Product Details

SNP ID

rs117534424

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:49310874 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATCAAGTAGTTCTTCTCGTCAGC[A/G]AACTGCTCATCATCCGTCCTTTCTT

Phenotype

MIM: 612175

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CAB39L PubMed Links

Gene Details

Gene

CAB39L

Gene Name

calcium binding protein 39 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079670.2	1882	Silent Mutation	TTC,TTT	F318F	NP_001073138.1
NM_001287337.1	1882	Silent Mutation	TTC,TTT	F318F	NP_001274266.1
NM_001287338.1	1882	Silent Mutation	TTC,TTT	F318F	NP_001274267.1
NM_001287339.1	1882	Silent Mutation	TTC,TTT	F318F	NP_001274268.1
NM_030925.3	1882	Silent Mutation	TTC,TTT	F318F	NP_112187.2
XM_011535254.2	1882	Silent Mutation	TTC,TTT	F318F	XP_011533556.1
XM_011535255.2	1882	Silent Mutation	TTC,TTT	F318F	XP_011533557.1
XM_011535256.2	1882	Silent Mutation	TTC,TTT	F318F	XP_011533558.1
XM_017020785.1	1882	Silent Mutation	TTC,TTT	F318F	XP_016876274.1
XM_017020786.1	1882	Silent Mutation	TTC,TTT	F318F	XP_016876275.1
XM_017020787.1	1882	Silent Mutation	TTC,TTT	F318F	XP_016876276.1
XM_017020788.1	1882	Silent Mutation	TTC,TTT	F318F	XP_016876277.1

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