Product Details

SNP ID
rs145039255
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:147935652 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCTCTGTGAATTTCCTGAAGTT[C/T]TTTCCATGGGCTTTATTAATTCTAA
Phenotype
MIM: 102581 MIM: 603056
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ACVR2A PubMed Links

Gene Details

Gene
ACVR2A
Gene Name
activin A receptor type 2A
There are no transcripts associated with this gene.

Gene
ORC4
Gene Name
origin recognition complex subunit 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190879.2 1448 Missense Mutation AAA,AGA K390R NP_001177808.1
NM_001190881.2 1448 Intron NP_001177810.1
NM_001190882.2 1448 Missense Mutation AAA,AGA K316R NP_001177811.1
NM_002552.4 1448 Missense Mutation AAA,AGA K390R NP_002543.2
NM_181741.3 1448 Missense Mutation AAA,AGA K390R NP_859525.1
NM_181742.3 1448 Intron NP_859526.1
XM_011511255.2 1448 Missense Mutation AAA,AGA K390R XP_011509557.1
XM_017004226.1 1448 Missense Mutation AAA,AGA K390R XP_016859715.1
XM_017004227.1 1448 Missense Mutation AAA,AGA K306R XP_016859716.1

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