Product Details

SNP ID

rs61739618

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:151286818 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGAGCCAGGGGACCACTCAGATC[C/T]GCTGCCTCCCTCTGCACCCTCTCCC

Phenotype

MIM: 602758 MIM: 610568

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC100507670 PubMed Links

Gene Details

Gene

LOC100507670

Gene Name

uncharacterized LOC100507670

There are no transcripts associated with this gene.

Gene

PI4KB

Gene Name

phosphatidylinositol 4-kinase beta

There are no transcripts associated with this gene.

Gene

ZNF687

Gene Name

zinc finger protein 687

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304763.1	829	Missense Mutation	CCG,CTG	P176L	NP_001291692.1
NM_001304764.1	829	Missense Mutation	CCG,CTG	P176L	NP_001291693.1
NM_020832.2	829	Missense Mutation	CCG,CTG	P176L	NP_065883.1
XM_005245366.3	829	Missense Mutation	CCG,CTG	P185L	XP_005245423.1
XM_011509811.2	829	Missense Mutation	CCG,CTG	P176L	XP_011508113.1
XM_011509812.2	829	Missense Mutation	CCG,CTG	P176L	XP_011508114.1
XM_011509813.2	829	Missense Mutation	CCG,CTG	P176L	XP_011508115.1

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