Product Details

SNP ID

rs199503638

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:173528905 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGAGAGTTTGGTGTCGGCGGGTA[A/C]GTTGGGGATGCACTCGCGCAGTTCG

Phenotype

MIM: 602407

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

HAND2 PubMed Links

Gene Details

Gene

HAND2

Gene Name

heart and neural crest derivatives expressed 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021973.2	1323	Missense Mutation	GTA,TTA	V129L	NP_068808.1

Gene

HAND2-AS1

Gene Name

HAND2 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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