Product Details

SNP ID

rs185342793

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7589160 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCACTCACCCATAGCTGCCAGGCA[A/G]GTAGGCTGTCGAGTAGCTGGGGGGT

Phenotype

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

Polymorphism

A/G, Transition 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004870.3	1011	Intron			NP_004861.2
XM_006721597.2	1011	Intron			XP_006721660.1
XM_006721598.2	1011	Intron			XP_006721661.1
XM_006721599.2	1011	Intron			XP_006721662.1
XM_011524081.2	1011	Intron			XP_011522383.1

Gene

SOX15

Gene Name

SRY-box 15

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006942.1	1011	Silent Mutation	CTG,TTG	L173L	NP_008873.1

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