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SNP ID: rs142345845
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.13:102807535 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AATCTATAAAACTCCAAATCCATCC[C/T]GCTCTCCTTGCCTCCCTGATAGTAC
Phenotype: MIM: 611613
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: BIVM PubMed Links

Gene Details

Gene: BIVM
Gene Name: basic, immunoglobulin-like variable motif containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001159596.1	390	Intron			NP_001153068.1
NM_017693.3	390	Missense Mutation	CGC,TGC	R90C	NP_060163.2

Gene: BIVM-ERCC5
Gene Name: BIVM-ERCC5 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204425.1	390	Missense Mutation	CGC,TGC	R90C	NP_001191354.1

Gene: KDELC1
Gene Name: KDEL motif containing 1

There are no transcripts associated with this gene.

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