Product Details

SNP ID
rs116427412
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:157742754 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTTTGAAAAGCATGAAACGCCAG[C/T]AGCCTCTCAAATGTCCAGAAACAAG
Phenotype
MIM: 102576
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ACVR1 PubMed Links

Gene Details

Gene
ACVR1
Gene Name
activin A receptor type 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105.4 Intron NP_001096.1
NM_001111067.2 Intron NP_001104537.1
XM_005246939.3 Intron XP_005246996.1
XM_005246940.3 Intron XP_005246997.1
XM_006712825.3 Intron XP_006712888.1
XM_011512106.2 Intron XP_011510408.1
XM_011512107.2 Intron XP_011510409.1
XM_011512108.2 Intron XP_011510410.1

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