Product Details

SNP ID

rs148045088

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:45629622 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTTTGAGCTCATCCTCTGTGAGG[A/G]GAAGGCAATTCTCATCATTTTCAGG

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC17 PubMed Links

Gene Details

Gene

CCDC17

Gene Name

coiled-coil domain containing 17

There are no transcripts associated with this gene.

Gene

GPBP1L1

Gene Name

GC-rich promoter binding protein 1 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021639.4	2489	Missense Mutation	CCC,CTC	P409L	NP_067652.1
XM_017002019.1	2489	Missense Mutation	CCC,CTC	P356L	XP_016857508.1

View Full Product Details