Product Details

SNP ID

rs147859973

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:6419333 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTGCCTTCTCTAGCTTCGAGCAG[C/T]TGGAGTTCTGCGCCCGGCCACGAGG

Phenotype

MIM: 606351 MIM: 609970

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ESPN PubMed Links

Gene Details

Gene

ESPN

Gene Name

espin

There are no transcripts associated with this gene.

Gene

HES2

Gene Name

hes family bHLH transcription factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019089.4	248	Missense Mutation	AAC,AGC	N50S	NP_061962.2

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