Product Details

SNP ID

rs201984942

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:154477497 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTTTCCGCTTGCTCTCACGGCCG[C/T]CATCCGCCTTCTTGAGTTCAGCCTT

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	713	Missense Mutation	GAC,GGC	D171G	NP_004812.1
XM_005268531.1	713	Missense Mutation	GAC,GGC	D171G	XP_005268588.1

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