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SNP ID: rs142105652
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:19146821 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCGCCCTTCCGTCGGCAGGTACAGT[G/T]GGGGTGGTGTCTTGCTGGTGAGGTG
Phenotype: MIM: 600661
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: BORCS8-MEF2B PubMed Links

Gene Details

Gene: BORCS8-MEF2B
Gene Name: BORCS8-MEF2B readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005919.3	1323	Missense Mutation	CAA,CCA	Q199P	NP_005910.1

Gene: MEF2B
Gene Name: myocyte enhancer factor 2B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145785.1	1323	Missense Mutation	CAA,CCA	Q199P	NP_001139257.1

Gene: TMEM161A
Gene Name: transmembrane protein 161A

There are no transcripts associated with this gene.

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