Product Details

SNP ID

rs3197129

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:69282944 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTATAGGATTTTTTTCTTTATTCT[C/T]GTTTGAAGCAGTGTCTTTGTCTTCC

Phenotype

MIM: 613781 MIM: 601955

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC125 PubMed Links

Gene Details

Gene

CCDC125

Gene Name

coiled-coil domain containing 125

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297696.1	1296	UTR 3			NP_001284625.1
NM_001297697.1	1296	Missense Mutation	AAG,GAG	K316E	NP_001284626.1
NM_176816.4	1296	Missense Mutation	AAG,GAG	K441E	NP_789786.2
XM_005248458.4	1296	Missense Mutation	AAG,GAG	K441E	XP_005248515.1
XM_005248459.4	1296	Missense Mutation	AAG,GAG	K440E	XP_005248516.1
XM_005248461.3	1296	Missense Mutation	AAG,GAG	K351E	XP_005248518.1
XM_005248463.3	1296	Missense Mutation	AAG,GAG	K316E	XP_005248520.1
XM_005248464.3	1296	UTR 3			XP_005248521.1
XM_006714569.3	1296	Missense Mutation	AAG,GAG	K436E	XP_006714632.1
XM_006714570.3	1296	Missense Mutation	AAG,GAG	K364E	XP_006714633.1
XM_011543255.2	1296	Missense Mutation	AAG,GAG	K441E	XP_011541557.1
XM_011543256.2	1296	Missense Mutation	AAG,GAG	K441E	XP_011541558.1
XM_011543257.2	1296	Missense Mutation	AAG,GAG	K405E	XP_011541559.1
XM_011543258.2	1296	Missense Mutation	AAG,GAG	K441E	XP_011541560.1
XM_011543259.2	1296	Missense Mutation	AAG,GAG	K441E	XP_011541561.1
XM_011543260.2	1296	Intron			XP_011541562.1
XM_017009206.1	1296	Missense Mutation	AAG,GAG	K440E	XP_016864695.1
XM_017009207.1	1296	Missense Mutation	AAG,GAG	K436E	XP_016864696.1
XM_017009208.1	1296	Missense Mutation	AAG,GAG	K368E	XP_016864697.1
XM_017009209.1	1296	UTR 3			XP_016864698.1
XM_017009210.1	1296	Missense Mutation	AAG,GAG	K215E	XP_016864699.1
XM_017009211.1	1296	Intron			XP_016864700.1

Gene

CDK7

Gene Name

cyclin dependent kinase 7

There are no transcripts associated with this gene.

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