Product Details

SNP ID

rs199757471

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:103749127 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACGGCCTTAACGGAGGGTGTCAC[A/G]AGCACGCCACCTGTAAGATGACAGG

Phenotype

MIM: 611076 MIM: 608561

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NT5DC3 PubMed Links

Gene Details

Gene

NT5DC3

Gene Name

5'-nucleotidase domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031701.2	6636	Intron			NP_001026871.1
XM_011538476.2	6636	Intron			XP_011536778.1
XM_017019454.1	6636	Intron			XP_016874943.1

Gene

STAB2

Gene Name

stabilin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017564.9	6636	Missense Mutation	AAG,GAG	K2137E	NP_060034.9
XM_011538537.2	6636	Missense Mutation	AAG,GAG	K2137E	XP_011536839.1
XM_011538538.2	6636	Missense Mutation	AAG,GAG	K2137E	XP_011536840.1
XM_011538539.2	6636	Missense Mutation	AAG,GAG	K1580E	XP_011536841.1
XM_011538541.2	6636	Missense Mutation	AAG,GAG	K1270E	XP_011536843.1
XM_011538542.2	6636	Missense Mutation	AAG,GAG	K824E	XP_011536844.1
XM_017019585.1	6636	Missense Mutation	AAG,GAG	K2137E	XP_016875074.1

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