Product Details

SNP ID

rs199717685

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7426427 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTGCAACCACCAGCAGCGGCCG[C/G]AGAACTACAGACAAATCCCCCATAG

Phenotype

MIM: 606479 MIM: 615116 MIM: 613936

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C17orf74 PubMed Links

Gene Details

Gene

C17orf74

Gene Name

chromosome 17 open reading frame 74

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175734.4	509	Missense Mutation	CAG,GAG	Q146E	NP_783861.3
XM_006721471.3	509	Missense Mutation	CAG,GAG	Q49E	XP_006721534.1
XM_011523722.2	509	UTR 5			XP_011522024.1

Gene

LOC107983988

Gene Name

proteoglycan 4-like

There are no transcripts associated with this gene.

Gene

NLGN2

Gene Name

neuroligin 2

There are no transcripts associated with this gene.

Gene

SPEM1

Gene Name

spermatid maturation 1

There are no transcripts associated with this gene.

Gene

TMEM102

Gene Name

transmembrane protein 102

There are no transcripts associated with this gene.

View Full Product Details