Product Details

SNP ID

rs199498675

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7585749 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTCAGTCCCCTGCCTCAAGATT[C/G]TCCTCAGCAAAGGCCTGGGGCTGGG

Phenotype

MIM: 153634 MIM: 602641 MIM: 605339 MIM: 604041 MIM: 601297

Polymorphism

C/G, 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

EIF4A1

Gene Name

eukaryotic translation initiation factor 4A1

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004870.3	132	Missense Mutation	CTC,GTC	L41V	NP_004861.2
XM_006721597.2	132	Missense Mutation	CTC,GTC	L41V	XP_006721660.1
XM_006721598.2	132	Missense Mutation	CTC,GTC	L41V	XP_006721661.1
XM_006721599.2	132	Missense Mutation	CTC,GTC	L41V	XP_006721662.1
XM_011524081.2	132	UTR 5			XP_011522383.1

Gene

SENP3-EIF4A1

Gene Name

SENP3-EIF4A1 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

SNORA67

Gene Name

small nucleolar RNA, H/ACA box 67

There are no transcripts associated with this gene.

Gene

SNORD10

Gene Name

small nucleolar RNA, C/D box 10

There are no transcripts associated with this gene.

Gene

SOX15

Gene Name

SRY-box 15

There are no transcripts associated with this gene.

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