Product Details

SNP ID

rs140755982

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:96391263 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCACTGTCCCTGGGCACAAATCAA[C/T]TGAAGAAAGAGTCACAATCATGTGT

Phenotype

MIM: 603211

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC82 PubMed Links

Gene Details

Gene

CCDC82

Gene Name

coiled-coil domain containing 82

There are no transcripts associated with this gene.

Gene

JRKL

Gene Name

JRK-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261833.1	1270	Missense Mutation	ACT,ATT	T205I	NP_001248762.1
NM_003772.3	1270	Missense Mutation	ACT,ATT	T205I	NP_003763.2

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