Product Details

SNP ID

rs148006288

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:3442750 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTAGAACCGTACGGAGTCCCCA[C/G]AACCTAATGCCACAGCGACCCCTGC

Phenotype

MIM: 604552 MIM: 602512

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HGFAC PubMed Links

Gene Details

Gene

HGFAC

Gene Name

HGF activator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297439.1	205	Missense Mutation	CAA,GAA	Q46E	NP_001284368.1
NM_001528.3	205	Missense Mutation	CAA,GAA	Q46E	NP_001519.1

Gene

RGS12

Gene Name

regulator of G-protein signaling 12

There are no transcripts associated with this gene.

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