Product Details

SNP ID

rs201428369

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:79157604 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCGACAGGCTCGCACAGTGGCCG[A/G]GGCTTGAGATGGTGGAGGGATTTCT

Phenotype

MIM: 167805

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

REG3A PubMed Links

Gene Details

Gene

REG3A

Gene Name

regenerating family member 3 alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002580.2	489	Missense Mutation	CCC,CTC	P143L	NP_002571.1
NM_138937.2	489	Missense Mutation	CCC,CTC	P143L	NP_620354.1
NM_138938.2	489	Intron			NP_620355.1

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