Product Details

SNP ID

rs148623746

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:45628296 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCATCTGATGTTTCACTGCTACTG[C/G]TTTCGGTGTCTGAGTCCTCAAACTC

Phenotype

MIM: 603185

Polymorphism

C/G, Transversion 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	2648	Missense Mutation	ACC,AGC	T462S	NP_067652.1
XM_017002019.1	2648	Missense Mutation	ACC,AGC	T409S	XP_016857508.1

Gene

NASP

Gene Name

nuclear autoantigenic sperm protein

There are no transcripts associated with this gene.

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