Product Details

SNP ID

rs149454771

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68760252 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCAAAGCCCCCTCCGCTGGACAC[A/G]TACTCTGGGTTATTCTCCAAGTCAA

Phenotype

MIM: 600528 MIM: 604374

Polymorphism

A/G, Transition 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	2285	Silent Mutation	TAC,TAT	Y705Y	NP_001027017.1
NM_001876.3	2285	Silent Mutation	TAC,TAT	Y705Y	NP_001867.2
XM_005273762.2	2285	Silent Mutation	TAC,TAT	Y737Y	XP_005273819.1
XM_005273763.1	2285	Silent Mutation	TAC,TAT	Y737Y	XP_005273820.1
XM_017017220.1	2285	Silent Mutation	TAC,TAT	Y705Y	XP_016872709.1

Gene

TESMIN

Gene Name

testis expressed metallothionein like protein

There are no transcripts associated with this gene.

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