Product Details

SNP ID

rs147247705

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:45620363 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTCCACTGAGGGGCTCTTCTGTA[C/T]GAGGTGGGGGATCAGCAAAGCCAAC

Phenotype

MIM: 603185

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC17 PubMed Links

Gene Details

Gene

CCDC17

Gene Name

coiled-coil domain containing 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114938.2	2758	Missense Mutation	CAT,CGT	H594R	NP_001108410.2
NM_001190182.1	2758	Missense Mutation	CAT,CGT	H585R	NP_001177111.1
XM_011540812.1	2758	Missense Mutation	CAT,CGT	H650R	XP_011539114.1
XM_011540814.1	2758	Missense Mutation	CAT,CGT	H627R	XP_011539116.1
XM_011540820.1	2758	Intron			XP_011539122.1
XM_017000450.1	2758	Missense Mutation	CAT,CGT	H641R	XP_016855939.1
XM_017000451.1	2758	Missense Mutation	CAT,CGT	H618R	XP_016855940.1
XM_017000452.1	2758	Missense Mutation	CAT,CGT	H617R	XP_016855941.1
XM_017000453.1	2758	Missense Mutation	CAT,CGT	H614R	XP_016855942.1
XM_017000454.1	2758	Missense Mutation	CAT,CGT	H585R	XP_016855943.1
XM_017000455.1	2758	Missense Mutation	CAT,CGT	H438R	XP_016855944.1
XM_017000456.1	2758	Missense Mutation	CAT,CGT	H438R	XP_016855945.1
XM_017000457.1	2758	Intron			XP_016855946.1
XM_017000458.1	2758	Intron			XP_016855947.1

Gene

GPBP1L1

Gene Name

GC-rich promoter binding protein 1 like 1

There are no transcripts associated with this gene.

Gene

NASP

Gene Name

nuclear autoantigenic sperm protein

There are no transcripts associated with this gene.

View Full Product Details