Product Details

SNP ID

rs112493967

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143791268 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACAGCGCCGGGTGAGGGCCTGCC[A/C]AGAAGCACCAGAGCCACTTCTCCAT

Phenotype

MIM: 607733

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

LOC642574 PubMed Links

Gene Details

Gene

LOC642574

Gene Name

IQ motif and ankyrin repeat domain-containing protein LOC642574

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_017014127.1	4870	Intron			XP_016869616.1

Gene

SCRIB

Gene Name

scribbled planar cell polarity protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015356.4	4870	Silent Mutation	CTG,CTT	L1596L	NP_056171.3
NM_182706.4	4870	Silent Mutation	CTG,CTT	L1621L	NP_874365.3

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