Product Details

SNP ID

rs1045012

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.7:99386731 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ACCATGAGGTGCATATCTATGAAAA[C/G]AGCGGTGCCAAATGGACCAAGGTGC

Phenotype

MIM: 604223 MIM: 607075

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ARPC1B PubMed Links

Gene Details

Gene

ARPC1B

Gene Name

actin related protein 2/3 complex subunit 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005720.3	231	Missense Mutation	AAC,AAG	N37K	NP_005711.1
XM_006715825.1	231	Missense Mutation	AAC,AAG	N37K	XP_006715888.1
XM_006715826.1	231	Missense Mutation	AAC,AAG	N37K	XP_006715889.1

Gene

PDAP1

Gene Name

PDGFA associated protein 1

There are no transcripts associated with this gene.

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