SNP Links for Protein (Select 1034616741) - SNP

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Links from Protein

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Select item 14909188011.

rs1490918801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:44743654 (GRCh38)
2:44970793 (GRCh37)
Canonical SPDI:: NC_000002.12:44743653:C:G
Gene:: CAMKMT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.44743654C>G, NC_000002.11:g.44970793C>G, NG_032944.1:g.386751C>G, NM_024766.5:c.656C>G, NM_024766.4:c.656C>G, XM_017004982.3:c.284C>G, XM_017004982.2:c.284C>G, XM_017004982.1:c.284C>G, XM_011533111.3:c.656C>G, XM_011533111.2:c.656C>G, XM_011533111.1:c.656C>G, XM_011533113.3:c.188C>G, XM_011533113.2:c.188C>G, XM_011533113.1:c.188C>G, XR_939723.2:n.805C>G, XR_939723.1:n.814C>G, XM_047445878.1:c.470C>G, XM_047445881.1:c.188C>G, XM_047445880.1:c.188C>G, XR_007081736.1:n.906C>G, NP_079042.1:p.Ser219Cys, XP_016860471.1:p.Ser95Cys, XP_011531413.1:p.Ser219Cys, XP_011531415.1:p.Ser63Cys, XP_047301834.1:p.Ser157Cys, XP_047301837.1:p.Ser63Cys, XP_047301836.1:p.Ser63Cys

Select item 14824883412.

rs1482488341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:44715322 (GRCh38)
2:44942461 (GRCh37)
Canonical SPDI:: NC_000002.12:44715321:G:A
Gene:: CAMKMT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.44715322G>A, NC_000002.11:g.44942461G>A, NG_032944.1:g.358419G>A, NM_024766.5:c.592G>A, NM_024766.4:c.592G>A, XM_017004982.3:c.220G>A, XM_017004982.2:c.220G>A, XM_017004982.1:c.220G>A, XM_011533111.3:c.592G>A, XM_011533111.2:c.592G>A, XM_011533111.1:c.592G>A, XM_011533113.3:c.124G>A, XM_011533113.2:c.124G>A, XM_011533113.1:c.124G>A, XR_939722.3:n.653G>A, XR_939722.2:n.662G>A, XR_939722.1:n.662G>A, XR_939723.2:n.653G>A, XR_939723.1:n.662G>A, XM_047445881.1:c.124G>A, XM_047445880.1:c.124G>A, XR_007081736.1:n.653G>A, XM_047445879.1:c.*63G>A, NP_079042.1:p.Gly198Ser, XP_016860471.1:p.Gly74Ser, XP_011531413.1:p.Gly198Ser, XP_011531415.1:p.Gly42Ser, XP_047301837.1:p.Gly42Ser, XP_047301836.1:p.Gly42Ser

Select item 14786294983.

rs1478629498 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:44715340 (GRCh38)
2:44942479 (GRCh37)
Canonical SPDI:: NC_000002.12:44715339:AAAA:AAA
Gene:: CAMKMT (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.44715343del, NC_000002.11:g.44942482del, NG_032944.1:g.358440del, NM_024766.5:c.613del, NM_024766.4:c.613del, XM_017004982.3:c.241del, XM_017004982.2:c.241del, XM_017004982.1:c.241del, XM_011533111.3:c.613del, XM_011533111.2:c.613del, XM_011533111.1:c.613del, XM_011533113.3:c.145del, XM_011533113.2:c.145del, XM_011533113.1:c.145del, XR_939722.3:n.674del, XR_939722.2:n.683del, XR_939722.1:n.683del, XR_939723.2:n.674del, XR_939723.1:n.683del, XM_047445881.1:c.145del, XM_047445880.1:c.145del, XR_007081736.1:n.674del, XM_047445879.1:c.*84del, NP_079042.1:p.Ile205fs, XP_016860471.1:p.Ile81fs, XP_011531413.1:p.Ile205fs, XP_011531415.1:p.Ile49fs, XP_047301837.1:p.Ile49fs, XP_047301836.1:p.Ile49fs

Select item 14683987824.

rs1468398782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:44754091 (GRCh38)
2:44981230 (GRCh37)
Canonical SPDI:: NC_000002.12:44754090:T:C,NC_000002.12:44754090:T:G
Gene:: CAMKMT (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.44754091T>C, NC_000002.12:g.44754091T>G, NC_000002.11:g.44981230T>C, NC_000002.11:g.44981230T>G, NG_032944.1:g.397188T>C, NG_032944.1:g.397188T>G, NM_024766.5:c.735T>C, NM_024766.5:c.735T>G, NM_024766.4:c.735T>C, NM_024766.4:c.735T>G, XM_017004982.3:c.363T>C, XM_017004982.3:c.363T>G, XM_017004982.2:c.363T>C, XM_017004982.2:c.363T>G, XM_017004982.1:c.363T>C, XM_017004982.1:c.363T>G, XM_011533113.3:c.267T>C, XM_011533113.3:c.267T>G, XM_011533113.2:c.267T>C, XM_011533113.2:c.267T>G, XM_011533113.1:c.267T>C, XM_011533113.1:c.267T>G, XM_047445878.1:c.549T>C, XM_047445878.1:c.549T>G, XM_047445881.1:c.267T>C, XM_047445881.1:c.267T>G, XM_047445880.1:c.267T>C, XM_047445880.1:c.267T>G, NP_079042.1:p.Asp245Glu, XP_016860471.1:p.Asp121Glu, XP_011531415.1:p.Asp89Glu, XP_047301834.1:p.Asp183Glu, XP_047301837.1:p.Asp89Glu, XP_047301836.1:p.Asp89Glu

Select item 14603486255.

rs1460348625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:44715314 (GRCh38)
2:44942453 (GRCh37)
Canonical SPDI:: NC_000002.12:44715313:A:G
Gene:: CAMKMT (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.44715314A>G, NC_000002.11:g.44942453A>G, NG_032944.1:g.358411A>G, NM_024766.5:c.584A>G, NM_024766.4:c.584A>G, XM_017004982.3:c.212A>G, XM_017004982.2:c.212A>G, XM_017004982.1:c.212A>G, XM_011533111.3:c.584A>G, XM_011533111.2:c.584A>G, XM_011533111.1:c.584A>G, XM_011533113.3:c.116A>G, XM_011533113.2:c.116A>G, XM_011533113.1:c.116A>G, XR_939722.3:n.645A>G, XR_939722.2:n.654A>G, XR_939722.1:n.654A>G, XR_939723.2:n.645A>G, XR_939723.1:n.654A>G, XM_047445881.1:c.116A>G, XM_047445880.1:c.116A>G, XR_007081736.1:n.645A>G, XM_047445879.1:c.*55A>G, NP_079042.1:p.Gln195Arg, XP_016860471.1:p.Gln71Arg, XP_011531413.1:p.Gln195Arg, XP_011531415.1:p.Gln39Arg, XP_047301837.1:p.Gln39Arg, XP_047301836.1:p.Gln39Arg

Select item 14593498306.

rs1459349830 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTT [Show Flanks]
Chromosome:: 2:44707403 (GRCh38)
2:44934543 (GRCh37)
Canonical SPDI:: NC_000002.12:44707403:T:TTTTTTT
Gene:: CAMKMT (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,inframe_insertion,intron_variant
HGVS:: NC_000002.12:g.44707404_44707405insTTTTTT, NC_000002.11:g.44934543_44934544insTTTTTT, NG_032944.1:g.350501_350502insTTTTTT, NM_024766.5:c.498_499insTTTTTT, NM_024766.4:c.498_499insTTTTTT, XM_017004982.3:c.126_127insTTTTTT, XM_017004982.2:c.126_127insTTTTTT, XM_017004982.1:c.126_127insTTTTTT, XM_011533111.3:c.498_499insTTTTTT, XM_011533111.2:c.498_499insTTTTTT, XM_011533111.1:c.498_499insTTTTTT, XM_011533113.3:c.30_31insTTTTTT, XM_011533113.2:c.30_31insTTTTTT, XM_011533113.1:c.30_31insTTTTTT, XR_939722.3:n.559_560insTTTTTT, XR_939722.2:n.568_569insTTTTTT, XR_939722.1:n.568_569insTTTTTT, XR_939723.2:n.559_560insTTTTTT, XR_939723.1:n.568_569insTTTTTT, XM_047445881.1:c.30_31insTTTTTT, XM_047445880.1:c.30_31insTTTTTT, XR_007081736.1:n.559_560insTTTTTT, XM_047445879.1:c.443_444insTTTTTT, NP_079042.1:p.Ile167_Ser168insPhePhe, XP_016860471.1:p.Ile43_Ser44insPhePhe, XP_011531413.1:p.Ile167_Ser168insPhePhe, XP_011531415.1:p.Ile11_Ser12insPhePhe, XP_047301837.1:p.Ile11_Ser12insPhePhe, XP_047301836.1:p.Ile11_Ser12insPhePhe, XP_047301835.1:p.Phe149_Leu150dup

Select item 14539257837.

rs1453925783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:44706311 (GRCh38)
2:44933450 (GRCh37)
Canonical SPDI:: NC_000002.12:44706310:G:A,NC_000002.12:44706310:G:T
Gene:: CAMKMT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_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.44706311G>A, NC_000002.12:g.44706311G>T, NC_000002.11:g.44933450G>A, NC_000002.11:g.44933450G>T, NG_032944.1:g.349408G>A, NG_032944.1:g.349408G>T, NM_024766.5:c.462G>A, NM_024766.5:c.462G>T, NM_024766.4:c.462G>A, NM_024766.4:c.462G>T, XM_017004982.3:c.90G>A, XM_017004982.3:c.90G>T, XM_017004982.2:c.90G>A, XM_017004982.2:c.90G>T, XM_017004982.1:c.90G>A, XM_017004982.1:c.90G>T, XM_011533111.3:c.462G>A, XM_011533111.3:c.462G>T, XM_011533111.2:c.462G>A, XM_011533111.2:c.462G>T, XM_011533111.1:c.462G>A, XM_011533111.1:c.462G>T, XM_011533113.3:c.-7G>A, XM_011533113.3:c.-7G>T, XM_011533113.2:c.-7G>A, XM_011533113.2:c.-7G>T, XM_011533113.1:c.-7G>A, XM_011533113.1:c.-7G>T, XR_939722.3:n.523G>A, XR_939722.3:n.523G>T, XR_939722.2:n.532G>A, XR_939722.2:n.532G>T, XR_939722.1:n.532G>A, XR_939722.1:n.532G>T, XR_939723.2:n.523G>A, XR_939723.2:n.523G>T, XR_939723.1:n.532G>A, XR_939723.1:n.532G>T, XM_047445881.1:c.-7G>A, XM_047445881.1:c.-7G>T, XM_047445880.1:c.-7G>A, XM_047445880.1:c.-7G>T, XR_007081736.1:n.523G>A, XR_007081736.1:n.523G>T

Select item 14508092808.

rs1450809280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:44706290 (GRCh38)
2:44933429 (GRCh37)
Canonical SPDI:: NC_000002.12:44706289:C:A,NC_000002.12:44706289:C:G,NC_000002.12:44706289:C:T
Gene:: CAMKMT (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.44706290C>A, NC_000002.12:g.44706290C>G, NC_000002.12:g.44706290C>T, NC_000002.11:g.44933429C>A, NC_000002.11:g.44933429C>G, NC_000002.11:g.44933429C>T, NG_032944.1:g.349387C>A, NG_032944.1:g.349387C>G, NG_032944.1:g.349387C>T, NM_024766.5:c.441C>A, NM_024766.5:c.441C>G, NM_024766.5:c.441C>T, NM_024766.4:c.441C>A, NM_024766.4:c.441C>G, NM_024766.4:c.441C>T, XM_017004982.3:c.69C>A, XM_017004982.3:c.69C>G, XM_017004982.3:c.69C>T, XM_017004982.2:c.69C>A, XM_017004982.2:c.69C>G, XM_017004982.2:c.69C>T, XM_017004982.1:c.69C>A, XM_017004982.1:c.69C>G, XM_017004982.1:c.69C>T, XM_011533111.3:c.441C>A, XM_011533111.3:c.441C>G, XM_011533111.3:c.441C>T, XM_011533111.2:c.441C>A, XM_011533111.2:c.441C>G, XM_011533111.2:c.441C>T, XM_011533111.1:c.441C>A, XM_011533111.1:c.441C>G, XM_011533111.1:c.441C>T, XM_011533113.3:c.-28C>A, XM_011533113.3:c.-28C>G, XM_011533113.3:c.-28C>T, XM_011533113.2:c.-28C>A, XM_011533113.2:c.-28C>G, XM_011533113.2:c.-28C>T, XM_011533113.1:c.-28C>A, XM_011533113.1:c.-28C>G, XM_011533113.1:c.-28C>T, XR_939722.3:n.502C>A, XR_939722.3:n.502C>G, XR_939722.3:n.502C>T, XR_939722.2:n.511C>A, XR_939722.2:n.511C>G, XR_939722.2:n.511C>T, XR_939722.1:n.511C>A, XR_939722.1:n.511C>G, XR_939722.1:n.511C>T, XR_939723.2:n.502C>A, XR_939723.2:n.502C>G, XR_939723.2:n.502C>T, XR_939723.1:n.511C>A, XR_939723.1:n.511C>G, XR_939723.1:n.511C>T, XM_047445881.1:c.-28C>A, XM_047445881.1:c.-28C>G, XM_047445881.1:c.-28C>T, XM_047445880.1:c.-28C>A, XM_047445880.1:c.-28C>G, XM_047445880.1:c.-28C>T, XR_007081736.1:n.502C>A, XR_007081736.1:n.502C>G, XR_007081736.1:n.502C>T

Select item 14497949319.

rs1449794931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:44707453 (GRCh38)
2:44934592 (GRCh37)
Canonical SPDI:: NC_000002.12:44707452:G:A,NC_000002.12:44707452:G:T
Gene:: CAMKMT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.44707453G>A, NC_000002.12:g.44707453G>T, NC_000002.11:g.44934592G>A, NC_000002.11:g.44934592G>T, NG_032944.1:g.350550G>A, NG_032944.1:g.350550G>T, NM_024766.5:c.547G>A, NM_024766.5:c.547G>T, NM_024766.4:c.547G>A, NM_024766.4:c.547G>T, XM_017004982.3:c.175G>A, XM_017004982.3:c.175G>T, XM_017004982.2:c.175G>A, XM_017004982.2:c.175G>T, XM_017004982.1:c.175G>A, XM_017004982.1:c.175G>T, XM_011533111.3:c.547G>A, XM_011533111.3:c.547G>T, XM_011533111.2:c.547G>A, XM_011533111.2:c.547G>T, XM_011533111.1:c.547G>A, XM_011533111.1:c.547G>T, XM_011533113.3:c.79G>A, XM_011533113.3:c.79G>T, XM_011533113.2:c.79G>A, XM_011533113.2:c.79G>T, XM_011533113.1:c.79G>A, XM_011533113.1:c.79G>T, XR_939722.3:n.608G>A, XR_939722.3:n.608G>T, XR_939722.2:n.617G>A, XR_939722.2:n.617G>T, XR_939722.1:n.617G>A, XR_939722.1:n.617G>T, XR_939723.2:n.608G>A, XR_939723.2:n.608G>T, XR_939723.1:n.617G>A, XR_939723.1:n.617G>T, XM_047445881.1:c.79G>A, XM_047445881.1:c.79G>T, XM_047445880.1:c.79G>A, XM_047445880.1:c.79G>T, XR_007081736.1:n.608G>A, XR_007081736.1:n.608G>T, XM_047445879.1:c.*18G>A, XM_047445879.1:c.*18G>T, NP_079042.1:p.Ala183Thr, NP_079042.1:p.Ala183Ser, XP_016860471.1:p.Ala59Thr, XP_016860471.1:p.Ala59Ser, XP_011531413.1:p.Ala183Thr, XP_011531413.1:p.Ala183Ser, XP_011531415.1:p.Ala27Thr, XP_011531415.1:p.Ala27Ser, XP_047301837.1:p.Ala27Thr, XP_047301837.1:p.Ala27Ser, XP_047301836.1:p.Ala27Thr, XP_047301836.1:p.Ala27Ser

Select item 143659560410.

rs1436595604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:44704316 (GRCh38)
2:44931455 (GRCh37)
Canonical SPDI:: NC_000002.12:44704315:A:G
Gene:: CAMKMT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_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_000002.12:g.44704316A>G, NC_000002.11:g.44931455A>G, NG_032944.1:g.347413A>G, NM_024766.5:c.410A>G, NM_024766.4:c.410A>G, XM_017004982.3:c.38A>G, XM_017004982.2:c.38A>G, XM_017004982.1:c.38A>G, XM_011533111.3:c.410A>G, XM_011533111.2:c.410A>G, XM_011533111.1:c.410A>G, XM_011533113.3:c.-59A>G, XM_011533113.2:c.-59A>G, XM_011533113.1:c.-59A>G, XR_939722.3:n.471A>G, XR_939722.2:n.480A>G, XR_939722.1:n.480A>G, XR_939723.2:n.471A>G, XR_939723.1:n.480A>G, XM_047445878.1:c.410A>G, XM_047445880.1:c.-59A>G, XR_007081736.1:n.471A>G, XM_047445879.1:c.410A>G, NP_079042.1:p.Tyr137Cys, XP_016860471.1:p.Tyr13Cys, XP_011531413.1:p.Tyr137Cys, XP_047301834.1:p.Tyr137Cys, XP_047301835.1:p.Tyr137Cys

Select item 143211435211.

rs1432114352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:44766538 (GRCh38)
2:44993677 (GRCh37)
Canonical SPDI:: NC_000002.12:44766537:C:T
Gene:: CAMKMT (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000002.12:g.44766538C>T, NC_000002.11:g.44993677C>T, NG_032944.1:g.409635C>T, NM_024766.5:c.871C>T, NM_024766.4:c.871C>T, XM_017004982.3:c.499C>T, XM_017004982.2:c.499C>T, XM_017004982.1:c.499C>T, XM_011533113.3:c.403C>T, XM_011533113.2:c.403C>T, XM_011533113.1:c.403C>T, XM_047445878.1:c.685C>T, XM_047445881.1:c.403C>T, XM_047445880.1:c.403C>T, NP_079042.1:p.His291Tyr, XP_016860471.1:p.His167Tyr, XP_011531415.1:p.His135Tyr, XP_047301834.1:p.His229Tyr, XP_047301837.1:p.His135Tyr, XP_047301836.1:p.His135Tyr

Select item 142290319812.

rs1422903198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:44766530 (GRCh38)
2:44993669 (GRCh37)
Canonical SPDI:: NC_000002.12:44766529:A:G,NC_000002.12:44766529:A:T
Gene:: CAMKMT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.44766530A>G, NC_000002.12:g.44766530A>T, NC_000002.11:g.44993669A>G, NC_000002.11:g.44993669A>T, NG_032944.1:g.409627A>G, NG_032944.1:g.409627A>T, NM_024766.5:c.863A>G, NM_024766.5:c.863A>T, NM_024766.4:c.863A>G, NM_024766.4:c.863A>T, XM_017004982.3:c.491A>G, XM_017004982.3:c.491A>T, XM_017004982.2:c.491A>G, XM_017004982.2:c.491A>T, XM_017004982.1:c.491A>G, XM_017004982.1:c.491A>T, XM_011533113.3:c.395A>G, XM_011533113.3:c.395A>T, XM_011533113.2:c.395A>G, XM_011533113.2:c.395A>T, XM_011533113.1:c.395A>G, XM_011533113.1:c.395A>T, XM_047445878.1:c.677A>G, XM_047445878.1:c.677A>T, XM_047445881.1:c.395A>G, XM_047445881.1:c.395A>T, XM_047445880.1:c.395A>G, XM_047445880.1:c.395A>T, NP_079042.1:p.Tyr288Cys, NP_079042.1:p.Tyr288Phe, XP_016860471.1:p.Tyr164Cys, XP_016860471.1:p.Tyr164Phe, XP_011531415.1:p.Tyr132Cys, XP_011531415.1:p.Tyr132Phe, XP_047301834.1:p.Tyr226Cys, XP_047301834.1:p.Tyr226Phe, XP_047301837.1:p.Tyr132Cys, XP_047301837.1:p.Tyr132Phe, XP_047301836.1:p.Tyr132Cys, XP_047301836.1:p.Tyr132Phe

Select item 142029464013.

rs1420294640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:44766501 (GRCh38)
2:44993640 (GRCh37)
Canonical SPDI:: NC_000002.12:44766500:T:G
Gene:: CAMKMT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.44766501T>G, NC_000002.11:g.44993640T>G, NG_032944.1:g.409598T>G, NM_024766.5:c.834T>G, NM_024766.4:c.834T>G, XM_017004982.3:c.462T>G, XM_017004982.2:c.462T>G, XM_017004982.1:c.462T>G, XM_011533113.3:c.366T>G, XM_011533113.2:c.366T>G, XM_011533113.1:c.366T>G, XM_047445878.1:c.648T>G, XM_047445881.1:c.366T>G, XM_047445880.1:c.366T>G

Select item 141372103314.

rs1413721033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:44706291 (GRCh38)
2:44933430 (GRCh37)
Canonical SPDI:: NC_000002.12:44706290:C:T
Gene:: CAMKMT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.44706291C>T, NC_000002.11:g.44933430C>T, NG_032944.1:g.349388C>T, NM_024766.5:c.442C>T, NM_024766.4:c.442C>T, XM_017004982.3:c.70C>T, XM_017004982.2:c.70C>T, XM_017004982.1:c.70C>T, XM_011533111.3:c.442C>T, XM_011533111.2:c.442C>T, XM_011533111.1:c.442C>T, XM_011533113.3:c.-27C>T, XM_011533113.2:c.-27C>T, XM_011533113.1:c.-27C>T, XR_939722.3:n.503C>T, XR_939722.2:n.512C>T, XR_939722.1:n.512C>T, XR_939723.2:n.503C>T, XR_939723.1:n.512C>T, XM_047445881.1:c.-27C>T, XM_047445880.1:c.-27C>T, XR_007081736.1:n.503C>T, NP_079042.1:p.Leu148Phe, XP_016860471.1:p.Leu24Phe, XP_011531413.1:p.Leu148Phe

Select item 141038798315.

rs1410387983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:44707402 (GRCh38)
2:44934541 (GRCh37)
Canonical SPDI:: NC_000002.12:44707401:G:T
Gene:: CAMKMT (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0006/5 (ALFA)
HGVS:: NC_000002.12:g.44707402G>T, NC_000002.11:g.44934541G>T, NG_032944.1:g.350499G>T, NM_024766.5:c.496G>T, NM_024766.4:c.496G>T, XM_017004982.3:c.124G>T, XM_017004982.2:c.124G>T, XM_017004982.1:c.124G>T, XM_011533111.3:c.496G>T, XM_011533111.2:c.496G>T, XM_011533111.1:c.496G>T, XM_011533113.3:c.28G>T, XM_011533113.2:c.28G>T, XM_011533113.1:c.28G>T, XR_939722.3:n.557G>T, XR_939722.2:n.566G>T, XR_939722.1:n.566G>T, XR_939723.2:n.557G>T, XR_939723.1:n.566G>T, XM_047445881.1:c.28G>T, XM_047445880.1:c.28G>T, XR_007081736.1:n.557G>T, XM_047445879.1:c.441G>T, NP_079042.1:p.Ala166Ser, XP_016860471.1:p.Ala42Ser, XP_011531413.1:p.Ala166Ser, XP_011531415.1:p.Ala10Ser, XP_047301837.1:p.Ala10Ser, XP_047301836.1:p.Ala10Ser, XP_047301835.1:p.Leu147Phe

Select item 140902373716.

rs1409023737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:44766546 (GRCh38)
2:44993685 (GRCh37)
Canonical SPDI:: NC_000002.12:44766545:A:C
Gene:: CAMKMT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000002.12:g.44766546A>C, NC_000002.11:g.44993685A>C, NG_032944.1:g.409643A>C, NM_024766.5:c.879A>C, NM_024766.4:c.879A>C, XM_017004982.3:c.507A>C, XM_017004982.2:c.507A>C, XM_017004982.1:c.507A>C, XM_011533113.3:c.411A>C, XM_011533113.2:c.411A>C, XM_011533113.1:c.411A>C, XM_047445878.1:c.693A>C, XM_047445881.1:c.411A>C, XM_047445880.1:c.411A>C

Select item 140250533917.

rs1402505339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:44772071 (GRCh38)
2:44999210 (GRCh37)
Canonical SPDI:: NC_000002.12:44772070:C:G,NC_000002.12:44772070:C:T
Gene:: CAMKMT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.44772071C>G, NC_000002.12:g.44772071C>T, NC_000002.11:g.44999210C>G, NC_000002.11:g.44999210C>T, NG_032944.1:g.415168C>G, NG_032944.1:g.415168C>T, NM_024766.5:c.930C>G, NM_024766.5:c.930C>T, NM_024766.4:c.930C>G, NM_024766.4:c.930C>T, XM_017004982.3:c.558C>G, XM_017004982.3:c.558C>T, XM_017004982.2:c.558C>G, XM_017004982.2:c.558C>T, XM_017004982.1:c.558C>G, XM_017004982.1:c.558C>T, XM_011533113.3:c.462C>G, XM_011533113.3:c.462C>T, XM_011533113.2:c.462C>G, XM_011533113.2:c.462C>T, XM_011533113.1:c.462C>G, XM_011533113.1:c.462C>T, XM_047445878.1:c.744C>G, XM_047445878.1:c.744C>T, XM_047445881.1:c.462C>G, XM_047445881.1:c.462C>T, XM_047445880.1:c.462C>G, XM_047445880.1:c.462C>T, NP_079042.1:p.Asn310Lys, XP_016860471.1:p.Asn186Lys, XP_011531415.1:p.Asn154Lys, XP_047301834.1:p.Asn248Lys, XP_047301837.1:p.Asn154Lys, XP_047301836.1:p.Asn154Lys

Select item 138771957418.

rs1387719574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:44706289 (GRCh38)
2:44933428 (GRCh37)
Canonical SPDI:: NC_000002.12:44706288:C:A
Gene:: CAMKMT (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.44706289C>A, NC_000002.11:g.44933428C>A, NG_032944.1:g.349386C>A, NM_024766.5:c.440C>A, NM_024766.4:c.440C>A, XM_017004982.3:c.68C>A, XM_017004982.2:c.68C>A, XM_017004982.1:c.68C>A, XM_011533111.3:c.440C>A, XM_011533111.2:c.440C>A, XM_011533111.1:c.440C>A, XM_011533113.3:c.-29C>A, XM_011533113.2:c.-29C>A, XM_011533113.1:c.-29C>A, XR_939722.3:n.501C>A, XR_939722.2:n.510C>A, XR_939722.1:n.510C>A, XR_939723.2:n.501C>A, XR_939723.1:n.510C>A, XM_047445881.1:c.-29C>A, XM_047445880.1:c.-29C>A, XR_007081736.1:n.501C>A, NP_079042.1:p.Ala147Asp, XP_016860471.1:p.Ala23Asp, XP_011531413.1:p.Ala147Asp

Select item 138529095119.

rs1385290951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:44707449 (GRCh38)
2:44934588 (GRCh37)
Canonical SPDI:: NC_000002.12:44707448:A:G
Gene:: CAMKMT (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,3_prime_UTR_variant
HGVS:: NC_000002.12:g.44707449A>G, NC_000002.11:g.44934588A>G, NG_032944.1:g.350546A>G, NM_024766.5:c.543A>G, NM_024766.4:c.543A>G, XM_017004982.3:c.171A>G, XM_017004982.2:c.171A>G, XM_017004982.1:c.171A>G, XM_011533111.3:c.543A>G, XM_011533111.2:c.543A>G, XM_011533111.1:c.543A>G, XM_011533113.3:c.75A>G, XM_011533113.2:c.75A>G, XM_011533113.1:c.75A>G, XR_939722.3:n.604A>G, XR_939722.2:n.613A>G, XR_939722.1:n.613A>G, XR_939723.2:n.604A>G, XR_939723.1:n.613A>G, XM_047445881.1:c.75A>G, XM_047445880.1:c.75A>G, XR_007081736.1:n.604A>G, XM_047445879.1:c.*14A>G

Select item 137566676920.

rs1375666769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:44715352 (GRCh38)
2:44942491 (GRCh37)
Canonical SPDI:: NC_000002.12:44715351:T:A
Gene:: CAMKMT (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.44715352T>A, NC_000002.11:g.44942491T>A, NG_032944.1:g.358449T>A, NM_024766.5:c.622T>A, NM_024766.4:c.622T>A, XM_017004982.3:c.250T>A, XM_017004982.2:c.250T>A, XM_017004982.1:c.250T>A, XM_011533111.3:c.622T>A, XM_011533111.2:c.622T>A, XM_011533111.1:c.622T>A, XM_011533113.3:c.154T>A, XM_011533113.2:c.154T>A, XM_011533113.1:c.154T>A, XR_939722.3:n.683T>A, XR_939722.2:n.692T>A, XR_939722.1:n.692T>A, XR_939723.2:n.683T>A, XR_939723.1:n.692T>A, XM_047445881.1:c.154T>A, XM_047445880.1:c.154T>A, XR_007081736.1:n.683T>A, XM_047445879.1:c.*93T>A, NP_079042.1:p.Cys208Ser, XP_016860471.1:p.Cys84Ser, XP_011531413.1:p.Cys208Ser, XP_011531415.1:p.Cys52Ser, XP_047301837.1:p.Cys52Ser, XP_047301836.1:p.Cys52Ser

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