Product Details

SNP ID

rs2273221

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:136228626 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGAAGGAAGACTTTGTGCTGACCTT[C/T]GCTGCATTTCTTCCCGTTGTCTTTC

Phenotype

MIM: 300930

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAP7D3 PubMed Links

Gene Details

Gene

MAP7D3

Gene Name

MAP7 domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001173516.1	1956	Missense Mutation	CAA,CGA	Q610R	NP_001166987.1
NM_001173517.1	1956	Missense Mutation	CAA,CGA	Q593R	NP_001166988.1
NM_024597.3	1956	Missense Mutation	CAA,CGA	Q628R	NP_078873.2
XM_005262472.1	1956	Missense Mutation	CAA,CGA	Q627R	XP_005262529.1
XM_017029843.1	1956	Missense Mutation	CAA,CGA	Q614R	XP_016885332.1

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