Product Details

SNP ID

rs140063083

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:26122399 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCCGCCGGGTACAGATACTTCTC[C/G]AGGCCGCTCTTGTCCAGGAAGGGCT

Phenotype

MIM: 606200 MIM: 601599

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BHLHE41 PubMed Links

Gene Details

Gene

BHLHE41

Gene Name

basic helix-loop-helix family member e41

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030762.2	1407	Silent Mutation	CTC,CTG	L372L	NP_110389.1

Gene

SSPN

Gene Name

sarcospan

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135823.1	1407	Intron			NP_001129295.1
NM_005086.4	1407	Intron			NP_005077.2
XM_011520853.2	1407	Intron			XP_011519155.1
XM_011520854.2	1407	Intron			XP_011519156.1
XM_011520855.2	1407	Intron			XP_011519157.1

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