Product Details

SNP ID

rs141455728

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:97657449 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGGGAGTTTCTGTAACCTCACC[C/T]TGATTTTGATATCCTTTGGGGCAAG

Phenotype

MIM: 605144 MIM: 123866

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACTR1B PubMed Links

Gene Details

Gene

ACTR1B

Gene Name

ARP1 actin-related protein 1 homolog B, centractin beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005735.3	1248	Missense Mutation	AAG,AGG	K329R	NP_005726.1
XM_005263854.4	1248	Missense Mutation	AAG,AGG	K255R	XP_005263911.1
XM_017003116.1	1248	Missense Mutation	AAG,AGG	K285R	XP_016858605.1

Gene

COX5B

Gene Name

cytochrome c oxidase subunit 5B

There are no transcripts associated with this gene.

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