Product Details

SNP ID

rs142648722

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43234871 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGGCACTGATGCGGATCAGCTT[A/G]TCTGTTGACAGGTACTGGCTGTACT

Phenotype

MIM: 177070 MIM: 603805

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EPB42 PubMed Links

Gene Details

Gene

EPB42

Gene Name

erythrocyte membrane protein band 4.2

There are no transcripts associated with this gene.

Gene

TGM5

Gene Name

transglutaminase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004245.3	987	Silent Mutation	GAC,GAT	D509D	NP_004236.1
NM_201631.3	987	Silent Mutation	GAC,GAT	D591D	NP_963925.2
XM_011522230.2	987	Silent Mutation	GAC,GAT	D248D	XP_011520532.1
XM_017022729.1	987	Silent Mutation	GAC,GAT	D248D	XP_016878218.1

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