Product Details

SNP ID

rs77757339

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:26123299 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGATCTCGGTTTTTCCCCAGTATT[C/T]AAGTGATATAATCCACCAGTTGACG

Phenotype

MIM: 606200 MIM: 601599

Polymorphism

C/T, Transition 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		Intron			NP_110389.1

Gene

SSPN

Gene Name

sarcospan

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

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