Product Details

SNP ID

rs200307365

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68760329 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTTGTTGATAATCTCCAAGGCT[A/C]AGATAAAACCTATTGAGTGAAACAG

Phenotype

MIM: 600528 MIM: 604374

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CPT1A PubMed Links

Gene Details

Gene

CPT1A

Gene Name

carnitine palmitoyltransferase 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031847.2	2208	Nonsense Mutation	GAG,TAG	E680*	NP_001027017.1
NM_001876.3	2208	Nonsense Mutation	GAG,TAG	E680*	NP_001867.2
XM_005273762.2	2208	Nonsense Mutation	GAG,TAG	E712*	XP_005273819.1
XM_005273763.1	2208	Nonsense Mutation	GAG,TAG	E712*	XP_005273820.1
XM_017017220.1	2208	Nonsense Mutation	GAG,TAG	E680*	XP_016872709.1

Gene

TESMIN

Gene Name

testis expressed metallothionein like protein

There are no transcripts associated with this gene.

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