Product Details

SNP ID

rs186576711

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:102807424 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGGTCCCAAAGGAGATGGTCAT[C/T]ATCCATGGAGTTGTCCAGTGACTCA

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	279	Intron			NP_001153068.1
NM_017693.3	279	Missense Mutation	CAT,TAT	H53Y	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	279	Missense Mutation	CAT,TAT	H53Y	NP_001191354.1

Gene

KDELC1

Gene Name

KDEL motif containing 1

There are no transcripts associated with this gene.

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