Product Details

SNP ID

rs144312700

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:44811236 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCTCTCTTGCAGATGCCCAGGCG[A/G]AGGTGCGCTTGTCTGTACCCCCGCT

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	160	Missense Mutation	AAG,GAG	K32E	NP_001013275.1
NM_005581.4	160	Missense Mutation	AAG,GAG	K32E	NP_005572.2

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