000005.9:g.79282872dup, NG_047084.1:g.739dup, NM_001010891.5:c.642dup, NM_001010891.4:c.642dup, NM_001363818.2:c.642dup, NM_001363818.1:c.642dup, NM_001167741.2:c.459dup, NM_001167741.1:c.459dup, XM_017009440.2:c.459dup, XM_017009440.1:c.459dup, NP_001010891.4:p.Pro215fs, NP_001350747.1:p.Pro215fs, NP_001161213.1:p.Pro154fs, XP_016864929.1:p.Pro154fs

Select item 14829688584.

rs1482968858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:79991168 (GRCh38)
5:79286991 (GRCh37)
Canonical SPDI:: NC_000005.10:79991167:A:G
Gene:: THBS4 (Varview), MTX3 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.79991168A>G, NC_000005.9:g.79286991A>G, NG_047084.1:g.4858A>G, NM_001010891.5:c.71T>C, NM_001010891.4:c.71T>C, NM_001363818.2:c.71T>C, NM_001363818.1:c.71T>C, NM_001167741.2:c.-43T>C, NM_001167741.1:c.-43T>C, XM_017009440.2:c.-43T>C, XM_017009440.1:c.-43T>C, NP_001010891.4:p.Leu24Pro, NP_001350747.1:p.Leu24Pro

Select item 14774971385.

rs1477497138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:79986986 (GRCh38)
5:79282809 (GRCh37)
Canonical SPDI:: NC_000005.10:79986985:C:T
Gene:: MTX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.79986986C>T, NC_000005.9:g.79282809C>T, NG_047084.1:g.676C>T, NM_001010891.5:c.703G>A, NM_001010891.4:c.703G>A, NM_001363818.2:c.703G>A, NM_001363818.1:c.703G>A, NM_001167741.2:c.520G>A, NM_001167741.1:c.520G>A, XM_017009440.2:c.520G>A, XM_017009440.1:c.520G>A, NP_001010891.4:p.Asp235Asn, NP_001350747.1:p.Asp235Asn, NP_001161213.1:p.Asp174Asn, XP_016864929.1:p.Asp174Asn

Select item 14728839576.

rs1472883957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:79990197 (GRCh38)
5:79286020 (GRCh37)
Canonical SPDI:: NC_000005.10:79990196:G:A
Gene:: THBS4 (Varview), MTX3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000005.10:g.79990197G>A, NC_000005.9:g.79286020G>A, NG_047084.1:g.3887G>A, NM_001010891.5:c.191C>T, NM_001010891.4:c.191C>T, NM_001363818.2:c.191C>T, NM_001363818.1:c.191C>T, NM_001167741.2:c.8C>T, NM_001167741.1:c.8C>T, XM_017009440.2:c.8C>T, XM_017009440.1:c.8C>T, NP_001010891.4:p.Ser64Phe, NP_001350747.1:p.Ser64Phe, NP_001161213.1:p.Ser3Phe, XP_016864929.1:p.Ser3Phe

Select item 14727300597.

rs1472730059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:79990227 (GRCh38)
5:79286050 (GRCh37)
Canonical SPDI:: NC_000005.10:79990226:G:A
Gene:: THBS4 (Varview), MTX3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.79990227G>A, NC_000005.9:g.79286050G>A, NG_047084.1:g.3917G>A, NM_001010891.5:c.161C>T, NM_001010891.4:c.161C>T, NM_001363818.2:c.161C>T, NM_001363818.1:c.161C>T, NM_001167741.2:c.-23C>T, NM_001167741.1:c.-23C>T, XM_017009440.2:c.-23C>T, XM_017009440.1:c.-23C>T, NP_001010891.4:p.Pro54Leu, NP_001350747.1:p.Pro54Leu

Select item 14711884598.

rs1471188459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:79988526 (GRCh38)
5:79284349 (GRCh37)
Canonical SPDI:: NC_000005.10:79988525:A:C
Gene:: MTX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.79988526A>C, NC_000005.9:g.79284349A>C, NG_047084.1:g.2216A>C, NM_001010891.5:c.440T>G, NM_001010891.4:c.440T>G, NM_001363818.2:c.440T>G, NM_001363818.1:c.440T>G, NM_001167741.2:c.257T>G, NM_001167741.1:c.257T>G, XM_017009440.2:c.257T>G, XM_017009440.1:c.257T>G, NP_001010891.4:p.Leu147Arg, NP_001350747.1:p.Leu147Arg, NP_001161213.1:p.Leu86Arg, XP_016864929.1:p.Leu86Arg

Select item 14655785669.

rs1465578566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:79988491 (GRCh38)
5:79284314 (GRCh37)
Canonical SPDI:: NC_000005.10:79988490:G:A
Gene:: MTX3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.79988491G>A, NC_000005.9:g.79284314G>A, NG_047084.1:g.2181G>A, NM_001010891.5:c.475C>T, NM_001010891.4:c.475C>T, NM_001363818.2:c.475C>T, NM_001363818.1:c.475C>T, NM_001167741.2:c.292C>T, NM_001167741.1:c.292C>T, XM_017009440.2:c.292C>T, XM_017009440.1:c.292C>T, NP_001010891.4:p.Leu159Phe, NP_001350747.1:p.Leu159Phe, NP_001161213.1:p.Leu98Phe, XP_016864929.1:p.Leu98Phe

Select item 145865556510.

rs1458655565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:79988594 (GRCh38)
5:79284417 (GRCh37)
Canonical SPDI:: NC_000005.10:79988593:T:C
Gene:: MTX3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000009/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.79988594T>C, NC_000005.9:g.79284417T>C, NG_047084.1:g.2284T>C, NM_001010891.5:c.372A>G, NM_001010891.4:c.372A>G, NM_001363818.2:c.372A>G, NM_001363818.1:c.372A>G, NM_001167741.2:c.189A>G, NM_001167741.1:c.189A>G, XM_017009440.2:c.189A>G, XM_017009440.1:c.189A>G

Select item 145279860711.

rs1452798607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:79988530 (GRCh38)
5:79284353 (GRCh37)
Canonical SPDI:: NC_000005.10:79988529:C:T
Gene:: MTX3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.79988530C>T, NC_000005.9:g.79284353C>T, NG_047084.1:g.2220C>T, NM_001010891.5:c.436G>A, NM_001010891.4:c.436G>A, NM_001363818.2:c.436G>A, NM_001363818.1:c.436G>A, NM_001167741.2:c.253G>A, NM_001167741.1:c.253G>A, XM_017009440.2:c.253G>A, XM_017009440.1:c.253G>A, NP_001010891.4:p.Ala146Thr, NP_001350747.1:p.Ala146Thr, NP_001161213.1:p.Ala85Thr, XP_016864929.1:p.Ala85Thr

Select item 145146447512.

rs1451464475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:79989232 (GRCh38)
5:79285055 (GRCh37)
Canonical SPDI:: NC_000005.10:79989231:C:A
Gene:: MTX3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.79989232C>A, NC_000005.9:g.79285055C>A, NG_047084.1:g.2922C>A, NM_001010891.5:c.241G>T, NM_001010891.4:c.241G>T, NM_001363818.2:c.241G>T, NM_001363818.1:c.241G>T, NM_001167741.2:c.58G>T, NM_001167741.1:c.58G>T, XM_017009440.2:c.58G>T, XM_017009440.1:c.58G>T, NP_001010891.4:p.Asp81Tyr, NP_001350747.1:p.Asp81Tyr, NP_001161213.1:p.Asp20Tyr, XP_016864929.1:p.Asp20Tyr

Select item 145088933313.

rs1450889333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:79987089 (GRCh38)
5:79282912 (GRCh37)
Canonical SPDI:: NC_000005.10:79987088:G:A
Gene:: MTX3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.79987089G>A, NC_000005.9:g.79282912G>A, NG_047084.1:g.779G>A, NM_001010891.5:c.600C>T, NM_001010891.4:c.600C>T, NM_001363818.2:c.600C>T, NM_001363818.1:c.600C>T, NM_001167741.2:c.417C>T, NM_001167741.1:c.417C>T, XM_017009440.2:c.417C>T, XM_017009440.1:c.417C>T

Select item 145029034514.

rs1450290345 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTA>- [Show Flanks]
Chromosome:: 5:79990180 (GRCh38)
5:79286003 (GRCh37)
Canonical SPDI:: NC_000005.10:79990177:TAGTA:TA
Gene:: THBS4 (Varview), MTX3 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,inframe_deletion,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.79990180_79990182del, NC_000005.9:g.79286003_79286005del, NG_047084.1:g.3870_3872del, NM_001010891.5:c.208_210del, NM_001010891.4:c.208_210del, NM_001363818.2:c.208_210del, NM_001363818.1:c.208_210del, NM_001167741.2:c.25_27del, NM_001167741.1:c.25_27del, XM_017009440.2:c.25_27del, XM_017009440.1:c.25_27del, NP_001010891.4:p.Leu70del, NP_001350747.1:p.Leu70del, NP_001161213.1:p.Leu9del, XP_016864929.1:p.Leu9del

Select item 145021637315.

rs1450216373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:79990658 (GRCh38)
5:79286481 (GRCh37)
Canonical SPDI:: NC_000005.10:79990657:A:C
Gene:: THBS4 (Varview), MTX3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,stop_gained
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.79990658A>C, NC_000005.9:g.79286481A>C, NG_047084.1:g.4348A>C, NM_001010891.5:c.87T>G, NM_001010891.4:c.87T>G, NM_001363818.2:c.87T>G, NM_001363818.1:c.87T>G, NP_001010891.4:p.Tyr29Ter, NP_001350747.1:p.Tyr29Ter

Select item 144661400816.

rs1446614008 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:79987038 (GRCh38)
5:79282861 (GRCh37)
Canonical SPDI:: NC_000005.10:79987037:AA:
Gene:: MTX3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.79987038_79987039del, NC_000005.9:g.79282861_79282862del, NG_047084.1:g.728_729del, NM_001010891.5:c.650_651del, NM_001010891.4:c.650_651del, NM_001363818.2:c.650_651del, NM_001363818.1:c.650_651del, NM_001167741.2:c.467_468del, NM_001167741.1:c.467_468del, XM_017009440.2:c.467_468del, XM_017009440.1:c.467_468del, NP_001010891.4:p.Val217fs, NP_001350747.1:p.Val217fs, NP_001161213.1:p.Val156fs, XP_016864929.1:p.Val156fs

Select item 144412384817.

rs1444123848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:79988508 (GRCh38)
5:79284331 (GRCh37)
Canonical SPDI:: NC_000005.10:79988507:G:T
Gene:: MTX3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.79988508G>T, NC_000005.9:g.79284331G>T, NG_047084.1:g.2198G>T, NM_001010891.5:c.458C>A, NM_001010891.4:c.458C>A, NM_001363818.2:c.458C>A, NM_001363818.1:c.458C>A, NM_001167741.2:c.275C>A, NM_001167741.1:c.275C>A, XM_017009440.2:c.275C>A, XM_017009440.1:c.275C>A, NP_001010891.4:p.Thr153Asn, NP_001350747.1:p.Thr153Asn, NP_001161213.1:p.Thr92Asn, XP_016864929.1:p.Thr92Asn

Select item 144362972318.

rs1443629723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:79988270 (GRCh38)
5:79284093 (GRCh37)
Canonical SPDI:: NC_000005.10:79988269:A:G
Gene:: MTX3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.79988270A>G, NC_000005.9:g.79284093A>G, NG_047084.1:g.1960A>G, NM_001010891.5:c.550T>C, NM_001010891.4:c.550T>C, NM_001363818.2:c.550T>C, NM_001363818.1:c.550T>C, NM_001167741.2:c.367T>C, NM_001167741.1:c.367T>C, XM_017009440.2:c.367T>C, XM_017009440.1:c.367T>C

Select item 144272960919.

rs1442729609 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACT>- [Show Flanks]
Chromosome:: 5:79986971 (GRCh38)
5:79282794 (GRCh37)
Canonical SPDI:: NC_000005.10:79986969:TAACT:T
Gene:: MTX3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.79986971_79986974del, NC_000005.9:g.79282794_79282797del, NG_047084.1:g.661_664del, NM_001010891.5:c.716_719del, NM_001010891.4:c.716_719del, NM_001363818.2:c.716_719del, NM_001363818.1:c.716_719del, NM_001167741.2:c.533_536del, NM_001167741.1:c.533_536del, XM_017009440.2:c.533_536del, XM_017009440.1:c.533_536del, NP_001010891.4:p.Ser239fs, NP_001350747.1:p.Ser239fs, NP_001161213.1:p.Ser178fs, XP_016864929.1:p.Ser178fs

Select item 143769354220.

rs1437693542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:79989194 (GRCh38)
5:79285017 (GRCh37)
Canonical SPDI:: NC_000005.10:79989193:C:T
Gene:: MTX3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.79989194C>T, NC_000005.9:g.79285017C>T, NG_047084.1:g.2884C>T, NM_001010891.5:c.279G>A, NM_001010891.4:c.279G>A, NM_001363818.2:c.279G>A, NM_001363818.1:c.279G>A, NM_001167741.2:c.96G>A, NM_001167741.1:c.96G>A, XM_017009440.2:c.96G>A, XM_017009440.1:c.96G>A

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SNP Links for Protein (Select 267844826) (247)
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