Product Details

SNP ID

rs111824386

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:108862701 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGCAGGAACTCAACAACACAAAC[A/G]TTCATCTCAAGCTGGTTAACCCTCT

Phenotype

MIM: 604303 MIM: 604304 MIM: 603722

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACTL7A PubMed Links

Gene Details

Gene

ACTL7A

Gene Name

actin like 7A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006687.3	474	Missense Mutation	ATT,GTT	I127V	NP_006678.1

Gene

ACTL7B

Gene Name

actin like 7B

There are no transcripts associated with this gene.

Gene

IKBKAP

Gene Name

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

There are no transcripts associated with this gene.

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