Product Details

SNP ID

rs146978743

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:179396887 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAAATGAACAATGGAAAGAAAAC[C/T]AGTAAATCTGAAATGTACTTCACAT

Phenotype

MIM: 610863 MIM: 608506

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GNB4 PubMed Links

Gene Details

Gene

GNB4

Gene Name

G protein subunit beta 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021629.3	5629	UTR 3			NP_067642.1
XM_005247692.2	5629	Intron			XP_005247749.1
XM_006713721.2	5629	UTR 3			XP_006713784.1

Gene

MFN1

Gene Name

mitofusin 1

There are no transcripts associated with this gene.

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