Product Details

SNP ID

rs144432807

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:21634079 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGCGGCCAGCCTGCAAGCCGGGC[C/T]GTGTGCCACACCCACCATCCACATG

Phenotype

MIM: 607551

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC116 PubMed Links

Gene Details

Gene

CCDC116

Gene Name

coiled-coil domain containing 116

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152612.2	442	Missense Mutation	CGT,TGT	R44C	NP_689825.2
XM_006724159.2	442	Missense Mutation	CGT,TGT	R110C	XP_006724222.1
XM_011529984.2	442	Missense Mutation	CGT,TGT	R9C	XP_011528286.1
XM_011529985.1	442	Missense Mutation	CGT,TGT	R110C	XP_011528287.1

Gene

SDF2L1

Gene Name

stromal cell derived factor 2 like 1

There are no transcripts associated with this gene.

Gene

YDJC

Gene Name

YdjC homolog (bacterial)

There are no transcripts associated with this gene.

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