Product Details

SNP ID

rs2917782

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:54329351 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATAAGTGCAAACAACACTTACTCTT[C/T]CATTGGTGAACATACAAAGCCACAA

Phenotype

MIM: 605252 MIM: 607051

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

POLI PubMed Links

Gene Details

Gene

POLI

Gene Name

DNA polymerase iota

There are no transcripts associated with this gene.

Gene

STARD6

Gene Name

StAR related lipid transfer domain containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_139171.1	627	Missense Mutation	AAA,GAA	K159E	NP_631910.1
XM_011525821.1	627	Missense Mutation	AAA,GAA	K159E	XP_011524123.1
XM_017025552.1	627	Missense Mutation	AAA,GAA	K100E	XP_016881041.1
XM_017025553.1	627	Missense Mutation	AAA,GAA	K100E	XP_016881042.1
XM_017025554.1	627	Missense Mutation	AAA,GAA	K77E	XP_016881043.1

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