Product Details
- SNP ID
-
rs1061305
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:151490465 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- TCAGACTTCTCCTCACCCCCACTGA[C/T]GCTTAGTGCACTGGCAGATCGTGAC
- Phenotype
-
MIM: 161650
MIM: 608952
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
NEB
PubMed Links
Gene Details
- Gene
- NEB
- Gene Name
- nebulin
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001164507.1 |
25301 |
Missense Mutation |
ATC,GTC |
I8402V |
NP_001157979.1 |
NM_001164508.1 |
25301 |
Missense Mutation |
ATC,GTC |
I8402V |
NP_001157980.1 |
NM_001271208.1 |
25301 |
Missense Mutation |
ATC,GTC |
I8437V |
NP_001258137.1 |
NM_004543.4 |
25301 |
Missense Mutation |
ATC,GTC |
I6546V |
NP_004534.2 |
XM_005246590.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8371V |
XP_005246647.1 |
XM_005246591.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8371V |
XP_005246648.1 |
XM_005246592.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8371V |
XP_005246649.1 |
XM_005246593.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8371V |
XP_005246650.1 |
XM_005246594.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8371V |
XP_005246651.1 |
XM_005246596.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8340V |
XP_005246653.1 |
XM_005246597.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8340V |
XP_005246654.1 |
XM_005246598.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8340V |
XP_005246655.1 |
XM_005246599.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8309V |
XP_005246656.1 |
XM_005246600.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8309V |
XP_005246657.1 |
XM_005246601.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8278V |
XP_005246658.1 |
XM_005246602.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8278V |
XP_005246659.1 |
XM_005246603.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8247V |
XP_005246660.1 |
XM_005246604.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8247V |
XP_005246661.1 |
XM_005246606.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8247V |
XP_005246663.1 |
XM_005246608.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8216V |
XP_005246665.1 |
XM_005246610.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8185V |
XP_005246667.1 |
XM_005246611.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8185V |
XP_005246668.1 |
XM_005246612.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8159V |
XP_005246669.1 |
XM_005246613.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8159V |
XP_005246670.1 |
XM_005246615.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8154V |
XP_005246672.1 |
XM_005246616.1 |
25301 |
Intron |
|
|
XP_005246673.1 |
XM_005246617.2 |
25301 |
Missense Mutation |
ATC,GTC |
I7430V |
XP_005246674.1 |
XM_006712541.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8247V |
XP_006712604.1 |
XM_006712542.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8247V |
XP_006712605.1 |
XM_011511225.2 |
25301 |
Missense Mutation |
ATC,GTC |
I8154V |
XP_011509527.1 |
XM_011511226.2 |
25301 |
Missense Mutation |
ATC,GTC |
I7673V |
XP_011509528.1 |
XM_011511227.2 |
25301 |
Missense Mutation |
ATC,GTC |
I6944V |
XP_011509529.1 |
XM_017004177.1 |
25301 |
Missense Mutation |
ATC,GTC |
I8365V |
XP_016859666.1 |
XM_017004178.1 |
25301 |
Missense Mutation |
ATC,GTC |
I8340V |
XP_016859667.1 |
XM_017004179.1 |
25301 |
Missense Mutation |
ATC,GTC |
I8247V |
XP_016859668.1 |
XM_017004180.1 |
25301 |
Missense Mutation |
ATC,GTC |
I8247V |
XP_016859669.1 |
XM_017004181.1 |
25301 |
Missense Mutation |
ATC,GTC |
I8216V |
XP_016859670.1 |
XM_017004182.1 |
25301 |
Missense Mutation |
ATC,GTC |
I8185V |
XP_016859671.1 |
XM_017004183.1 |
25301 |
Missense Mutation |
ATC,GTC |
I8154V |
XP_016859672.1 |
XM_017004184.1 |
25301 |
Missense Mutation |
ATC,GTC |
I8154V |
XP_016859673.1 |
XM_017004185.1 |
25301 |
Missense Mutation |
ATC,GTC |
I8061V |
XP_016859674.1 |
- Gene
- RIF1
- Gene Name
- replication timing regulatory factor 1
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