Product Details

SNP ID

rs2231178

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100643425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATCCTCCAACAGGCCCCAACCAC[C/T]CCTTGGGTTCACATCCCTCTGAAGC

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		Intron			NP_057272.1

Gene

TFR2

Gene Name

transferrin receptor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206855.1		Intron			NP_001193784.1
NM_003227.3		Intron			NP_003218.2
XM_005250553.4		Intron			XP_005250610.1
XM_017012573.1		Intron			XP_016868062.1

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