Product Details

SNP ID

rs11644212

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:50153889 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CGGCATGTATCGCTCCGGGGAGCGC[A/C]TGCTGGGCAGCCACGCGCTGCCCGC

Phenotype

MIM: 605540

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PAPD5 PubMed Links

Gene Details

Gene

PAPD5

Gene Name

PAP associated domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040284.2	314	Missense Mutation	ATG,CTG	M75L	NP_001035374.2
NM_001040285.2	314	Missense Mutation	ATG,CTG	M75L	NP_001035375.2
XM_005256092.4	314	Missense Mutation	ATG,CTG	M90L	XP_005256149.1
XM_005256093.4	314	Missense Mutation	ATG,CTG	M76L	XP_005256150.2
XM_011523275.2	314	Missense Mutation	ATG,CTG	M76L	XP_011521577.1
XM_011523276.2	314	Missense Mutation	ATG,CTG	M76L	XP_011521578.1
XM_011523278.2	314	Intron			XP_011521580.1
XM_017023555.1	314	Missense Mutation	ATG,CTG	M70L	XP_016879044.1

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