Product Details

SNP ID

rs146307784

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100646294 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCGATCCAGGGGCTGAACTTGCG[C/T]TCCATGGTGCTGTTGCTGGCAATGA

Phenotype

MIM: 612458 MIM: 604720

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACTL6B PubMed Links

Gene Details

Gene

ACTL6B

Gene Name

actin like 6B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016188.4	1262	Silent Mutation	GAA,GAG	E385E	NP_057272.1

Gene

TFR2

Gene Name

transferrin receptor 2

There are no transcripts associated with this gene.

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