Product Details

SNP ID

rs200429073

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7589432 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCAGCTTCCACTGCGCGCCCAGG[A/C]GCTTGGAGATCTCGGAGTTGTGCAT

Phenotype

MIM: 153634 MIM: 605339 MIM: 604041 MIM: 601297

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CD68 PubMed Links

Gene Details

Gene

CD68

Gene Name

CD68 molecule

There are no transcripts associated with this gene.

Gene

FXR2

Gene Name

FMR1 autosomal homolog 2

There are no transcripts associated with this gene.

Gene

LOC100996842

Gene Name

uncharacterized LOC100996842

There are no transcripts associated with this gene.

Gene

MPDU1

Gene Name

mannose-P-dolichol utilization defect 1

There are no transcripts associated with this gene.

Gene

SOX15

Gene Name

SRY-box 15

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006942.1	739	Missense Mutation	CGC,CTC	R82L	NP_008873.1

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