Product Details

SNP ID

rs191430611

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:44811243 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGCAGATGCCCAGGCGGAGGTGC[A/G]CTTGTCTGTACCCCCGCTGGTGGAG

Phenotype

MIM: 612773

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BCAM PubMed Links

Gene Details

Gene

BCAM

Gene Name

basal cell adhesion molecule (Lutheran blood group)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013257.2	167	Missense Mutation	CAC,CGC	H34R	NP_001013275.1
NM_005581.4	167	Missense Mutation	CAC,CGC	H34R	NP_005572.2

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