Product Details

SNP ID

rs201037401

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:154477770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCGCCTCCAGCCGCCCGGGGCTC[C/T]GCCCAGGCCTGGCGTCAGGACCATA

Phenotype

MIM: 602406

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HAND1 PubMed Links

Gene Details

Gene

HAND1

Gene Name

heart and neural crest derivatives expressed 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004821.2	440	Missense Mutation	CAG,CGG	Q80R	NP_004812.1
XM_005268531.1	440	Missense Mutation	CAG,CGG	Q80R	XP_005268588.1

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