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SNP ID

rs77784130

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:164692286 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCAGCAAACTCTGTCGCATCTGTT[A/C]TGGGTCAGAGCTTTGGAATGTTAAA

Phenotype

MIM: 610318

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

COBLL1 PubMed Links

Gene Details

Gene

COBLL1

Gene Name

cordon-bleu WH2 repeat protein like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278458.1	3571	Nonsense Mutation	GAA,TAA	E1184*	NP_001265387.1
NM_001278460.1	3571	Nonsense Mutation	GAA,TAA	E1125*	NP_001265389.1
NM_001278461.1	3571	Nonsense Mutation	GAA,TAA	E1079*	NP_001265390.1
NM_014900.4	3571	Nonsense Mutation	GAA,TAA	E1117*	NP_055715.3

Gene

SNORA70F

Gene Name

small nucleolar RNA, H/ACA box 70F

There are no transcripts associated with this gene.

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