Product Details

SNP ID: rs137921742
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:100578535 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAAATAATGAAGAAAAACAAATTCC[A/G]CGTGGTAATATTCCAGGTAAGCTTG
Phenotype: MIM: 603421
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: MSANTD3-TMEFF1 PubMed Links

Gene Details

Gene: MSANTD3-TMEFF1
Gene Name: MSANTD3-TMEFF1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198812.1	457	Intron			NP_001185741.1

Gene: MURC
Gene Name: muscle related coiled-coil protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001018116.2	457	Missense Mutation	CAC,CGC	H131R	NP_001018126.1

Gene: TMEFF1
Gene Name: transmembrane protein with EGF like and two follistatin like domains 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003692.4	457	Intron			NP_003683.2

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