Product Details

SNP ID

rs150485975

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:119179839 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTTTATTCCTCTCTGATTTCAA[C/G]TTCCTTTTTATCTTTAGGGAGGATA

Phenotype

MIM: 604344

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MAN1A1 PubMed Links

Gene Details

Gene

MAN1A1

Gene Name

mannosidase alpha class 1A member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005907.3	2245	Missense Mutation	CTT,GTT	L648V	NP_005898.2
XM_005266986.4	2245	Missense Mutation	CTT,GTT	L731V	XP_005267043.1
XM_011535833.2	2245	Missense Mutation	CTT,GTT	L459V	XP_011534135.1
XM_011535834.2	2245	Intron			XP_011534136.1

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